Johannes Darms (zbmed)
Satya S. Sahoo (case.edu)
Alpha Tom Kodamullil (Fraunhofer SCAI)
Astghik Sargsyan (Fraunhofer SCAI)
Philipp Wegner (Fraunhofer SCAI)
Shounak Baksi (Causality Biomodels)
Stephan Gebel (Fraunhofer SCAI)
Sumit Madan (Fraunhofer SCAI)
The Epilepsy Ontology (EPIO) is an assembly of structured knowledge on various aspects of epilepsy, developed according to basic formal ontology (BFO) and Open Biological and Biomedical Ontology (OBO) Foundry principles. Entities and definitions are collected from the latest International League against Epilepsy (ILAE) classification, as well as from domain-specific ontologies such as Epilepsy Ontology (EPILONT), Epilepsy Syndrome Seizure Ontology (ESSO), Epilepsy Semiology(EPISEM) and Epilepsy and Seizure Ontology (EPSO) and scientific literature.
This ontology is intended to be used for data management and for text mining purposes. The current release of the ontology is publicly available and is a community based effort to assemble various facets of the complex disease Epilepsy.
Epilepsy Ontology (EPIO)
EPIO by SEM-Group of Fraunhofer SCAI is licensed
under CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/).
EPSO by SEM-Group of Fraunhofer SCAI is
licensed under CC BY 4.0. You are free to share (copy and redistribute
the material in any medium or format) and adapt (remix, transform, and
build upon the material) for any purpose, even commercially. for any
purpose, even commercially. The licensor cannot revoke these freedoms as
long as you follow the license terms. You must give appropriate credit
(by using the original ontology IRI for the whole ontology and original
term IRIs for individual terms), provide a link to the license, and
indicate if any changes were made. You may do so in any reasonable
manner, but not in any way that suggests the licensor endorses you or
your use.
2021-05-28
Version Release: 1.0.0
Relates an entity in the ontology to the name of the variable that is used to represent it in the code that generates the BFO OWL file from the lispy specification.
Really of interest to developers only
BFO OWL specification label
Relates an entity in the ontology to the term that is used to represent it in the the CLIF specification of BFO2
Person:Alan Ruttenberg
Really of interest to developers only
BFO CLIF specification label
editor preferred label
editor preferred term
editor preferred term~editor preferred label
编辑首选术语
编辑首选标签
The concise, meaningful, and human-friendly name for a class or property preferred by the ontology developers. (US-English)
对于一类或属性的简洁的、有意义的、与人类友好的名称由本体开发商首选。 (美国英语)
PERSON:Daniel Schober
GROUP:OBI:<http://purl.obolibrary.org/obo/obi>
editor preferred label
editor preferred term
editor preferred term~editor preferred label
编辑首选术语
编辑首选术语~编辑首选标签
编辑首选标签
example
example of usage
A phrase describing how a class name should be used. May also include other kinds of examples that facilitate immediate understanding of a class semantics, such as widely known prototypical subclasses or instances of the class. Although essential for high level terms, examples for low level terms (e.g., Affymetrix HU133 array) are not
A phrase describing how a term should be used and/or a citation to a work which uses it. May also include other kinds of examples that facilitate immediate understanding, such as widely know prototypes or instances of a class, or cases where a relation is said to hold.
PERSON:Daniel Schober
GROUP:OBI:<http://purl.obolibrary.org/obo/obi>
example of usage
has curation status
有管理状态
PERSON:Alan Ruttenberg
PERSON:Bill Bug
PERSON:Melanie Courtot
OBI_0000281
has curation status
有管理状态
definition
textual definition
定义
A property representing the English language definitions of what NCI means by the concept. They may also include information about the definition's source and attribution in a form that can easily be interpreted by software.
English language definitions of what NCI means by the concept. These are limited to 1024 characters. They may also include information about the definition's source and attribution in a form that can easily be interpreted by software.
OBI的官方定义,解释类或属性的含义。应该是亚里士多德式的,形式化和规范化的。 可以通过口语定义进行扩充。
The official OBI definition, explaining the meaning of a class or property. Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions.
The official OBI definition, explaining the meaning of a class or property. Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions.
The official definition, explaining the meaning of a class or property. Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions.
The official definition, explaining the meaning of a class or property. Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions.
官方的定义,解释类或属性的含义。应该是亚里士多德式的,形式化和规范化的。 可以通过口语定义进行扩充。
2012-04-05:
Barry Smith
OBI的官方定义解释了一个类或属性的含义:'应该是亚里士多德式的,形式化和规范化的。可以用口语定义'是糟糕的。
您能解决这样的问题吗?
解释关于类或属性的表达含义的必要和充分条件的陈述。
Alan Ruttenberg
您提出的定义是一个合理的备选,除非它很常见,没有给出必要和充分的条件。大多数情况下它们是必要的,偶尔是必要的,充分的或者仅仅仅充分的。它们通常使用不是自己定义的术语,因此它们实际上不能通过这些标准进行评估。
关于拟议定义的具体内容:
我们没有“含义”,或“表达”或“属性”的定义。对于在预期意义上的“参考”,我认为我们使用术语“指示”。对于'表达',我认为我们和你的意思是符号,或标识符。对于“含义”,它不同于类和属性。对于类,我们希望文档能够让读者确定一个实体是否是该类的实例。对于属性,让我们的目标读者决定,给定一对潜在的关系,判断关系成立的断言正确与否。 “目标读者”部分表明我们也指定了我们期望的能够理解定义的人,并且概括了人类和计算机读者以包含文本和逻辑定义。
就我个人而言,我更愿意削弱对文档的定义,并指出什么是可取的。
我们还有一个悬而未决的问题,就是如何针对不同的受众定位不同的定义。临床读者阅读chebi需要来自受过化学训练的受众的不同类型的定义文档/定义,同样需要一个适合本体工作者的定义。
2012-04-05:
Barry Smith
The official OBI definition, explaining the meaning of a class or property: 'Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions' is terrible.
Can you fix to something like:
A statement of necessary and sufficient conditions explaining the meaning of an expression referring to a class or property.
Alan Ruttenberg
Your proposed definition is a reasonable candidate, except that it is very common that necessary and sufficient conditions are not given. Mostly they are necessary, occasionally they are necessary and sufficient or just sufficient. Often they use terms that are not themselves defined and so they effectively can't be evaluated by those criteria.
On the specifics of the proposed definition:
We don't have definitions of 'meaning' or 'expression' or 'property'. For 'reference' in the intended sense I think we use the term 'denotation'. For 'expression', I think we you mean symbol, or identifier. For 'meaning' it differs for class and property. For class we want documentation that let's the intended reader determine whether an entity is instance of the class, or not. For property we want documentation that let's the intended reader determine, given a pair of potential relata, whether the assertion that the relation holds is true. The 'intended reader' part suggests that we also specify who, we expect, would be able to understand the definition, and also generalizes over human and computer reader to include textual and logical definition.
Personally, I am more comfortable weakening definition to documentation, with instructions as to what is desirable.
We also have the outstanding issue of how to aim different definitions to different audiences. A clinical audience reading chebi wants a different sort of definition documentation/definition from a chemistry trained audience, and similarly there is a need for a definition that is adequate for an ontologist to work with.
PERSON:Daniel Schober
GROUP:OBI:<http://purl.obolibrary.org/obo/obi>
DEFINITION
definition
definition
textual definition
定义
文本定义
editor note
编者注
An administrative note intended for its editor. It may not be included in the publication version of the ontology, so it should contain nothing necessary for end users to understand the ontology.
管理者注释用于其编辑器。它可能不包含在本体的出版版本中,所以它应该不包含最终用户了解本体所需的信息。
PERSON:Daniel Schober
GROUP:OBI:<http://purl.obfoundry.org/obo/obi>
GROUP:OBI:<http://purl.obofoundry.org/obo/obi>
IAO:0000116
uberon
editor_note
编辑_注释
true
editor_note
编辑_注释
IAO:0000116
uberon
editor_note
1
true
editor_note
editor note
编者注
IAO:0000116
definition editor
term editor
术语编辑者
Name of editor entering the definition in the file. The definition editor is a point of contact for information regarding the term. The definition editor may be, but is not always, the author of the definition, which may have been worked upon by several people
Name of editor entering the term in the file. The term editor is a point of contact for information regarding the term. The term editor may be, but is not always, the author of the definition, which may have been worked upon by several people
输入文件中术语编辑者的名称。术语编辑者是有关术语的信息交汇点。术语编辑者可以是,但并不总是,定义的作者,这可能是由几个人完成
20110707, MC: label update to term editor and definition modified accordingly. See http://code.google.com/p/information-artifact-ontology/issues/detail?id=115.
20110707, MC: label update to term editor and definition modified accordingly. See https://github.com/information-artifact-ontology/IAO/issues/115.
20110707,MC:术语编辑和定义进行相应的修改。见http://code.google.com/p/information-artifact-ontology/issues/detail?id=115。
PERSON:Daniel Schober
GROUP:OBI:<http://purl.obolibrary.org/obo/obi>
definition editor
term editor
术语编辑者
alternative term
An alternative name for a class or property which means the same thing as the preferred name (semantically equivalent)
PERSON:Daniel Schober
GROUP:OBI:<http://purl.obolibrary.org/obo/obi>
alternative term
definition source
定义来源
formal citation, e.g. identifier in external database to indicate / attribute source(s) for the definition. Free text indicate / attribute source(s) for the definition. EXAMPLE: Author Name, URI, MeSH Term C04, PUBMED ID, Wiki uri on 31.01.2007
正式引用,例如在外部数据库中的标识符,用于表示/定义的属性源(S)。自由文本表示/为定义属性源(S)。实例:在2007年1月31日的作者姓名,URI,MeSH术语C04,PUBMEDID,维基uri
PERSON:Daniel Schober
Discussion on obo-discuss mailing-list, see http://bit.ly/hgm99w
GROUP:OBI:<http://purl.obolibrary.org/obo/obi>
论OBO-讨论邮件-列表,请参阅http://bit.ly/hgm99w
definition source
定义来源
curator note
An administrative note of use for a curator but of no use for a user
PERSON:Alan Ruttenberg
IAO:0000232
uberon
curator_notes
1
true
curator_notes
curator note
curator notes
imported from
引自
For external terms/classes, the ontology from which the term was imported
外部术语/类,术语引入的本体
PERSON:Alan Ruttenberg
PERSON:Melanie Courtot
GROUP:OBI:<http://purl.obolibrary.org/obo/obi>
imported from
imported from
引自
OBO foundry unique label
elucidation
person:Alan Ruttenberg
Person:Barry Smith
Primitive terms in a highest-level ontology such as BFO are terms which are so basic to our understanding of reality that there is no way of defining them in a non-circular fashion. For these, therefore, we can provide only elucidations, supplemented by examples and by axioms
elucidation
has associated axiom(nl)
Person:Alan Ruttenberg
Person:Alan Ruttenberg
An axiom associated with a term expressed using natural language
has associated axiom(nl)
has associated axiom(fol)
Person:Alan Ruttenberg
Person:Alan Ruttenberg
An axiom expressed in first order logic using CLIF syntax
has associated axiom(fol)
synonym
tag display synonym
An association created to allow the source CDRH to assign a parent to each concept with the intent of creating a hierarchy that includes only terms in which they are the contributing source.
A10
Conceptual Entity
Has CDRH Parent
Has_CDRH_Parent
Has_CDRH_Parent
Has_CDRH_Parent
An association created to allow the source NICHD to assign a parent to each concept with the intent of creating a hierarchy that includes only terms in which they are a contributing source.
A11
Conceptual Entity
Has_NICHD_Parent
Has_NICHD_Parent
Has_NICHD_Parent
An association that indicates that a finding or lab test is related to a gene, possibly through a variant or product.
A13
Conceptual Entity
Related_To_Genetic_Biomarker
Related_To_Genetic_Biomarker
Related_To_Genetic_Biomarker
An association that indicates that a neoplastic disease can have the characteristics defined by a Neoplasm by Special Category concept.
A14
Conceptual Entity
Neoplasm_Has_Special_Category
Neoplasm_Has_Special_Category
Neoplasm_Has_Special_Category
true
A property representing a concept unique identifier within the NCI Enterprise Vocabulary Service's NCI Thesaurus.
NHC0
Conceptual Entity
code
code
code
A property that represents a description of the sort of thing or category to which a concept belongs in the context of the UMLS semantic network.
P106
Conceptual Entity
Semantic Type
Semantic_Type
In general, applying semantic types aids in allowing users (or computer programs) to draw conclusions about concepts by virtue of the categories to which they have been assigned. We use a set of semantic types developed for the UMLS Metathesaurus. There are currently 134 semantic types in the UMLS.
Semantic_Type
Semantic_Type
A property representing an alternative Preferred Name for use in some NCI systems.
P107
Conceptual Entity
Display Name
Display_Name
Display Name
Display_Name
Display_Name
A property representing the word or phrase that NCI uses by preference to refer to the concept.
P108
Conceptual Entity
Preferred Name
Preferred_Name
Preferred Name
Preferred Term
Preferred_Name
Preferred_Name
A property representing the concept unique identifier (CUI) assigned by the National Library of Medicine (NLM). If a concept in any NCI-maintained knowledgebase exists in the NLM Unified Medical Language System (UMLS), NCI includes the NLM CUI among the information we provide about the concept.
P207
Conceptual Entity
UMLS CUI
UMLS_CUI
UMLS_CUI
UMLS_CUI
A property representing the concept unique identifier (CUI) for those concepts that appear in NCI Metathesaurus but not in the National Library of Medicine Unified Medical Language System (NLM UMLS).
P208
Conceptual Entity
NCI Metathesaurus CUI
NCI_META_CUI
NCI_META_CUI
NCI_META_CUI
A property used to indicate the standing of a concept in relation to currently accepted classifications and concepts. In NCI Thesaurus concept status subtype indicates concepts with unusual and problematic characteristics that should be evaluated by people and/or programs before those concept are used.
P310
Conceptual Entity
Concept Status
Concept_Status
Concept_Status
Concept_Status
A property used to flag terms that are part of an FDA data standard manual, including Route of Administration, Dosage Form, Package Type and Potency.
P317
Conceptual Entity
FDA Table
FDA_Table
FDA_Table
FDA_Table
A property is used to indicate when a non-EVS entity has contributed to, and has a stake in, a concept. This is used where such entities, within or outside NCI, have indicated the need to be able to track their own concepts. A single concept can have multiple instances of this property if multiple entities have such a defined stake.
P322
Conceptual Entity
Contributing Source
Contributing_Source
Contributing_Source
Contributing_Source
A property representing the English language definition of a concept from a source other than NCI.
P325
Conceptual Entity
[source] Definition
ALT_DEFINITION
ALT_DEFINITION
ALT_DEFINITION
A property representing a term that had been used in a coding system and then subsumed by the given NCIt concept.
P333
Conceptual Entity
Use For
Use_For
Use_For
Use_For
A property representing the matching ICD-O-3 code for the NCI Thesaurus concept.
P334
Conceptual Entity
ICD-O-3 Code
ICD-O-3_Code
ICD-O-3_Code
ICD-O-3_Code
A property representing the morphologic, clinical, and genetic profile of a neoplastic growth that defines it as benign, malignant, or of uncertain cancerous potential.
P363
Conceptual Entity
Neoplastic Status
Neoplastic_Status
FDA
Neoplastic_Status
Neoplastic_Status
true
A property representing a retired unique concept identifier created and stored as Concept Name by legacy EVS software. Use of these values was long discouraged, but continued as late as 2009 when creation of new values ceased and Concept Name was retired. Legacy values are intended solely to help resolve and update earlier coding.
P366
Conceptual Entity
Legacy Concept Name
Legacy Concept Name
Legacy_Concept_Name
Legacy Concept Name
Legacy_Concept_Name
A property representing a term chosen by NICHD to be used in the representation of the NICHD hierarchy.
P371
Conceptual Entity
NICHD_Hierarchy_Term
NICHD
NICHD_Hierarchy_Term
NICHD_Hierarchy_Term
A property representing whether a value set is ready for publication in the browser.
P372
Conceptual Entity
Publish_Value_Set
Publish_Value_Set
Publish_Value_Set
A property representing that a term in another terminology has been mapped to a term in NCIt and describes the relationship between the mapped terms.
P375
Conceptual Entity
Maps_To
Maps_To
Maps_To
A property representing notations made by NCI vocabulary curators. They are intended to provide supplemental, unstructured information to the user or additional insight about the concept.
P98
Conceptual Entity
DesignNote
DesignNote
DesignNote
DesignNote
has_MedDRA_id
ISA alternative term
An alternative term used by the ISA tools project (http://isa-tools.org).
Requested by Alejandra Gonzalez-Beltran
https://sourceforge.net/tracker/?func=detail&aid=3603413&group_id=177891&atid=886178
Person: Alejandra Gonzalez-Beltran
Person: Philippe Rocca-Serra
ISA tools project (http://isa-tools.org)
ISA alternative term
IEDB alternative term
An alternative term used by the IEDB.
PERSON:Randi Vita, Jason Greenbaum, Bjoern Peters
IEDB
IEDB alternative term
S dubious_for_taxon T if it is probably the case that no instances of S can be found in any instance of T.
RO:0002174
uberon
dubious_for_taxon
true
true
dubious_for_taxon
this relation lacks a strong logical interpretation, but can be used in place of never_in_taxon where it is desirable to state that the definition of the class is too strict for the taxon under consideration, but placing a never_in_taxon link would result in a chain of inconsistencies that will take time to resolve. Example: metencephalon in teleost
dubious_for_taxon
S present_in_taxon T if some instance of T has some S. This does not means that all instances of T have an S - it may only be certain life stages or sexes that have S
RO:0002175
applicable for taxon
uberon
present_in_taxon
true
true
present_in_taxon
present_in_taxon
'anterior end of organism' is-opposite-of 'posterior end of organism'
'increase in temperature' is-opposite-of 'decrease in temperature'
x is the opposite of y if there exists some distance metric M, and there exists no z such as M(x,z) <= M(x,y) or M(y,z) <= M(y,x).
RO:0002604
quality
is_opposite_of
true
true
is_opposite_of
is opposite of
is_opposite_of
An alternate textual definition for a class taken unmodified from an external source. This definition may have been used to derive a generalized definition for the new class.
UBPROP:0000001
uberon
external_definition
true
external_definition
This annotation property may be replaced with an annotation property from an external ontology such as IAO
external_definition
A textual description of an axiom loss in this ontology compared to an external ontology.
UBPROP:0000002
uberon
axiom_lost_from_external_ontology
true
axiom_lost_from_external_ontology
This annotation property may be replaced with an annotation property from an external ontology such as IAO
axiom_lost_from_external_ontology
Notes on the homology status of this class.
UBPROP:0000003
uberon
homology_notes
true
homology_notes
This annotation property may be replaced with an annotation property from an external ontology such as IAO
homology_notes
Used to connect a class to an adjectival form of its label. For example, a class with label 'intestine' may have a relational adjective 'intestinal'.
UBPROP:0000007
uberon
has_relational_adjective
true
has_relational_adjective
has_relational_adjective
Notes on the how instances of this class vary across species.
UBPROP:0000008
uberon
taxon_notes
true
taxon_notes
taxon_notes
Notes on the ontogenic development of instances of this class.
This annotation property may be replaced with an annotation property from an external ontology such as IAO
UBPROP:0000011
uberon
development_notes
true
development_notes
development_notes
Notes on how similar or equivalent classes are represented in other ontologies.
This annotation property may be replaced with an annotation property from an external ontology such as IAO
UBPROP:0000012
uberon
external_ontology_notes
true
external_ontology_notes
external_ontology_notes
FMA has terms like 'set of X'. In general we do not include set-of terms in uberon, but provide a mapping between the singular form and the FMA set term
UBPROP:0000202
uberon
fma_set_term
true
fma_set_term
fma_set_term
excluded_subClassOf
true
excluded subClassOf
A metadata relation between a class and its taxonomic rank (eg species, family)
ncbi_taxonomy
has_rank
uberon
dc-contributor
true
dc-contributor
contributor
uberon
dc-creator
true
dc-creator
creator
created_by
creation_date
has_alternative_id
has_broad_synonym
A property representing a reference to an identical or very similar object in another database.
Reference database or publication source.
Conceptual Entity
xRef
database_cross_reference
xRef
数据库_交叉_引用
A property representing a fully qualified synonym, contains the string, term type, source, and an optional source code if appropriate. Each subfield is deliniated to facilitate interpretation by software.
An alternative label for a given entity such as a commonly used abbreviation or synonym.
FULL_SYN
Synonym with Source Data
alternative_term
has exact synonym
has_exact_synonym
has_narrow_synonym
Name space of the ontology.
disease_ontology
has_obo_namespace
has_obo_namespace
有_obo_命名空间
has_related_synonym
oboInOwl:hasRelatedSynonym
An identifier is an information content entity that is the outcome of a dubbing process and is used to refer to one instance of entity shared by a group of people to refer to that individual entity.
id
An association that connects the concept defining a particular terminology subset with concepts that belong to this subset.
In subset.
Concept_In_Subset
in subset
in_subset
shorthand
Comment.
comment
Is defined by.
rdfs:isDefinedBy
label
A human readable name for this class.
label
label
标签
http://www.w3.org/2000/01/rdf-schema#seeAlso
uberon
seeAlso
true
true
seeAlso
see also
seeAlso
uberon
depicted_by
true
depicted_by
depicted by
Concept is taken from other resources than PubMed
concept is derived from Epilepsy Ontology (EPILONT) https://bioportal.bioontology.org/ontologies/EPILONT
concept is derived from Epilepsy Syndrome Seizure Ontology (ESSO) https://bioportal.bioontology.org/ontologies/ESSO
concept isderived from Epilepsy and Seizure Ontology (EpSO) https://bioportal.bioontology.org/ontologies/EPSO
concept is derived from International League Against Epilpesy (ILAE) seizure classification (https://www.epilepsydiagnosis.org/index.html
Concept is taken from NCBI book
Concepts is taken from PubMed article
The subject classifies the object.
isClassificationFor
The subject describes the estimated relation between brain regions (object).
isBrainConnectivityFor
The subject is a risk factor the the object.
isRiskFactorFor
The subject describes a diagnosis for the object.
isDiagnosisFor
The subject describes as sign/symptom or multiple signs/symptoms for the object.
isSignAndSymptomFor
The subject describes a syndrome for the object.
isSyndromeFor
The subject describes the object's limitation.
isImitatorFor
The subject is the cause (etiology) for the object.
isEtiologyFor
The subject assignes the object a seizure class.
isSeizureClassificationFor
The subject describes a treatment for the object.
isTreatmentFor
The subject describes an anatomical feature of the references object.
isAnatomicalEntityFor
The subject describes any process that is carried out at the cellular level, but not necessarily restricted to a single cell for the object.
isCellularProcessFor
entity
Entity
Julius Caesar
Verdi’s Requiem
the Second World War
your body mass index
BFO 2 Reference: In all areas of empirical inquiry we encounter general terms of two sorts. First are general terms which refer to universals or types:animaltuberculosissurgical procedurediseaseSecond, are general terms used to refer to groups of entities which instantiate a given universal but do not correspond to the extension of any subuniversal of that universal because there is nothing intrinsic to the entities in question by virtue of which they – and only they – are counted as belonging to the given group. Examples are: animal purchased by the Emperortuberculosis diagnosed on a Wednesdaysurgical procedure performed on a patient from Stockholmperson identified as candidate for clinical trial #2056-555person who is signatory of Form 656-PPVpainting by Leonardo da VinciSuch terms, which represent what are called ‘specializations’ in [81
Entity doesn't have a closure axiom because the subclasses don't necessarily exhaust all possibilites. For example Werner Ceusters 'portions of reality' include 4 sorts, entities (as BFO construes them), universals, configurations, and relations. It is an open question as to whether entities as construed in BFO will at some point also include these other portions of reality. See, for example, 'How to track absolutely everything' at http://www.referent-tracking.com/_RTU/papers/CeustersICbookRevised.pdf
An entity is anything that exists or has existed or will exist. (axiom label in BFO2 Reference: [001-001])
entity
Entity doesn't have a closure axiom because the subclasses don't necessarily exhaust all possibilites. For example Werner Ceusters 'portions of reality' include 4 sorts, entities (as BFO construes them), universals, configurations, and relations. It is an open question as to whether entities as construed in BFO will at some point also include these other portions of reality. See, for example, 'How to track absolutely everything' at http://www.referent-tracking.com/_RTU/papers/CeustersICbookRevised.pdf
per discussion with Barry Smith
An entity is anything that exists or has existed or will exist. (axiom label in BFO2 Reference: [001-001])
continuant
Continuant
An entity that exists in full at any time in which it exists at all, persists through time while maintaining its identity and has no temporal parts.
BFO 2 Reference: Continuant entities are entities which can be sliced to yield parts only along the spatial dimension, yielding for example the parts of your table which we call its legs, its top, its nails. ‘My desk stretches from the window to the door. It has spatial parts, and can be sliced (in space) in two. With respect to time, however, a thing is a continuant.’ [60, p. 240
Continuant doesn't have a closure axiom because the subclasses don't necessarily exhaust all possibilites. For example, in an expansion involving bringing in some of Ceuster's other portions of reality, questions are raised as to whether universals are continuants
A continuant is an entity that persists, endures, or continues to exist through time while maintaining its identity. (axiom label in BFO2 Reference: [008-002])
if b is a continuant and if, for some t, c has_continuant_part b at t, then c is a continuant. (axiom label in BFO2 Reference: [126-001])
if b is a continuant and if, for some t, cis continuant_part of b at t, then c is a continuant. (axiom label in BFO2 Reference: [009-002])
if b is a material entity, then there is some temporal interval (referred to below as a one-dimensional temporal region) during which b exists. (axiom label in BFO2 Reference: [011-002])
(forall (x y) (if (and (Continuant x) (exists (t) (continuantPartOfAt y x t))) (Continuant y))) // axiom label in BFO2 CLIF: [009-002]
(forall (x y) (if (and (Continuant x) (exists (t) (hasContinuantPartOfAt y x t))) (Continuant y))) // axiom label in BFO2 CLIF: [126-001]
(forall (x) (if (Continuant x) (Entity x))) // axiom label in BFO2 CLIF: [008-002]
(forall (x) (if (Material Entity x) (exists (t) (and (TemporalRegion t) (existsAt x t))))) // axiom label in BFO2 CLIF: [011-002]
continuant
(forall (x) (if (Continuant x) (Entity x))) // axiom label in BFO2 CLIF: [008-002]
(forall (x) (if (Material Entity x) (exists (t) (and (TemporalRegion t) (existsAt x t))))) // axiom label in BFO2 CLIF: [011-002]
Continuant doesn't have a closure axiom because the subclasses don't necessarily exhaust all possibilites. For example, in an expansion involving bringing in some of Ceuster's other portions of reality, questions are raised as to whether universals are continuants
A continuant is an entity that persists, endures, or continues to exist through time while maintaining its identity. (axiom label in BFO2 Reference: [008-002])
if b is a continuant and if, for some t, c has_continuant_part b at t, then c is a continuant. (axiom label in BFO2 Reference: [126-001])
if b is a continuant and if, for some t, cis continuant_part of b at t, then c is a continuant. (axiom label in BFO2 Reference: [009-002])
if b is a material entity, then there is some temporal interval (referred to below as a one-dimensional temporal region) during which b exists. (axiom label in BFO2 Reference: [011-002])
(forall (x y) (if (and (Continuant x) (exists (t) (continuantPartOfAt y x t))) (Continuant y))) // axiom label in BFO2 CLIF: [009-002]
(forall (x y) (if (and (Continuant x) (exists (t) (hasContinuantPartOfAt y x t))) (Continuant y))) // axiom label in BFO2 CLIF: [126-001]
occurrent
Occurrent
An entity that has temporal parts and that happens, unfolds or develops through time.
BFO 2 Reference: every occurrent that is not a temporal or spatiotemporal region is s-dependent on some independent continuant that is not a spatial region
BFO 2 Reference: s-dependence obtains between every process and its participants in the sense that, as a matter of necessity, this process could not have existed unless these or those participants existed also. A process may have a succession of participants at different phases of its unfolding. Thus there may be different players on the field at different times during the course of a football game; but the process which is the entire game s-depends_on all of these players nonetheless. Some temporal parts of this process will s-depend_on on only some of the players.
Occurrent doesn't have a closure axiom because the subclasses don't necessarily exhaust all possibilites. An example would be the sum of a process and the process boundary of another process.
Simons uses different terminology for relations of occurrents to regions: Denote the spatio-temporal location of a given occurrent e by 'spn[e]' and call this region its span. We may say an occurrent is at its span, in any larger region, and covers any smaller region. Now suppose we have fixed a frame of reference so that we can speak not merely of spatio-temporal but also of spatial regions (places) and temporal regions (times). The spread of an occurrent, (relative to a frame of reference) is the space it exactly occupies, and its spell is likewise the time it exactly occupies. We write 'spr[e]' and `spl[e]' respectively for the spread and spell of e, omitting mention of the frame.
An occurrent is an entity that unfolds itself in time or it is the instantaneous boundary of such an entity (for example a beginning or an ending) or it is a temporal or spatiotemporal region which such an entity occupies_temporal_region or occupies_spatiotemporal_region. (axiom label in BFO2 Reference: [077-002])
Every occurrent occupies_spatiotemporal_region some spatiotemporal region. (axiom label in BFO2 Reference: [108-001])
b is an occurrent entity iff b is an entity that has temporal parts. (axiom label in BFO2 Reference: [079-001])
(forall (x) (iff (Occurrent x) (and (Entity x) (exists (y) (temporalPartOf y x))))) // axiom label in BFO2 CLIF: [079-001]
occurrent
Occurrent doesn't have a closure axiom because the subclasses don't necessarily exhaust all possibilites. An example would be the sum of a process and the process boundary of another process.
per discussion with Barry Smith
Simons uses different terminology for relations of occurrents to regions: Denote the spatio-temporal location of a given occurrent e by 'spn[e]' and call this region its span. We may say an occurrent is at its span, in any larger region, and covers any smaller region. Now suppose we have fixed a frame of reference so that we can speak not merely of spatio-temporal but also of spatial regions (places) and temporal regions (times). The spread of an occurrent, (relative to a frame of reference) is the space it exactly occupies, and its spell is likewise the time it exactly occupies. We write 'spr[e]' and `spl[e]' respectively for the spread and spell of e, omitting mention of the frame.
An occurrent is an entity that unfolds itself in time or it is the instantaneous boundary of such an entity (for example a beginning or an ending) or it is a temporal or spatiotemporal region which such an entity occupies_temporal_region or occupies_spatiotemporal_region. (axiom label in BFO2 Reference: [077-002])
Every occurrent occupies_spatiotemporal_region some spatiotemporal region. (axiom label in BFO2 Reference: [108-001])
b is an occurrent entity iff b is an entity that has temporal parts. (axiom label in BFO2 Reference: [079-001])
(forall (x) (iff (Occurrent x) (and (Entity x) (exists (y) (temporalPartOf y x))))) // axiom label in BFO2 CLIF: [079-001]
ic
IndependentContinuant
a chair
a heart
a leg
a molecule
a spatial region
an atom
an orchestra.
an organism
the bottom right portion of a human torso
the interior of your mouth
b is an independent continuant = Def. b is a continuant which is such that there is no c and no t such that b s-depends_on c at t. (axiom label in BFO2 Reference: [017-002])
For any independent continuant b and any time t there is some spatial region r such that b is located_in r at t. (axiom label in BFO2 Reference: [134-001])
For every independent continuant b and time t during the region of time spanned by its life, there are entities which s-depends_on b during t. (axiom label in BFO2 Reference: [018-002])
(forall (x t) (if (IndependentContinuant x) (exists (r) (and (SpatialRegion r) (locatedInAt x r t))))) // axiom label in BFO2 CLIF: [134-001]
(forall (x t) (if (and (IndependentContinuant x) (existsAt x t)) (exists (y) (and (Entity y) (specificallyDependsOnAt y x t))))) // axiom label in BFO2 CLIF: [018-002]
(iff (IndependentContinuant a) (and (Continuant a) (not (exists (b t) (specificallyDependsOnAt a b t))))) // axiom label in BFO2 CLIF: [017-002]
independent continuant
b is an independent continuant = Def. b is a continuant which is such that there is no c and no t such that b s-depends_on c at t. (axiom label in BFO2 Reference: [017-002])
For any independent continuant b and any time t there is some spatial region r such that b is located_in r at t. (axiom label in BFO2 Reference: [134-001])
For every independent continuant b and time t during the region of time spanned by its life, there are entities which s-depends_on b during t. (axiom label in BFO2 Reference: [018-002])
(forall (x t) (if (IndependentContinuant x) (exists (r) (and (SpatialRegion r) (locatedInAt x r t))))) // axiom label in BFO2 CLIF: [134-001]
(forall (x t) (if (and (IndependentContinuant x) (existsAt x t)) (exists (y) (and (Entity y) (specificallyDependsOnAt y x t))))) // axiom label in BFO2 CLIF: [018-002]
(iff (IndependentContinuant a) (and (Continuant a) (not (exists (b t) (specificallyDependsOnAt a b t))))) // axiom label in BFO2 CLIF: [017-002]
s-region
SpatialRegion
BFO 2 Reference: Spatial regions do not participate in processes.
Spatial region doesn't have a closure axiom because the subclasses don't exhaust all possibilites. An example would be the union of a spatial point and a spatial line that doesn't overlap the point, or two spatial lines that intersect at a single point. In both cases the resultant spatial region is neither 0-dimensional, 1-dimensional, 2-dimensional, or 3-dimensional.
A spatial region is a continuant entity that is a continuant_part_of spaceR as defined relative to some frame R. (axiom label in BFO2 Reference: [035-001])
All continuant parts of spatial regions are spatial regions. (axiom label in BFO2 Reference: [036-001])
(forall (x y t) (if (and (SpatialRegion x) (continuantPartOfAt y x t)) (SpatialRegion y))) // axiom label in BFO2 CLIF: [036-001]
(forall (x) (if (SpatialRegion x) (Continuant x))) // axiom label in BFO2 CLIF: [035-001]
spatial region
Spatial region doesn't have a closure axiom because the subclasses don't exhaust all possibilites. An example would be the union of a spatial point and a spatial line that doesn't overlap the point, or two spatial lines that intersect at a single point. In both cases the resultant spatial region is neither 0-dimensional, 1-dimensional, 2-dimensional, or 3-dimensional.
per discussion with Barry Smith
A spatial region is a continuant entity that is a continuant_part_of spaceR as defined relative to some frame R. (axiom label in BFO2 Reference: [035-001])
All continuant parts of spatial regions are spatial regions. (axiom label in BFO2 Reference: [036-001])
(forall (x y t) (if (and (SpatialRegion x) (continuantPartOfAt y x t)) (SpatialRegion y))) // axiom label in BFO2 CLIF: [036-001]
(forall (x) (if (SpatialRegion x) (Continuant x))) // axiom label in BFO2 CLIF: [035-001]
t-region
TemporalRegion
Temporal region doesn't have a closure axiom because the subclasses don't exhaust all possibilites. An example would be the mereological sum of a temporal instant and a temporal interval that doesn't overlap the instant. In this case the resultant temporal region is neither 0-dimensional nor 1-dimensional
A temporal region is an occurrent entity that is part of time as defined relative to some reference frame. (axiom label in BFO2 Reference: [100-001])
All parts of temporal regions are temporal regions. (axiom label in BFO2 Reference: [101-001])
Every temporal region t is such that t occupies_temporal_region t. (axiom label in BFO2 Reference: [119-002])
(forall (x y) (if (and (TemporalRegion x) (occurrentPartOf y x)) (TemporalRegion y))) // axiom label in BFO2 CLIF: [101-001]
(forall (x) (if (TemporalRegion x) (Occurrent x))) // axiom label in BFO2 CLIF: [100-001]
temporal region
Temporal region doesn't have a closure axiom because the subclasses don't exhaust all possibilites. An example would be the mereological sum of a temporal instant and a temporal interval that doesn't overlap the instant. In this case the resultant temporal region is neither 0-dimensional nor 1-dimensional
per discussion with Barry Smith
A temporal region is an occurrent entity that is part of time as defined relative to some reference frame. (axiom label in BFO2 Reference: [100-001])
All parts of temporal regions are temporal regions. (axiom label in BFO2 Reference: [101-001])
Every temporal region t is such that t occupies_temporal_region t. (axiom label in BFO2 Reference: [119-002])
(forall (x y) (if (and (TemporalRegion x) (occurrentPartOf y x)) (TemporalRegion y))) // axiom label in BFO2 CLIF: [101-001]
(forall (x) (if (TemporalRegion x) (Occurrent x))) // axiom label in BFO2 CLIF: [100-001]
2d-s-region
TwoDimensionalSpatialRegion
an infinitely thin plane in space.
the surface of a sphere-shaped part of space
A two-dimensional spatial region is a spatial region that is of two dimensions. (axiom label in BFO2 Reference: [039-001])
(forall (x) (if (TwoDimensionalSpatialRegion x) (SpatialRegion x))) // axiom label in BFO2 CLIF: [039-001]
two-dimensional spatial region
A two-dimensional spatial region is a spatial region that is of two dimensions. (axiom label in BFO2 Reference: [039-001])
(forall (x) (if (TwoDimensionalSpatialRegion x) (SpatialRegion x))) // axiom label in BFO2 CLIF: [039-001]
st-region
SpatiotemporalRegion
the spatiotemporal region occupied by a human life
the spatiotemporal region occupied by a process of cellular meiosis.
the spatiotemporal region occupied by the development of a cancer tumor
A spatiotemporal region is an occurrent entity that is part of spacetime. (axiom label in BFO2 Reference: [095-001])
All parts of spatiotemporal regions are spatiotemporal regions. (axiom label in BFO2 Reference: [096-001])
Each spatiotemporal region at any time t projects_onto some spatial region at t. (axiom label in BFO2 Reference: [099-001])
Each spatiotemporal region projects_onto some temporal region. (axiom label in BFO2 Reference: [098-001])
Every spatiotemporal region occupies_spatiotemporal_region itself.
Every spatiotemporal region s is such that s occupies_spatiotemporal_region s. (axiom label in BFO2 Reference: [107-002])
(forall (r) (if (SpatioTemporalRegion r) (occupiesSpatioTemporalRegion r r))) // axiom label in BFO2 CLIF: [107-002]
(forall (x t) (if (SpatioTemporalRegion x) (exists (y) (and (SpatialRegion y) (spatiallyProjectsOntoAt x y t))))) // axiom label in BFO2 CLIF: [099-001]
(forall (x y) (if (and (SpatioTemporalRegion x) (occurrentPartOf y x)) (SpatioTemporalRegion y))) // axiom label in BFO2 CLIF: [096-001]
(forall (x) (if (SpatioTemporalRegion x) (Occurrent x))) // axiom label in BFO2 CLIF: [095-001]
(forall (x) (if (SpatioTemporalRegion x) (exists (y) (and (TemporalRegion y) (temporallyProjectsOnto x y))))) // axiom label in BFO2 CLIF: [098-001]
spatiotemporal region
A spatiotemporal region is an occurrent entity that is part of spacetime. (axiom label in BFO2 Reference: [095-001])
All parts of spatiotemporal regions are spatiotemporal regions. (axiom label in BFO2 Reference: [096-001])
Each spatiotemporal region at any time t projects_onto some spatial region at t. (axiom label in BFO2 Reference: [099-001])
Each spatiotemporal region projects_onto some temporal region. (axiom label in BFO2 Reference: [098-001])
Every spatiotemporal region s is such that s occupies_spatiotemporal_region s. (axiom label in BFO2 Reference: [107-002])
(forall (r) (if (SpatioTemporalRegion r) (occupiesSpatioTemporalRegion r r))) // axiom label in BFO2 CLIF: [107-002]
(forall (x t) (if (SpatioTemporalRegion x) (exists (y) (and (SpatialRegion y) (spatiallyProjectsOntoAt x y t))))) // axiom label in BFO2 CLIF: [099-001]
(forall (x y) (if (and (SpatioTemporalRegion x) (occurrentPartOf y x)) (SpatioTemporalRegion y))) // axiom label in BFO2 CLIF: [096-001]
(forall (x) (if (SpatioTemporalRegion x) (Occurrent x))) // axiom label in BFO2 CLIF: [095-001]
(forall (x) (if (SpatioTemporalRegion x) (exists (y) (and (TemporalRegion y) (temporallyProjectsOnto x y))))) // axiom label in BFO2 CLIF: [098-001]
process
Process
a process of cell-division, \ a beating of the heart
a process of meiosis
a process of sleeping
the course of a disease
the flight of a bird
the life of an organism
your process of aging.
An occurrent that has temporal proper parts and for some time t, p s-depends_on some material entity at t.
p is a process = Def. p is an occurrent that has temporal proper parts and for some time t, p s-depends_on some material entity at t. (axiom label in BFO2 Reference: [083-003])
BFO 2 Reference: The realm of occurrents is less pervasively marked by the presence of natural units than is the case in the realm of independent continuants. Thus there is here no counterpart of ‘object’. In BFO 1.0 ‘process’ served as such a counterpart. In BFO 2.0 ‘process’ is, rather, the occurrent counterpart of ‘material entity’. Those natural – as contrasted with engineered, which here means: deliberately executed – units which do exist in the realm of occurrents are typically either parasitic on the existence of natural units on the continuant side, or they are fiat in nature. Thus we can count lives; we can count football games; we can count chemical reactions performed in experiments or in chemical manufacturing. We cannot count the processes taking place, for instance, in an episode of insect mating behavior.Even where natural units are identifiable, for example cycles in a cyclical process such as the beating of a heart or an organism’s sleep/wake cycle, the processes in question form a sequence with no discontinuities (temporal gaps) of the sort that we find for instance where billiard balls or zebrafish or planets are separated by clear spatial gaps. Lives of organisms are process units, but they too unfold in a continuous series from other, prior processes such as fertilization, and they unfold in turn in continuous series of post-life processes such as post-mortem decay. Clear examples of boundaries of processes are almost always of the fiat sort (midnight, a time of death as declared in an operating theater or on a death certificate, the initiation of a state of war)
(iff (Process a) (and (Occurrent a) (exists (b) (properTemporalPartOf b a)) (exists (c t) (and (MaterialEntity c) (specificallyDependsOnAt a c t))))) // axiom label in BFO2 CLIF: [083-003]
process
p is a process = Def. p is an occurrent that has temporal proper parts and for some time t, p s-depends_on some material entity at t. (axiom label in BFO2 Reference: [083-003])
(iff (Process a) (and (Occurrent a) (exists (b) (properTemporalPartOf b a)) (exists (c t) (and (MaterialEntity c) (specificallyDependsOnAt a c t))))) // axiom label in BFO2 CLIF: [083-003]
disposition
Disposition
an atom of element X has the disposition to decay to an atom of element Y
certain people have a predisposition to colon cancer
children are innately disposed to categorize objects in certain ways.
the cell wall is disposed to filter chemicals in endocytosis and exocytosis
BFO 2 Reference: Dispositions exist along a strength continuum. Weaker forms of disposition are realized in only a fraction of triggering cases. These forms occur in a significant number of cases of a similar type.
b is a disposition means: b is a realizable entity & b’s bearer is some material entity & b is such that if it ceases to exist, then its bearer is physically changed, & b’s realization occurs when and because this bearer is in some special physical circumstances, & this realization occurs in virtue of the bearer’s physical make-up. (axiom label in BFO2 Reference: [062-002])
If b is a realizable entity then for all t at which b exists, b s-depends_on some material entity at t. (axiom label in BFO2 Reference: [063-002])
(forall (x t) (if (and (RealizableEntity x) (existsAt x t)) (exists (y) (and (MaterialEntity y) (specificallyDepends x y t))))) // axiom label in BFO2 CLIF: [063-002]
(forall (x) (if (Disposition x) (and (RealizableEntity x) (exists (y) (and (MaterialEntity y) (bearerOfAt x y t)))))) // axiom label in BFO2 CLIF: [062-002]
disposition
b is a disposition means: b is a realizable entity & b’s bearer is some material entity & b is such that if it ceases to exist, then its bearer is physically changed, & b’s realization occurs when and because this bearer is in some special physical circumstances, & this realization occurs in virtue of the bearer’s physical make-up. (axiom label in BFO2 Reference: [062-002])
If b is a realizable entity then for all t at which b exists, b s-depends_on some material entity at t. (axiom label in BFO2 Reference: [063-002])
(forall (x t) (if (and (RealizableEntity x) (existsAt x t)) (exists (y) (and (MaterialEntity y) (specificallyDepends x y t))))) // axiom label in BFO2 CLIF: [063-002]
(forall (x) (if (Disposition x) (and (RealizableEntity x) (exists (y) (and (MaterialEntity y) (bearerOfAt x y t)))))) // axiom label in BFO2 CLIF: [062-002]
realizable
RealizableEntity
the disposition of this piece of metal to conduct electricity.
the disposition of your blood to coagulate
the function of your reproductive organs
the role of being a doctor
the role of this boundary to delineate where Utah and Colorado meet
To say that b is a realizable entity is to say that b is a specifically dependent continuant that inheres in some independent continuant which is not a spatial region and is of a type instances of which are realized in processes of a correlated type. (axiom label in BFO2 Reference: [058-002])
All realizable dependent continuants have independent continuants that are not spatial regions as their bearers. (axiom label in BFO2 Reference: [060-002])
(forall (x t) (if (RealizableEntity x) (exists (y) (and (IndependentContinuant y) (not (SpatialRegion y)) (bearerOfAt y x t))))) // axiom label in BFO2 CLIF: [060-002]
(forall (x) (if (RealizableEntity x) (and (SpecificallyDependentContinuant x) (exists (y) (and (IndependentContinuant y) (not (SpatialRegion y)) (inheresIn x y)))))) // axiom label in BFO2 CLIF: [058-002]
realizable entity
To say that b is a realizable entity is to say that b is a specifically dependent continuant that inheres in some independent continuant which is not a spatial region and is of a type instances of which are realized in processes of a correlated type. (axiom label in BFO2 Reference: [058-002])
All realizable dependent continuants have independent continuants that are not spatial regions as their bearers. (axiom label in BFO2 Reference: [060-002])
(forall (x t) (if (RealizableEntity x) (exists (y) (and (IndependentContinuant y) (not (SpatialRegion y)) (bearerOfAt y x t))))) // axiom label in BFO2 CLIF: [060-002]
(forall (x) (if (RealizableEntity x) (and (SpecificallyDependentContinuant x) (exists (y) (and (IndependentContinuant y) (not (SpatialRegion y)) (inheresIn x y)))))) // axiom label in BFO2 CLIF: [058-002]
0d-s-region
ZeroDimensionalSpatialRegion
A zero-dimensional spatial region is a point in space. (axiom label in BFO2 Reference: [037-001])
(forall (x) (if (ZeroDimensionalSpatialRegion x) (SpatialRegion x))) // axiom label in BFO2 CLIF: [037-001]
zero-dimensional spatial region
A zero-dimensional spatial region is a point in space. (axiom label in BFO2 Reference: [037-001])
(forall (x) (if (ZeroDimensionalSpatialRegion x) (SpatialRegion x))) // axiom label in BFO2 CLIF: [037-001]
quality
Quality
the ambient temperature of this portion of air
the color of a tomato
the length of the circumference of your waist
the mass of this piece of gold.
the shape of your nose
the shape of your nostril
a quality is a specifically dependent continuant that, in contrast to roles and dispositions, does not require any further process in order to be realized. (axiom label in BFO2 Reference: [055-001])
If an entity is a quality at any time that it exists, then it is a quality at every time that it exists. (axiom label in BFO2 Reference: [105-001])
(forall (x) (if (Quality x) (SpecificallyDependentContinuant x))) // axiom label in BFO2 CLIF: [055-001]
(forall (x) (if (exists (t) (and (existsAt x t) (Quality x))) (forall (t_1) (if (existsAt x t_1) (Quality x))))) // axiom label in BFO2 CLIF: [105-001]
quality
a quality is a specifically dependent continuant that, in contrast to roles and dispositions, does not require any further process in order to be realized. (axiom label in BFO2 Reference: [055-001])
If an entity is a quality at any time that it exists, then it is a quality at every time that it exists. (axiom label in BFO2 Reference: [105-001])
(forall (x) (if (Quality x) (SpecificallyDependentContinuant x))) // axiom label in BFO2 CLIF: [055-001]
(forall (x) (if (exists (t) (and (existsAt x t) (Quality x))) (forall (t_1) (if (existsAt x t_1) (Quality x))))) // axiom label in BFO2 CLIF: [105-001]
sdc
SpecificallyDependentContinuant
Reciprocal specifically dependent continuants: the function of this key to open this lock and the mutually dependent disposition of this lock: to be opened by this key
of one-sided specifically dependent continuants: the mass of this tomato
of relational dependent continuants (multiple bearers): John’s love for Mary, the ownership relation between John and this statue, the relation of authority between John and his subordinates.
the disposition of this fish to decay
the function of this heart: to pump blood
the mutual dependence of proton donors and acceptors in chemical reactions [79
the mutual dependence of the role predator and the role prey as played by two organisms in a given interaction
the pink color of a medium rare piece of grilled filet mignon at its center
the role of being a doctor
the shape of this hole.
the smell of this portion of mozzarella
A continuant that inheres in or is borne by other entities. Every instance of A requires some specific instance of B which must always be the same.
b is a specifically dependent continuant = Def. b is a continuant & there is some independent continuant c which is not a spatial region and which is such that b s-depends_on c at every time t during the course of b’s existence. (axiom label in BFO2 Reference: [050-003])
Specifically dependent continuant doesn't have a closure axiom because the subclasses don't necessarily exhaust all possibilites. We're not sure what else will develop here, but for example there are questions such as what are promises, obligation, etc.
(iff (SpecificallyDependentContinuant a) (and (Continuant a) (forall (t) (if (existsAt a t) (exists (b) (and (IndependentContinuant b) (not (SpatialRegion b)) (specificallyDependsOnAt a b t))))))) // axiom label in BFO2 CLIF: [050-003]
specifically dependent continuant
b is a specifically dependent continuant = Def. b is a continuant & there is some independent continuant c which is not a spatial region and which is such that b s-depends_on c at every time t during the course of b’s existence. (axiom label in BFO2 Reference: [050-003])
Specifically dependent continuant doesn't have a closure axiom because the subclasses don't necessarily exhaust all possibilites. We're not sure what else will develop here, but for example there are questions such as what are promises, obligation, etc.
per discussion with Barry Smith
(iff (SpecificallyDependentContinuant a) (and (Continuant a) (forall (t) (if (existsAt a t) (exists (b) (and (IndependentContinuant b) (not (SpatialRegion b)) (specificallyDependsOnAt a b t))))))) // axiom label in BFO2 CLIF: [050-003]
role
Role
John’s role of husband to Mary is dependent on Mary’s role of wife to John, and both are dependent on the object aggregate comprising John and Mary as member parts joined together through the relational quality of being married.
the priest role
the role of a boundary to demarcate two neighboring administrative territories
the role of a building in serving as a military target
the role of a stone in marking a property boundary
the role of subject in a clinical trial
the student role
BFO 2 Reference: One major family of examples of non-rigid universals involves roles, and ontologies developed for corresponding administrative purposes may consist entirely of representatives of entities of this sort. Thus ‘professor’, defined as follows,b instance_of professor at t =Def. there is some c, c instance_of professor role & c inheres_in b at t.denotes a non-rigid universal and so also do ‘nurse’, ‘student’, ‘colonel’, ‘taxpayer’, and so forth. (These terms are all, in the jargon of philosophy, phase sortals.) By using role terms in definitions, we can create a BFO conformant treatment of such entities drawing on the fact that, while an instance of professor may be simultaneously an instance of trade union member, no instance of the type professor role is also (at any time) an instance of the type trade union member role (any more than any instance of the type color is at any time an instance of the type length).If an ontology of employment positions should be defined in terms of roles following the above pattern, this enables the ontology to do justice to the fact that individuals instantiate the corresponding universals – professor, sergeant, nurse – only during certain phases in their lives.
b is a role means: b is a realizable entity & b exists because there is some single bearer that is in some special physical, social, or institutional set of circumstances in which this bearer does not have to be& b is not such that, if it ceases to exist, then the physical make-up of the bearer is thereby changed. (axiom label in BFO2 Reference: [061-001])
(forall (x) (if (Role x) (RealizableEntity x))) // axiom label in BFO2 CLIF: [061-001]
role
b is a role means: b is a realizable entity & b exists because there is some single bearer that is in some special physical, social, or institutional set of circumstances in which this bearer does not have to be& b is not such that, if it ceases to exist, then the physical make-up of the bearer is thereby changed. (axiom label in BFO2 Reference: [061-001])
(forall (x) (if (Role x) (RealizableEntity x))) // axiom label in BFO2 CLIF: [061-001]
fiat-object-part
FiatObjectPart
or with divisions drawn by cognitive subjects for practical reasons, such as the division of a cake (before slicing) into (what will become) slices (and thus member parts of an object aggregate). However, this does not mean that fiat object parts are dependent for their existence on divisions or delineations effected by cognitive subjects. If, for example, it is correct to conceive geological layers of the Earth as fiat object parts of the Earth, then even though these layers were first delineated in recent times, still existed long before such delineation and what holds of these layers (for example that the oldest layers are also the lowest layers) did not begin to hold because of our acts of delineation.Treatment of material entity in BFOExamples viewed by some as problematic cases for the trichotomy of fiat object part, object, and object aggregate include: a mussel on (and attached to) a rock, a slime mold, a pizza, a cloud, a galaxy, a railway train with engine and multiple carriages, a clonal stand of quaking aspen, a bacterial community (biofilm), a broken femur. Note that, as Aristotle already clearly recognized, such problematic cases – which lie at or near the penumbra of instances defined by the categories in question – need not invalidate these categories. The existence of grey objects does not prove that there are not objects which are black and objects which are white; the existence of mules does not prove that there are not objects which are donkeys and objects which are horses. It does, however, show that the examples in question need to be addressed carefully in order to show how they can be fitted into the proposed scheme, for example by recognizing additional subdivisions [29
the FMA:regional parts of an intact human body.
the Western hemisphere of the Earth
the division of the brain into regions
the division of the planet into hemispheres
the dorsal and ventral surfaces of the body
the upper and lower lobes of the left lung
BFO 2 Reference: Most examples of fiat object parts are associated with theoretically drawn divisions
b is a fiat object part = Def. b is a material entity which is such that for all times t, if b exists at t then there is some object c such that b proper continuant_part of c at t and c is demarcated from the remainder of c by a two-dimensional continuant fiat boundary. (axiom label in BFO2 Reference: [027-004])
(forall (x) (if (FiatObjectPart x) (and (MaterialEntity x) (forall (t) (if (existsAt x t) (exists (y) (and (Object y) (properContinuantPartOfAt x y t)))))))) // axiom label in BFO2 CLIF: [027-004]
fiat object part
b is a fiat object part = Def. b is a material entity which is such that for all times t, if b exists at t then there is some object c such that b proper continuant_part of c at t and c is demarcated from the remainder of c by a two-dimensional continuant fiat boundary. (axiom label in BFO2 Reference: [027-004])
(forall (x) (if (FiatObjectPart x) (and (MaterialEntity x) (forall (t) (if (existsAt x t) (exists (y) (and (Object y) (properContinuantPartOfAt x y t)))))))) // axiom label in BFO2 CLIF: [027-004]
1d-s-region
OneDimensionalSpatialRegion
an edge of a cube-shaped portion of space.
A one-dimensional spatial region is a line or aggregate of lines stretching from one point in space to another. (axiom label in BFO2 Reference: [038-001])
(forall (x) (if (OneDimensionalSpatialRegion x) (SpatialRegion x))) // axiom label in BFO2 CLIF: [038-001]
one-dimensional spatial region
A one-dimensional spatial region is a line or aggregate of lines stretching from one point in space to another. (axiom label in BFO2 Reference: [038-001])
(forall (x) (if (OneDimensionalSpatialRegion x) (SpatialRegion x))) // axiom label in BFO2 CLIF: [038-001]
object-aggregate
ObjectAggregate
a collection of cells in a blood biobank.
a swarm of bees is an aggregate of members who are linked together through natural bonds
a symphony orchestra
an organization is an aggregate whose member parts have roles of specific types (for example in a jazz band, a chess club, a football team)
defined by fiat: the aggregate of members of an organization
defined through physical attachment: the aggregate of atoms in a lump of granite
defined through physical containment: the aggregate of molecules of carbon dioxide in a sealed container
defined via attributive delimitations such as: the patients in this hospital
the aggregate of bearings in a constant velocity axle joint
the aggregate of blood cells in your body
the nitrogen atoms in the atmosphere
the restaurants in Palo Alto
your collection of Meissen ceramic plates.
An entity a is an object aggregate if and only if there is a mutually exhaustive and pairwise disjoint partition of a into objects
BFO 2 Reference: object aggregates may gain and lose parts while remaining numerically identical (one and the same individual) over time. This holds both for aggregates whose membership is determined naturally (the aggregate of cells in your body) and aggregates determined by fiat (a baseball team, a congressional committee).
ISBN:978-3-938793-98-5pp124-158#Thomas Bittner and Barry Smith, 'A Theory of Granular Partitions', in K. Munn and B. Smith (eds.), Applied Ontology: An Introduction, Frankfurt/Lancaster: ontos, 2008, 125-158.
b is an object aggregate means: b is a material entity consisting exactly of a plurality of objects as member_parts at all times at which b exists. (axiom label in BFO2 Reference: [025-004])
(forall (x) (if (ObjectAggregate x) (and (MaterialEntity x) (forall (t) (if (existsAt x t) (exists (y z) (and (Object y) (Object z) (memberPartOfAt y x t) (memberPartOfAt z x t) (not (= y z)))))) (not (exists (w t_1) (and (memberPartOfAt w x t_1) (not (Object w)))))))) // axiom label in BFO2 CLIF: [025-004]
object aggregate
An entity a is an object aggregate if and only if there is a mutually exhaustive and pairwise disjoint partition of a into objects
An entity a is an object aggregate if and only if there is a mutually exhaustive and pairwise disjoint partition of a into objects
An entity a is an object aggregate if and only if there is a mutually exhaustive and pairwise disjoint partition of a into objects
ISBN:978-3-938793-98-5pp124-158#Thomas Bittner and Barry Smith, 'A Theory of Granular Partitions', in K. Munn and B. Smith (eds.), Applied Ontology: An Introduction, Frankfurt/Lancaster: ontos, 2008, 125-158.
b is an object aggregate means: b is a material entity consisting exactly of a plurality of objects as member_parts at all times at which b exists. (axiom label in BFO2 Reference: [025-004])
(forall (x) (if (ObjectAggregate x) (and (MaterialEntity x) (forall (t) (if (existsAt x t) (exists (y z) (and (Object y) (Object z) (memberPartOfAt y x t) (memberPartOfAt z x t) (not (= y z)))))) (not (exists (w t_1) (and (memberPartOfAt w x t_1) (not (Object w)))))))) // axiom label in BFO2 CLIF: [025-004]
3d-s-region
ThreeDimensionalSpatialRegion
a cube-shaped region of space
a sphere-shaped region of space,
A three-dimensional spatial region is a spatial region that is of three dimensions. (axiom label in BFO2 Reference: [040-001])
(forall (x) (if (ThreeDimensionalSpatialRegion x) (SpatialRegion x))) // axiom label in BFO2 CLIF: [040-001]
three-dimensional spatial region
A three-dimensional spatial region is a spatial region that is of three dimensions. (axiom label in BFO2 Reference: [040-001])
(forall (x) (if (ThreeDimensionalSpatialRegion x) (SpatialRegion x))) // axiom label in BFO2 CLIF: [040-001]
site
Site
Manhattan Canyon)
a hole in the interior of a portion of cheese
a rabbit hole
an air traffic control region defined in the airspace above an airport
the Grand Canyon
the Piazza San Marco
the cockpit of an aircraft
the hold of a ship
the interior of a kangaroo pouch
the interior of the trunk of your car
the interior of your bedroom
the interior of your office
the interior of your refrigerator
the lumen of your gut
your left nostril (a fiat part – the opening – of your left nasal cavity)
b is a site means: b is a three-dimensional immaterial entity that is (partially or wholly) bounded by a material entity or it is a three-dimensional immaterial part thereof. (axiom label in BFO2 Reference: [034-002])
(forall (x) (if (Site x) (ImmaterialEntity x))) // axiom label in BFO2 CLIF: [034-002]
site
b is a site means: b is a three-dimensional immaterial entity that is (partially or wholly) bounded by a material entity or it is a three-dimensional immaterial part thereof. (axiom label in BFO2 Reference: [034-002])
(forall (x) (if (Site x) (ImmaterialEntity x))) // axiom label in BFO2 CLIF: [034-002]
object
Object
atom
cell
cells and organisms
engineered artifacts
grain of sand
molecule
organelle
organism
planet
solid portions of matter
star
BFO 2 Reference: BFO rests on the presupposition that at multiple micro-, meso- and macroscopic scales reality exhibits certain stable, spatially separated or separable material units, combined or combinable into aggregates of various sorts (for example organisms into what are called ‘populations’). Such units play a central role in almost all domains of natural science from particle physics to cosmology. Many scientific laws govern the units in question, employing general terms (such as ‘molecule’ or ‘planet’) referring to the types and subtypes of units, and also to the types and subtypes of the processes through which such units develop and interact. The division of reality into such natural units is at the heart of biological science, as also is the fact that these units may form higher-level units (as cells form multicellular organisms) and that they may also form aggregates of units, for example as cells form portions of tissue and organs form families, herds, breeds, species, and so on. At the same time, the division of certain portions of reality into engineered units (manufactured artifacts) is the basis of modern industrial technology, which rests on the distributed mass production of engineered parts through division of labor and on their assembly into larger, compound units such as cars and laptops. The division of portions of reality into units is one starting point for the phenomenon of counting.
BFO 2 Reference: Each object is such that there are entities of which we can assert unproblematically that they lie in its interior, and other entities of which we can assert unproblematically that they lie in its exterior. This may not be so for entities lying at or near the boundary between the interior and exterior. This means that two objects – for example the two cells depicted in Figure 3 – may be such that there are material entities crossing their boundaries which belong determinately to neither cell. Something similar obtains in certain cases of conjoined twins (see below).
BFO 2 Reference: To say that b is causally unified means: b is a material entity which is such that its material parts are tied together in such a way that, in environments typical for entities of the type in question,if c, a continuant part of b that is in the interior of b at t, is larger than a certain threshold size (which will be determined differently from case to case, depending on factors such as porosity of external cover) and is moved in space to be at t at a location on the exterior of the spatial region that had been occupied by b at t, then either b’s other parts will be moved in coordinated fashion or b will be damaged (be affected, for example, by breakage or tearing) in the interval between t and t.causal changes in one part of b can have consequences for other parts of b without the mediation of any entity that lies on the exterior of b. Material entities with no proper material parts would satisfy these conditions trivially. Candidate examples of types of causal unity for material entities of more complex sorts are as follows (this is not intended to be an exhaustive list):CU1: Causal unity via physical coveringHere the parts in the interior of the unified entity are combined together causally through a common membrane or other physical covering\. The latter points outwards toward and may serve a protective function in relation to what lies on the exterior of the entity [13, 47
BFO 2 Reference: an object is a maximal causally unified material entity
BFO 2 Reference: ‘objects’ are sometimes referred to as ‘grains’ [74
b is an object means: b is a material entity which manifests causal unity of one or other of the types CUn listed above & is of a type (a material universal) instances of which are maximal relative to this criterion of causal unity. (axiom label in BFO2 Reference: [024-001])
object
b is an object means: b is a material entity which manifests causal unity of one or other of the types CUn listed above & is of a type (a material universal) instances of which are maximal relative to this criterion of causal unity. (axiom label in BFO2 Reference: [024-001])
gdc
GenericallyDependentContinuant
The entries in your database are patterns instantiated as quality instances in your hard drive. The database itself is an aggregate of such patterns. When you create the database you create a particular instance of the generically dependent continuant type database. Each entry in the database is an instance of the generically dependent continuant type IAO: information content entity.
the pdf file on your laptop, the pdf file that is a copy thereof on my laptop
the sequence of this protein molecule; the sequence that is a copy thereof in that protein molecule.
b is a generically dependent continuant = Def. b is a continuant that g-depends_on one or more other entities. (axiom label in BFO2 Reference: [074-001])
(iff (GenericallyDependentContinuant a) (and (Continuant a) (exists (b t) (genericallyDependsOnAt a b t)))) // axiom label in BFO2 CLIF: [074-001]
generically dependent continuant
b is a generically dependent continuant = Def. b is a continuant that g-depends_on one or more other entities. (axiom label in BFO2 Reference: [074-001])
(iff (GenericallyDependentContinuant a) (and (Continuant a) (exists (b t) (genericallyDependsOnAt a b t)))) // axiom label in BFO2 CLIF: [074-001]
function
Function
the function of a hammer to drive in nails
the function of a heart pacemaker to regulate the beating of a heart through electricity
the function of amylase in saliva to break down starch into sugar
BFO 2 Reference: In the past, we have distinguished two varieties of function, artifactual function and biological function. These are not asserted subtypes of BFO:function however, since the same function – for example: to pump, to transport – can exist both in artifacts and in biological entities. The asserted subtypes of function that would be needed in order to yield a separate monoheirarchy are not artifactual function, biological function, etc., but rather transporting function, pumping function, etc.
A function is a disposition that exists in virtue of the bearer’s physical make-up and this physical make-up is something the bearer possesses because it came into being, either through evolution (in the case of natural biological entities) or through intentional design (in the case of artifacts), in order to realize processes of a certain sort. (axiom label in BFO2 Reference: [064-001])
(forall (x) (if (Function x) (Disposition x))) // axiom label in BFO2 CLIF: [064-001]
function
A function is a disposition that exists in virtue of the bearer’s physical make-up and this physical make-up is something the bearer possesses because it came into being, either through evolution (in the case of natural biological entities) or through intentional design (in the case of artifacts), in order to realize processes of a certain sort. (axiom label in BFO2 Reference: [064-001])
(forall (x) (if (Function x) (Disposition x))) // axiom label in BFO2 CLIF: [064-001]
p-boundary
ProcessBoundary
the boundary between the 2nd and 3rd year of your life.
p is a process boundary =Def. p is a temporal part of a process & p has no proper temporal parts. (axiom label in BFO2 Reference: [084-001])
Every process boundary occupies_temporal_region a zero-dimensional temporal region. (axiom label in BFO2 Reference: [085-002])
(forall (x) (if (ProcessBoundary x) (exists (y) (and (ZeroDimensionalTemporalRegion y) (occupiesTemporalRegion x y))))) // axiom label in BFO2 CLIF: [085-002]
(iff (ProcessBoundary a) (exists (p) (and (Process p) (temporalPartOf a p) (not (exists (b) (properTemporalPartOf b a)))))) // axiom label in BFO2 CLIF: [084-001]
process boundary
p is a process boundary =Def. p is a temporal part of a process & p has no proper temporal parts. (axiom label in BFO2 Reference: [084-001])
Every process boundary occupies_temporal_region a zero-dimensional temporal region. (axiom label in BFO2 Reference: [085-002])
(forall (x) (if (ProcessBoundary x) (exists (y) (and (ZeroDimensionalTemporalRegion y) (occupiesTemporalRegion x y))))) // axiom label in BFO2 CLIF: [085-002]
(iff (ProcessBoundary a) (exists (p) (and (Process p) (temporalPartOf a p) (not (exists (b) (properTemporalPartOf b a)))))) // axiom label in BFO2 CLIF: [084-001]
1d-t-region
OneDimensionalTemporalRegion
the temporal region during which a process occurs.
BFO 2 Reference: A temporal interval is a special kind of one-dimensional temporal region, namely one that is self-connected (is without gaps or breaks).
A one-dimensional temporal region is a temporal region that is extended. (axiom label in BFO2 Reference: [103-001])
(forall (x) (if (OneDimensionalTemporalRegion x) (TemporalRegion x))) // axiom label in BFO2 CLIF: [103-001]
one-dimensional temporal region
A one-dimensional temporal region is a temporal region that is extended. (axiom label in BFO2 Reference: [103-001])
(forall (x) (if (OneDimensionalTemporalRegion x) (TemporalRegion x))) // axiom label in BFO2 CLIF: [103-001]
material
MaterialEntity
a flame
a forest fire
a human being
a hurricane
a photon
a puff of smoke
a sea wave
a tornado
an aggregate of human beings.
an energy wave
an epidemic
the undetached arm of a human being
BFO 2 Reference: Material entities (continuants) can preserve their identity even while gaining and losing material parts. Continuants are contrasted with occurrents, which unfold themselves in successive temporal parts or phases [60
BFO 2 Reference: Object, Fiat Object Part and Object Aggregate are not intended to be exhaustive of Material Entity. Users are invited to propose new subcategories of Material Entity.
BFO 2 Reference: ‘Matter’ is intended to encompass both mass and energy (we will address the ontological treatment of portions of energy in a later version of BFO). A portion of matter is anything that includes elementary particles among its proper or improper parts: quarks and leptons, including electrons, as the smallest particles thus far discovered; baryons (including protons and neutrons) at a higher level of granularity; atoms and molecules at still higher levels, forming the cells, organs, organisms and other material entities studied by biologists, the portions of rock studied by geologists, the fossils studied by paleontologists, and so on.Material entities are three-dimensional entities (entities extended in three spatial dimensions), as contrasted with the processes in which they participate, which are four-dimensional entities (entities extended also along the dimension of time).According to the FMA, material entities may have immaterial entities as parts – including the entities identified below as sites; for example the interior (or ‘lumen’) of your small intestine is a part of your body. BFO 2.0 embodies a decision to follow the FMA here.
A material entity is an independent continuant that has some portion of matter as proper or improper continuant part. (axiom label in BFO2 Reference: [019-002])
Every entity which has a material entity as continuant part is a material entity. (axiom label in BFO2 Reference: [020-002])
every entity of which a material entity is continuant part is also a material entity. (axiom label in BFO2 Reference: [021-002])
(forall (x) (if (MaterialEntity x) (IndependentContinuant x))) // axiom label in BFO2 CLIF: [019-002]
(forall (x) (if (and (Entity x) (exists (y t) (and (MaterialEntity y) (continuantPartOfAt x y t)))) (MaterialEntity x))) // axiom label in BFO2 CLIF: [021-002]
(forall (x) (if (and (Entity x) (exists (y t) (and (MaterialEntity y) (continuantPartOfAt y x t)))) (MaterialEntity x))) // axiom label in BFO2 CLIF: [020-002]
material entity
A material entity is an independent continuant that has some portion of matter as proper or improper continuant part. (axiom label in BFO2 Reference: [019-002])
Every entity which has a material entity as continuant part is a material entity. (axiom label in BFO2 Reference: [020-002])
every entity of which a material entity is continuant part is also a material entity. (axiom label in BFO2 Reference: [021-002])
(forall (x) (if (MaterialEntity x) (IndependentContinuant x))) // axiom label in BFO2 CLIF: [019-002]
(forall (x) (if (and (Entity x) (exists (y t) (and (MaterialEntity y) (continuantPartOfAt x y t)))) (MaterialEntity x))) // axiom label in BFO2 CLIF: [021-002]
(forall (x) (if (and (Entity x) (exists (y t) (and (MaterialEntity y) (continuantPartOfAt y x t)))) (MaterialEntity x))) // axiom label in BFO2 CLIF: [020-002]
cf-boundary
ContinuantFiatBoundary
b is a continuant fiat boundary = Def. b is an immaterial entity that is of zero, one or two dimensions and does not include a spatial region as part. (axiom label in BFO2 Reference: [029-001])
BFO 2 Reference: In BFO 1.1 the assumption was made that the external surface of a material entity such as a cell could be treated as if it were a boundary in the mathematical sense. The new document propounds the view that when we talk about external surfaces of material objects in this way then we are talking about something fiat. To be dealt with in a future version: fiat boundaries at different levels of granularity.More generally, the focus in discussion of boundaries in BFO 2.0 is now on fiat boundaries, which means: boundaries for which there is no assumption that they coincide with physical discontinuities. The ontology of boundaries becomes more closely allied with the ontology of regions.
BFO 2 Reference: a continuant fiat boundary is a boundary of some material entity (for example: the plane separating the Northern and Southern hemispheres; the North Pole), or it is a boundary of some immaterial entity (for example of some portion of airspace). Three basic kinds of continuant fiat boundary can be distinguished (together with various combination kinds [29
Continuant fiat boundary doesn't have a closure axiom because the subclasses don't necessarily exhaust all possibilites. An example would be the mereological sum of two-dimensional continuant fiat boundary and a one dimensional continuant fiat boundary that doesn't overlap it. The situation is analogous to temporal and spatial regions.
Every continuant fiat boundary is located at some spatial region at every time at which it exists
(iff (ContinuantFiatBoundary a) (and (ImmaterialEntity a) (exists (b) (and (or (ZeroDimensionalSpatialRegion b) (OneDimensionalSpatialRegion b) (TwoDimensionalSpatialRegion b)) (forall (t) (locatedInAt a b t)))) (not (exists (c t) (and (SpatialRegion c) (continuantPartOfAt c a t)))))) // axiom label in BFO2 CLIF: [029-001]
continuant fiat boundary
Continuant fiat boundary doesn't have a closure axiom because the subclasses don't necessarily exhaust all possibilites. An example would be the mereological sum of two-dimensional continuant fiat boundary and a one dimensional continuant fiat boundary that doesn't overlap it. The situation is analogous to temporal and spatial regions.
(iff (ContinuantFiatBoundary a) (and (ImmaterialEntity a) (exists (b) (and (or (ZeroDimensionalSpatialRegion b) (OneDimensionalSpatialRegion b) (TwoDimensionalSpatialRegion b)) (forall (t) (locatedInAt a b t)))) (not (exists (c t) (and (SpatialRegion c) (continuantPartOfAt c a t)))))) // axiom label in BFO2 CLIF: [029-001]
b is a continuant fiat boundary = Def. b is an immaterial entity that is of zero, one or two dimensions and does not include a spatial region as part. (axiom label in BFO2 Reference: [029-001])
immaterial
ImmaterialEntity
BFO 2 Reference: Immaterial entities are divided into two subgroups:boundaries and sites, which bound, or are demarcated in relation, to material entities, and which can thus change location, shape and size and as their material hosts move or change shape or size (for example: your nasal passage; the hold of a ship; the boundary of Wales (which moves with the rotation of the Earth) [38, 7, 10
immaterial entity
1d-cf-boundary
OneDimensionalContinuantFiatBoundary
The Equator
all geopolitical boundaries
all lines of latitude and longitude
the line separating the outer surface of the mucosa of the lower lip from the outer surface of the skin of the chin.
the median sulcus of your tongue
a one-dimensional continuant fiat boundary is a continuous fiat line whose location is defined in relation to some material entity. (axiom label in BFO2 Reference: [032-001])
(iff (OneDimensionalContinuantFiatBoundary a) (and (ContinuantFiatBoundary a) (exists (b) (and (OneDimensionalSpatialRegion b) (forall (t) (locatedInAt a b t)))))) // axiom label in BFO2 CLIF: [032-001]
one-dimensional continuant fiat boundary
a one-dimensional continuant fiat boundary is a continuous fiat line whose location is defined in relation to some material entity. (axiom label in BFO2 Reference: [032-001])
(iff (OneDimensionalContinuantFiatBoundary a) (and (ContinuantFiatBoundary a) (exists (b) (and (OneDimensionalSpatialRegion b) (forall (t) (locatedInAt a b t)))))) // axiom label in BFO2 CLIF: [032-001]
process-profile
ProcessProfile
On a somewhat higher level of complexity are what we shall call rate process profiles, which are the targets of selective abstraction focused not on determinate quality magnitudes plotted over time, but rather on certain ratios between these magnitudes and elapsed times. A speed process profile, for example, is represented by a graph plotting against time the ratio of distance covered per unit of time. Since rates may change, and since such changes, too, may have rates of change, we have to deal here with a hierarchy of process profile universals at successive levels
One important sub-family of rate process profiles is illustrated by the beat or frequency profiles of cyclical processes, illustrated by the 60 beats per minute beating process of John’s heart, or the 120 beats per minute drumming process involved in one of John’s performances in a rock band, and so on. Each such process includes what we shall call a beat process profile instance as part, a subtype of rate process profile in which the salient ratio is not distance covered but rather number of beat cycles per unit of time. Each beat process profile instance instantiates the determinable universal beat process profile. But it also instantiates multiple more specialized universals at lower levels of generality, selected from rate process profilebeat process profileregular beat process profile3 bpm beat process profile4 bpm beat process profileirregular beat process profileincreasing beat process profileand so on.In the case of a regular beat process profile, a rate can be assigned in the simplest possible fashion by dividing the number of cycles by the length of the temporal region occupied by the beating process profile as a whole. Irregular process profiles of this sort, for example as identified in the clinic, or in the readings on an aircraft instrument panel, are often of diagnostic significance.
The simplest type of process profiles are what we shall call ‘quality process profiles’, which are the process profiles which serve as the foci of the sort of selective abstraction that is involved when measurements are made of changes in single qualities, as illustrated, for example, by process profiles of mass, temperature, aortic pressure, and so on.
b is a process_profile =Def. there is some process c such that b process_profile_of c (axiom label in BFO2 Reference: [093-002])
b process_profile_of c holds when b proper_occurrent_part_of c& there is some proper_occurrent_part d of c which has no parts in common with b & is mutually dependent on b& is such that b, c and d occupy the same temporal region (axiom label in BFO2 Reference: [094-005])
(forall (x y) (if (processProfileOf x y) (and (properContinuantPartOf x y) (exists (z t) (and (properOccurrentPartOf z y) (TemporalRegion t) (occupiesSpatioTemporalRegion x t) (occupiesSpatioTemporalRegion y t) (occupiesSpatioTemporalRegion z t) (not (exists (w) (and (occurrentPartOf w x) (occurrentPartOf w z))))))))) // axiom label in BFO2 CLIF: [094-005]
(iff (ProcessProfile a) (exists (b) (and (Process b) (processProfileOf a b)))) // axiom label in BFO2 CLIF: [093-002]
process profile
b is a process_profile =Def. there is some process c such that b process_profile_of c (axiom label in BFO2 Reference: [093-002])
b process_profile_of c holds when b proper_occurrent_part_of c& there is some proper_occurrent_part d of c which has no parts in common with b & is mutually dependent on b& is such that b, c and d occupy the same temporal region (axiom label in BFO2 Reference: [094-005])
(forall (x y) (if (processProfileOf x y) (and (properContinuantPartOf x y) (exists (z t) (and (properOccurrentPartOf z y) (TemporalRegion t) (occupiesSpatioTemporalRegion x t) (occupiesSpatioTemporalRegion y t) (occupiesSpatioTemporalRegion z t) (not (exists (w) (and (occurrentPartOf w x) (occurrentPartOf w z))))))))) // axiom label in BFO2 CLIF: [094-005]
(iff (ProcessProfile a) (exists (b) (and (Process b) (processProfileOf a b)))) // axiom label in BFO2 CLIF: [093-002]
r-quality
RelationalQuality
John’s role of husband to Mary is dependent on Mary’s role of wife to John, and both are dependent on the object aggregate comprising John and Mary as member parts joined together through the relational quality of being married.
a marriage bond, an instance of requited love, an obligation between one person and another.
b is a relational quality = Def. for some independent continuants c, d and for some time t: b quality_of c at t & b quality_of d at t. (axiom label in BFO2 Reference: [057-001])
(iff (RelationalQuality a) (exists (b c t) (and (IndependentContinuant b) (IndependentContinuant c) (qualityOfAt a b t) (qualityOfAt a c t)))) // axiom label in BFO2 CLIF: [057-001]
relational quality
b is a relational quality = Def. for some independent continuants c, d and for some time t: b quality_of c at t & b quality_of d at t. (axiom label in BFO2 Reference: [057-001])
(iff (RelationalQuality a) (exists (b c t) (and (IndependentContinuant b) (IndependentContinuant c) (qualityOfAt a b t) (qualityOfAt a c t)))) // axiom label in BFO2 CLIF: [057-001]
2d-cf-boundary
TwoDimensionalContinuantFiatBoundary
a two-dimensional continuant fiat boundary (surface) is a self-connected fiat surface whose location is defined in relation to some material entity. (axiom label in BFO2 Reference: [033-001])
(iff (TwoDimensionalContinuantFiatBoundary a) (and (ContinuantFiatBoundary a) (exists (b) (and (TwoDimensionalSpatialRegion b) (forall (t) (locatedInAt a b t)))))) // axiom label in BFO2 CLIF: [033-001]
two-dimensional continuant fiat boundary
a two-dimensional continuant fiat boundary (surface) is a self-connected fiat surface whose location is defined in relation to some material entity. (axiom label in BFO2 Reference: [033-001])
(iff (TwoDimensionalContinuantFiatBoundary a) (and (ContinuantFiatBoundary a) (exists (b) (and (TwoDimensionalSpatialRegion b) (forall (t) (locatedInAt a b t)))))) // axiom label in BFO2 CLIF: [033-001]
0d-cf-boundary
ZeroDimensionalContinuantFiatBoundary
the geographic North Pole
the point of origin of some spatial coordinate system.
the quadripoint where the boundaries of Colorado, Utah, New Mexico, and Arizona meet
zero dimension continuant fiat boundaries are not spatial points. Considering the example 'the quadripoint where the boundaries of Colorado, Utah, New Mexico, and Arizona meet' : There are many frames in which that point is zooming through many points in space. Whereas, no matter what the frame, the quadripoint is always in the same relation to the boundaries of Colorado, Utah, New Mexico, and Arizona.
a zero-dimensional continuant fiat boundary is a fiat point whose location is defined in relation to some material entity. (axiom label in BFO2 Reference: [031-001])
(iff (ZeroDimensionalContinuantFiatBoundary a) (and (ContinuantFiatBoundary a) (exists (b) (and (ZeroDimensionalSpatialRegion b) (forall (t) (locatedInAt a b t)))))) // axiom label in BFO2 CLIF: [031-001]
zero-dimensional continuant fiat boundary
zero dimension continuant fiat boundaries are not spatial points. Considering the example 'the quadripoint where the boundaries of Colorado, Utah, New Mexico, and Arizona meet' : There are many frames in which that point is zooming through many points in space. Whereas, no matter what the frame, the quadripoint is always in the same relation to the boundaries of Colorado, Utah, New Mexico, and Arizona.
a zero-dimensional continuant fiat boundary is a fiat point whose location is defined in relation to some material entity. (axiom label in BFO2 Reference: [031-001])
(iff (ZeroDimensionalContinuantFiatBoundary a) (and (ContinuantFiatBoundary a) (exists (b) (and (ZeroDimensionalSpatialRegion b) (forall (t) (locatedInAt a b t)))))) // axiom label in BFO2 CLIF: [031-001]
0d-t-region
ZeroDimensionalTemporalRegion
a temporal region that is occupied by a process boundary
right now
the moment at which a child is born
the moment at which a finger is detached in an industrial accident
the moment of death.
temporal instant.
A zero-dimensional temporal region is a temporal region that is without extent. (axiom label in BFO2 Reference: [102-001])
(forall (x) (if (ZeroDimensionalTemporalRegion x) (TemporalRegion x))) // axiom label in BFO2 CLIF: [102-001]
zero-dimensional temporal region
A zero-dimensional temporal region is a temporal region that is without extent. (axiom label in BFO2 Reference: [102-001])
(forall (x) (if (ZeroDimensionalTemporalRegion x) (TemporalRegion x))) // axiom label in BFO2 CLIF: [102-001]
history
History
A history is a process that is the sum of the totality of processes taking place in the spatiotemporal region occupied by a material entity or site, including processes on the surface of the entity or within the cavities to which it serves as host. (axiom label in BFO2 Reference: [138-001])
history
A history is a process that is the sum of the totality of processes taking place in the spatiotemporal region occupied by a material entity or site, including processes on the surface of the entity or within the cavities to which it serves as host. (axiom label in BFO2 Reference: [138-001])
MGI:2159768
https://www.ncbi.nlm.nih.gov/pubmed/26254980
mouse DBA/2 inbred strain
小鼠DBA/2近交系
true
YH, AD
https://en.wikipedia.org/wiki/Embryonic_stem_cell
https://en.wikipedia.org/wiki/Induced_pluripotent_stem_cell
https://www.ncbi.nlm.nih.gov/pubmed/16904174
A stem cell line cell that is pluripotent and is generated from an adult somatic cell.
iPS cell
iPSC
https://www.ncbi.nlm.nih.gov/pubmed/30233290
induced pluripotent stem cell line cell
true
A quantitative or qualitative value which is the result of an act of assessing a morphological or physiological state or property in a single individual or sample or a group of individuals or samples, based on direct observation or experimental manipulation.
Clinical Evaluation
Laboratory test
clinical measurement
http://www.case.edu/EpSO.owl#ClinicalEvaluation
true
Any value resulting from the quantification of a morphological or physiological parameter pertaining to the heart and/or blood vessels.
cardiovascular measurement
The number of contractions of the cardiac ventricles per unit of time.
https://www.ncbi.nlm.nih.gov/pubmed/12181003
heart rate
true
true
Measurement of the structure or forms of the entire body or parts of the body of an organism.
anthropometric measurement
morphometry
body morphological measurement
A quantification of a parameter of the chemical composition of blood.
blood molecular composition measurement
blood chemistry measurement
https://www.webmd.com/epilepsy/guide/epilepsy-blood-test
true
The number of white blood cells in a specified volume of blood.
leukocyte count
white corpuscle count
white blood cell count
https://www.webmd.com/epilepsy/guide/epilepsy-blood-test
true
Any measurement involving the amount, composition or type of protein, the complex organic compounds containing carbon, hydrogen, oxygen, nitrogen, and sulfur consisting of alpha-amino acids joined by peptide linkages, in blood.
blood protein measurement
The number of platelets (thrombocytes) in a specified volume of blood, usually expressed as platelets per cubic millimeter of whole blood.
platelet count
https://www.epilepsy.com/learn/treating-seizures-and-epilepsy/seizure-and-epilepsy-medicines/blood-testing
true
A measurement of the blood, it's contents, cells or other factors contained within the blood.
blood measurement
https://www.webmd.com/epilepsy/guide/epilepsy-blood-test
true
A value resulting from the quantification of a morphological or physiological parameter of blood cells, i.e. cells native to the circulation, including those of erythroid, lymphoid, myeloid and monocytic lineages. A cell is a membrane-enclosed protoplasmic mass constituting the smallest structural unit of an organism that is capable of independent functioning.
blood cell measurement
Percentage of total blood volume that is made up of red blood cells.
Hct
packed cell volume
packed red blood cell volume
hematocrit
https://www.webmd.com/epilepsy/guide/epilepsy-blood-test
true
A measure of the average volume or size of a single red blood cell. It is derived by dividing the total volume of packed red blood cells by the total red blood cell count.
MCV
mean corpuscular volume
https://www.webmd.com/epilepsy/guide/epilepsy-blood-test
true
mshimoyama
2009-12-17T10:41:54Z
Measurement of the amount of glucose, the monosaccharide sugar, C6H12O6, occurring widely in plant and animal tissues which is one of the three dietary monosaccharides that are absorbed directly into the bloodstream during digestion, is the end product of carbohydrate metabolism, and is the chief source of energy for living organisms, in a specified volume of blood, the fluid that circulates through the heart, arteries, capillaries and veins carrying nutrients and oxygen to the body tissues and metabolites away from them.
https://www.ncbi.nlm.nih.gov/pubmed/29110774
blood glucose level
https://www.webmd.com/epilepsy/guide/epilepsy-blood-test
true
A quantification of one or more mineral salts found in the blood in the form of electrically charged ions.
blood electrolyte measurement
Any quantitation of the catalytic effect exerted by an enzyme in a specified sample of blood. An enzyme is a protein that catalyzes chemical reactions of other substances without itself being destroyed or altered upon completion of the reaction(s).
Not4Curation
blood enzyme activity level
A measurement to assess the morphological or physiological state of the respiratory system or portion of the respiratory system.
respiratory system measurement
mshimoyama
2011-09-21T11:16:38Z
ventilation measurement
mshimoyama
2010-06-10T09:12:14Z
Morphological measurement of the top most or forward most division of an organism's body usually containing the brain and sense organs.
head morphological measurement
mshimoyama
2010-06-10T09:12:29Z
Total distance around the head of an organism.
https://www.ncbi.nlm.nih.gov/pubmed/2384077
head circumference
true
true
mshimoyama
2010-06-17T10:30:36Z
Any quantification of a morphological or physiological parameter of one or more cells. A cell is a membrane-enclosed protoplasmic mass constituting the smallest structural unit of an organism that is capable of independent functioning.
cell measurement
mshimoyama
2010-06-17T11:28:45Z
Distance completely around the body in the area between the thorax and hips. In humans, this is commonly at the umbilicus.
waist girth
https://www.ncbi.nlm.nih.gov/pubmed/25179745
waist circumference
true
true
mshimoyama
2011-09-21T11:30:32Z
The number of breaths taken by an organism per unit of time.
breathing frequency
pulmonary ventilation rate
respiratory rate
respiration rate
true
mshimoyama
2010-08-04T10:37:40Z
The count of the rhythmic contractions and expansions of an artery due to the surge of blood from the beat of the heart.
pulse
true
mshimoyama
2010-08-04T01:50:13Z
abdominal morphological measurement
mshimoyama
2011-01-04T02:53:16Z
The amount of potassium ions in a specified volume of blood.
blood potassium level
https://www.webmd.com/epilepsy/guide/epilepsy-blood-test
true
mshimoyama
2011-01-04T03:13:20Z
The amount of calcium ions in a specified volume of blood.
blood calcium level
https://www.webmd.com/epilepsy/guide/epilepsy-blood-test
true
mshimoyama
2011-01-05T09:20:32Z
A measure of the oxygen carrying pigment of erythrocytes.
haemoglobin measurement
hemoglobin measurement
https://www.webmd.com/epilepsy/guide/epilepsy-blood-test
true
JSmith
2012-02-15T05:06:19Z
This is not the same term as the original "heart measurement". That term is now "heart morphological measurement".
heart measurement
JSmith
2012-07-12T01:22:42Z
Any measurement of platelets, the disk-shaped structures found in the blood of mammals which play a vital role in blood coagulation. Platelets lack nuclei and DNA but contain active enzymes and mitochondria.
platelet measurement
https://www.epilepsy.com/learn/treating-seizures-and-epilepsy/seizure-and-epilepsy-medicines/blood-testing
true
JSmith
2013-01-07T13:38:48Z
Any measurement of the nervous system, the organ system which, along with the endocrine system, correlates the adjustments and reactions of the organism to its internal and external environment via transmission of information, in the form of electrochemical impulses, throughout the body.
nervous system measurement
JSmith
2013-01-07T16:14:04Z
Any measurement of the fluid contained within the ventricles of the brain, the subarachnoid space, and the central canal of the spinal cord.
https://www.ncbi.nlm.nih.gov/pubmed/26575850
cerebrospinal fluid measurement
true
JSmith
2013-01-07T16:22:14Z
A quantification of a parameter of the chemical composition of the cerebrospinal fluid, the fluid contained within the ventricles of the brain, the subarachnoid space, and the central canal of the spinal cord.
Not4Curation
cerebrospinal fluid chemistry measurement
https://link.springer.com/article/10.1007/BF02075764
true
JSmith
2013-01-07T16:25:29Z
A quantification of one or more mineral salts found in the cerebrospinal fluid in the form of electrically charged ions.
cerebrospinal fluid electrolyte measurement
https://link.springer.com/article/10.1007/BF02075764
true
JSmith
2013-01-07T16:39:25Z
Measurement of the amount of choride, the negatively charged ion of chlorine, found in a specified volume of cerebrospinal fluid.
cerebrospinal fluid chloride level
https://link.springer.com/article/10.1007/BF02075764
true
JSmith
2013-01-07T16:42:05Z
The amount of cationic sodium in a specified volume of cerebrospinal fluid.
cerebrospinal fluid sodium level
https://link.springer.com/article/10.1007/BF02075764
true
JSmith
2013-01-09T13:44:03Z
The amount of lactate, a salt of lactic acid which is produced in the body by anaerobic metabolism of carbohydrate, in a specified volume of blood.
https://www.ncbi.nlm.nih.gov/pubmed/29110774
blood lactate level
true
JSmith
2013-01-10T17:31:25Z
Any measurement of a single red blood cell, one of the hemoglobin-containing blood cells that transport oxygen and carbon dioxide to and from the tissues, or of all of the red blood cells in a sample of blood.
erythrocyte measurement
red blood cell measurement
https://www.webmd.com/epilepsy/guide/epilepsy-blood-test
JSmith
2013-11-26T11:05:41Z
Any measurement related to a morphological or physiological parameter, such as the amount or composition, of cytokines in blood, the fluid that circulates through the heart, arteries, capillaries and veins carrying nutrients and oxygen to the body tissues and metabolites away from them. A cytokine is a type of nonantibody protein released by a cell population on contact with specific antigen, which acts as an intercellular mediator, as in the generation of an immune response.
https://www.ncbi.nlm.nih.gov/pubmed/28288363
blood cytokine measurement
true
JSmith
2013-12-02T13:23:47Z
Any quantification of a morphological or physiological parameter of the central nervous system, i.e., the brain and/or spinal cord.
CNS measurement
central nervous system measurement
JSmith
2014-03-11T14:12:54Z
The amount of enzymatic activity of creatine kinase (CK) enzyme in a specified sample of blood. CK catalyses the reversible transfer of phosphate between ATP and various phosphogens such as creatine phosphate. Blood CK level is used as an enzymatic marker for myocardial infarction, rhabdomyolysis and acute renal failure.
blood creatine phosphokinase activity level
blood CK activity level
blood CPK activity level
https://www.ncbi.nlm.nih.gov/pubmed/28288363
blood creatine kinase activity level
true
JSmith
2014-04-24T12:47:44Z
Any value resulting from the quantification of a morphological or physiological parameter of leukocytes, largely colorless blood corpuscles capable of ameboid movement, whose chief function is to protect the body against microorganisms and other disease-causing entities.
leukocyte measurement
white blood cell measurement
https://www.webmd.com/epilepsy/guide/epilepsy-blood-test
true
JSmith
2014-06-24T15:58:42Z
Any measurement of a protein that catalyzes chemical reactions of other substances without itself being destroyed or altered upon completion of the reaction(s) in a specified sample of blood.
Not4Curation
blood enzyme measurement
A disease that involving errors in metabolic processes of building or degradation of molecules.
ICD10CM:E88.9
ICD9CM:277.9
MESH:D008659
NCI:C3235
SNOMEDCT_US_2018_03_01:30390004
SNOMEDCT_US_2018_03_01:75934005
UMLS_CUI:C0025517
Metabolic Disorder
metabolic disease
disease_ontology
DOID:0014667
disease of metabolism
https://www.epilepsy.com/learn/professionals/co-existing-disorders/metabolic-disorders
true
An acquired metabolic disease that is characterized by abnormal carbohydrate metabolism.
disease_ontology
DOID:0050013
carbohydrate metabolism disease
A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions.
infectious disease
DOID:10115
DOID:11078
DOID:1304
DOID:1321
DOID:2040
DOID:2288
DOID:3099
DOID:4120
DOID:4620
DOID:5256
DOID:945
DOID:95
DOID:9532
DOID:9696
ICD9CM:079.0
UMLS_CUI:C0001485
infectious disease
disease_ontology
DOID:0050117
DO:wk
disease by infectious agent
A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell).
disease_ontology
DOID:0050155
sensory system disease
A respiratory system disease which involves the lower respiratory tract.
ICD9CM:478.1
ICD9CM:478.19
UMLS_CUI:C0029581
disease_ontology
DOID:0050161
lower respiratory tract disease
A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
disease_ontology
DOID:0050177
monogenic disease
A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread.
disease_ontology
DOID:0050338
primary bacterial infectious disease
A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them.
EFO:0004270
GARD:11926
ICD10CM:G25.81
ICD9CM:333.94
MESH:D012148
NCI:C84501
OMIM:PS102300
SNOMEDCT_US_2018_03_01:32914008
UMLS_CUI:C0035258
WED
Willis-Ekbom disease
Wittmaack-Ekbom syndrome
disease_ontology
DOID:0050425
Xref MGI.
restless legs syndrome
http://www.case.edu/EpSO.owl#RestlessLegSyndrome
https://www.epilepsy.com/learn/professionals/co-existing-disorders/sleep-disorders/periodic-limb-movements-and-restless-legs
true
A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death.
https://www.ncbi.nlm.nih.gov/pubmed/23538271
ICD10CM:I49.8
MESH:D053840
OMIM:PS601144
ORDO:130
UMLS_CUI:C1142166
UMLS_CUI:C1721096
Bangungut
Brugada type idiopathic ventricular fibrillation
Dream disease
Pokkuri death syndrome
SUNDS
sudden unexplained nocturnal death syndrome
disease_ontology
DOID:0050451
OMIM mapping confirmed by DO. [SN].
Brugada syndrome
true
A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation.
GARD:12291
ICD10CM:Q04.3
ICD10CM:Q04.8
MESH:D054082
NCI:C103921
OMIM:300067
OMIM:300215
OMIM:607432
OMIM:611603
OMIM:614019
OMIM:615191
ORDO:102009
SNOMEDCT_US_2018_03_01:23024003
UMLS_CUI:C0266463
UMLS_CUI:C0266483
Lissencephaly is a malformation of cortical development, where there is deficient gyration (folding) in the cerebral cortex, resulting in absent gyri (agyria) and/or broad simple gyri (pachygyria).
disease_ontology
DOID:0050453
Xref MGI.
OMIM mapping confirmed by DO. [SN].
lissencephaly
true
Lissencephaly is a malformation of cortical development, where there is deficient gyration (folding) in the cerebral cortex, resulting in absent gyri (agyria) and/or broad simple gyri (pachygyria).
https://www.epilepsydiagnosis.org/aetiology/lissencephaly-overview.html
A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a microdeletion of the short arm of chromosome 4.
DOID:6684
GARD:7896
ICD10CM:Q93.3
MESH:D054877
NCI:C35528
OMIM:194190
ORDO:280
SNOMEDCT_US_2018_03_01:17122004
UMLS_CUI:C0796117
UMLS_CUI:C1956097
Wolf-Hirschhorn syndrome results from the partial deletion of the short arm of chromosome 4. The abnormality results in developmental delay, intellectual impairment (severe), hypotonia and epilepsy, and a number of dysmorphic features (microcephaly, micrognathia, short philtrum, epicanthic folds, high forehead, prominent glabella, ocular hypertelorism, dysplastic ears and peri-auricular tags). The nose may have a 'Greek helmet' appearance. There may also be congenital heart defects, hypospadias, colobomata of the iris, renal anomalies, cleft lip and/or palate and deafness. Immune disorders including common variable immunodeficiency and IgA deficiency may occur. Neuroimaging may show abnormalities of the corpus callosum or cerebellum, or other abnormality. Most cases are sporadic, with 10% inherited from a parent with a translocation. Seizures occur in the majority (>90%), typically starting in the first three years of life, with generalized tonic-clonic or hemiclonic seizures facilitated by fever (resulting in seizure clusters or status epilepticus) seen at that time. Epileptic spasms, atypical absences and focal seizures may also occur. EEG patterns of two types are recognized - diffuse, atypical slow sharp/spike-and-wave complexes in long bursts activated by slow wave sleep or high amplitude fast spike/polyspike-and-wave with posterior emphasis, triggered by eye closure. Seizures are usually well-controlled with monotherapy and improve with age. Routine karyotype assessment may not allow diagnosis of this syndrome, FISH analysis with sub-telomeric region-specific probes or CGH microarray are usually necessary.
4p deletion syndrome
PITT SYNDROME
Pitt-Rogers-Danks Syndrome
Wolf-Hirschhorn syndrome (del 4p)
chromosome 4p16.3 deletion syndrome
disease_ontology
DOID:0050460
OMIM mapping confirmed by DO. [LS].
Wolf-Hirschhorn syndrome
true
true
Wolf-Hirschhorn syndrome results from the partial deletion of the short arm of chromosome 4. The abnormality results in developmental delay, intellectual impairment (severe), hypotonia and epilepsy, and a number of dysmorphic features (microcephaly, micrognathia, short philtrum, epicanthic folds, high forehead, prominent glabella, ocular hypertelorism, dysplastic ears and peri-auricular tags). The nose may have a 'Greek helmet' appearance. There may also be congenital heart defects, hypospadias, colobomata of the iris, renal anomalies, cleft lip and/or palate and deafness. Immune disorders including common variable immunodeficiency and IgA deficiency may occur. Neuroimaging may show abnormalities of the corpus callosum or cerebellum, or other abnormality. Most cases are sporadic, with 10% inherited from a parent with a translocation. Seizures occur in the majority (>90%), typically starting in the first three years of life, with generalized tonic-clonic or hemiclonic seizures facilitated by fever (resulting in seizure clusters or status epilepticus) seen at that time. Epileptic spasms, atypical absences and focal seizures may also occur. EEG patterns of two types are recognized - diffuse, atypical slow sharp/spike-and-wave complexes in long bursts activated by slow wave sleep or high amplitude fast spike/polyspike-and-wave with posterior emphasis, triggered by eye closure. Seizures are usually well-controlled with monotherapy and improve with age. Routine karyotype assessment may not allow diagnosis of this syndrome, FISH analysis with sub-telomeric region-specific probes or CGH microarray are usually necessary.
https://www.epilepsydiagnosis.org/aetiology/chromosomal-abnormalities-overview.html#wolf
A childhood electroclinical syndrome that is characterized by frequent seizures and intellectual disability that present in early childhood.
GARD:9912
OMIM:606369
ORDO:2382
This syndrome is characterized by the presence multiple types of intractable seizures (in particular tonic seizures in sleep, but atonic and atypical absence seizures also occur), cognitive and behavioral impairments and diffuse slow spike-and-wave and paroxysms of fast activity on EEG.
Lennox syndrome
disease_ontology
DOID:0050561
Lennox-Gastaut syndrome
true
This syndrome is characterized by the presence multiple types of intractable seizures (in particular tonic seizures in sleep, but atonic and atypical absence seizures also occur), cognitive and behavioral impairments and diffuse slow spike-and-wave and paroxysms of fast activity on EEG.
https://www.epilepsydiagnosis.org/syndrome/lgs-overview.html
An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability.
GARD:7887
MESH:D013036
NCI:C84788
ORDO:3451
West syndrome is characterized by the onset of epileptic spasms, typically in the first year of life. Global developmental impairment (with or without regression) is typically seen.
disease_ontology
Infantile spasms syndrome
DOID:0050562
West syndrome
true
true
true
West syndrome is characterized by the onset of epileptic spasms, typically in the first year of life. Global developmental impairment (with or without regression) is typically seen.
https://www.epilepsydiagnosis.org/syndrome/west-syndrome-overview.html
An intestinal disease characterized by inflammation located_in all parts of digestive tract.
EFO:0003767
KEGG:05321
MESH:D015212
NCI:C3138
OMIM:PS266600
SNOMEDCT_US_2018_03_01:24526004
UMLS_CUI:C0021390
disease_ontology
DOID:0050589
Xref MGI.
OMIM mapping confirmed by DO. [SN].
inflammatory bowel disease
A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning.
OMIM:PS604348
ORDO:164736
familial advanced sleep-phase syndrome
disease_ontology
DOID:0050628
Xref MGI.
advanced sleep phase syndrome
http://www.case.edu/EpSO.owl#AdvancedSleepPhaseSyndrome
A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body.
GARD:11
ICD10CM:G98
MESH:C536589
OMIM:104290
OMIM:614820
ORDO:2131
Alternating hemiplegia of childhood is a rare disorder, with onset in the first year of life, characterised by recurrent attacks of hemiplegia affecting either side of the body. There may be bilateral weakness from the onset of episodes or during the attacks. Attacks may last minutes to more than half an hour. Other signs include nystagmus, pallor, crying, eye deviation, autonomic symptoms and dystonic and tonic elements during the episodes, with choreoathetosis between episodes. Events may be mistaken for focal seizures. Parkinsonian features may develop over time. Events may be triggered by stress, water, certain foods and exercise. Sleep allows the symptoms in an episode to resolve, however they may return 10-20 minutes after waking. Affected infants have learning disability and abnormal motor development. A significant proportion of individuals will also have focal seizures. The vast majority of individuals (about 80%), have mutations in the ATP1A3 gene.
AHC
Alternating hemiplegia
disease_ontology
DOID:0050635
Xref MGI.
OMIM mapping confirmed by DO. [SN].
alternating hemiplegia of childhood
true
Alternating hemiplegia of childhood is a rare disorder, with onset in the first year of life, characterised by recurrent attacks of hemiplegia affecting either side of the body. There may be bilateral weakness from the onset of episodes or during the attacks. Attacks may last minutes to more than half an hour. Other signs include nystagmus, pallor, crying, eye deviation, autonomic symptoms and dystonic and tonic elements during the episodes, with choreoathetosis between episodes. Events may be mistaken for focal seizures. Parkinsonian features may develop over time. Events may be triggered by stress, water, certain foods and exercise. Sleep allows the symptoms in an episode to resolve, however they may return 10-20 minutes after waking. Affected infants have learning disability and abnormal motor development. A significant proportion of individuals will also have focal seizures. The vast majority of individuals (about 80%), have mutations in the ATP1A3 gene.
https://www.epilepsydiagnosis.org/epilepsy-imitators.html#alt-hemiplegia
A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.
lschriml
2012-01-03T02:54:11Z
ICD10CM:I42
ICD10CM:I42.9
ICD10CM:I51.5
ICD9CM:425
ICD9CM:425.9
MESH:D009202
NCI:C34830
NCI:C53654
SNOMEDCT_US_2018_03_01:20072003
SNOMEDCT_US_2018_03_01:57809008
SNOMEDCT_US_2018_03_01:85898001
SNOMEDCT_US_2018_03_01:89461002
SNOMEDCT_US_2018_03_01:89600009
UMLS_CUI:C0033141
UMLS_CUI:C0036529
UMLS_CUI:C0878544
Cardiomyopathies
disease_ontology
DOID:0050700
MESH:D009202 added from NeuroDevNet [WAK].
cardiomyopathy
https://www.epilepsy.com/learn/professionals/co-existing-disorders/cardiac-disorders
true
A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures.
lschriml
2012-05-10T10:02:58Z
DOID:2481
GARD:9255
OMIM:PS308350
ORDO:1934
Ohtahara syndrome (also known as early infantile epileptic encephalopathy, EIEE) is a syndrome characterized by frequent intractable seizures and severe early encephalopathy resulting in limited development and reduced life expectancy. Tonic seizures predominate, myoclonic seizures are uncommon, distinguishing this syndrome from early myoclonic encephalopathy. Treatable metabolic etiologies (especially pyridoxine and pyridoxal-5-phosphate disorders) should be excluded early.
Early Infantile Epileptic Encephalopathy with Burst-Suppression
Ohtahara syndrome
disease_ontology
DOID:0050709
early infantile epileptic encephalopathy
true
true
true
Ohtahara syndrome (also known as early infantile epileptic encephalopathy, EIEE) is a syndrome characterized by frequent intractable seizures and severe early encephalopathy resulting in limited development and reduced life expectancy. Tonic seizures predominate, myoclonic seizures are uncommon, distinguishing this syndrome from early myoclonic encephalopathy. Treatable metabolic etiologies (especially pyridoxine and pyridoxal-5-phosphate disorders) should be excluded early.
https://www.epilepsydiagnosis.org/syndrome/ohtahara-overview.html
An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.
lschriml
2012-07-24T12:51:47Z
disease_ontology
DOID:0050736
autosomal dominant disease
A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.
lschriml
2012-07-24T04:45:53Z
disease_ontology
DOID:0050739
autosomal genetic disease
A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.
lschriml
2012-09-05T11:48:42Z
https://www.ncbi.nlm.nih.gov/pubmed/14594442
EFO:0003829
KEGG:05034
OMIM:103780
SNOMEDCT_US_2018_03_01:66590003
alcoholism
disease_ontology
DOID:0050741
alcohol dependence
true
A substance dependence that is characterized by a physical dependence on nicotine.
lschriml
2012-09-05T11:48:42Z
https://www.ncbi.nlm.nih.gov/pubmed/24441294
EFO:0003768
ICD10CM:F17
ICD10CM:F17.2
ICD10CM:F17.20
MESH:D014029
NCI:C54203
SNOMEDCT_US_2018_03_01:56294008
UMLS_CUI:C0028043
Nicotine use
tobacco use disorder
disease_ontology
DOID:0050742
nicotine dependence
true
A vascular disease that is located_in an artery.
lschriml
2014-02-12T03:08:35Z
disease_ontology
DOID:0050828
artery disease
A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep.
lschriml
2014-03-20T03:57:22Z
ICD10CM:G47.3
ICD10CM:G47.30
ICD9CM:780.57
MESH:D012891
NCI:C26884
SNOMEDCT_US_2018_03_01:73430006
UMLS_CUI:C0037315
disease_ontology
DOID:0050847
sleep apnea
A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.
lschriml
2014-03-20T03:57:22Z
https://www.ncbi.nlm.nih.gov/books/NBK1169/#adnfle.Clinical_Characteristics
ICD10CM:G47.33
ICD9CM:327.23
MESH:D020181
NCI:C116337
NCI:C27168
OMIM:107650
SNOMEDCT_US_2018_03_01:78275009
UMLS_CUI:C0520679
obstructive sleep apnea syndrome
disease_ontology
DOID:0050848
Xref MGI.
obstructive sleep apnea
http://www.case.edu/EpSO.owl#ObstructiveSleepApnea
true
A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements.
lschriml
2015-10-05T14:38:17Z
GARD:6614
disease_ontology
DOID:0050951
hereditary ataxia
An episodic ataxia that is characterized by periodic ataxia and frequent myokymic discharges, and has_material_basis_in autosomal dominant inheritance of mutation in the potassium channel gene KCNA1.
lschriml
2015-10-06T16:26:26Z
OMIM:160120
Episodic ataxia 1 is associated with mutations in a potassium ion channel gene KCNA1. Brief episodes of cerebellar ataxia lasting seconds or minutes are triggered by sudden movements, emotion or intercurrent illness.
disease_ontology
DOID:0050989
episodic ataxia type 1
true
Episodic ataxia 1 is associated with mutations in a potassium ion channel gene KCNA1. Brief episodes of cerebellar ataxia lasting seconds or minutes are triggered by sudden movements, emotion or intercurrent illness.
https://www.epilepsydiagnosis.org/epilepsy-imitators.html#episodic-ataxias
An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has_material_basis_in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A.
lschriml
2015-10-06T16:26:26Z
https://www.ncbi.nlm.nih.gov/pubmed/27025991
OMIM:108500
EA2 is characterised by periods of cerebellar ataxia lasting minutes to hours, which are triggered by physical and emotional stress. Gait and upper limb ataxia may be accompanied by dysarthria, nystagmus, vertigo, nausea and headache. EA2 can be distinguished from seizures by recognition of triggers, family history and retention of awareness during events. EA2 is associated with mutations in the calcium ion channel gene CACNA1A. Variants in this gene are associated with familial hemiplegic migraine and spinocerebellar ataxia type 6 and some phenotypic overlap with these disorders may occur. There may be gaze-evoked nystagmus in between episodes and over time vertical nystagmus may develop.
disease_ontology
DOID:0050990
episodic ataxia type 2
true
true
EA2 is characterised by periods of cerebellar ataxia lasting minutes to hours, which are triggered by physical and emotional stress. Gait and upper limb ataxia may be accompanied by dysarthria, nystagmus, vertigo, nausea and headache. EA2 can be distinguished from seizures by recognition of triggers, family history and retention of awareness during events. EA2 is associated with mutations in the calcium ion channel gene CACNA1A. Variants in this gene are associated with familial hemiplegic migraine and spinocerebellar ataxia type 6 and some phenotypic overlap with these disorders may occur. There may be gaze-evoked nystagmus in between episodes and over time vertical nystagmus may develop.
https://www.epilepsydiagnosis.org/epilepsy-imitators.html#episodic-ataxias
An autoimmune hypersensitivity disease located_in the central nervous system.
disease_ontology
DOID:0060004
autoimmune disease of central nervous system
An autoimmune hypersensitivity disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract.
disease_ontology
DOID:0060031
autoimmune disease of gastrointestinal tract
An autoimmune hypersensitivity disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system.
disease_ontology
DOID:0060032
autoimmune disease of musculoskeletal system
An autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous system.
disease_ontology
DOID:0060033
autoimmune disease of peripheral nervous system
A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause.
https://www.ncbi.nlm.nih.gov/pubmed/31327513
disease_ontology
DOID:0060036
intrinsic cardiomyopathy
true
A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.
disease_ontology
DOID:0060037
developmental disorder of mental health
A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.
disease_ontology
DOID:0060038
specific developmental disorder
An autoimmune hypersensitivity disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue.
disease_ontology
DOID:0060039
autoimmune disease of skin and connective tissue
A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors.
DOID:1208
ICD9CM:299.80
UMLS_CUI:C0154451
pervasive development disorder
disease_ontology
DOID:0060040
pervasive developmental disorder
A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.
https://www.ncbi.nlm.nih.gov/pubmed/30691036
GARD:10248
MESH:D000067877
disease_ontology
DOID:0060041
autism spectrum disorder
http://www.case.edu/EpSO.owl#AutismSpectrumDisorder
true
true
A disease of mental health that involves the impairment in normal sexual functioning.
https://www.ncbi.nlm.nih.gov/pubmed/28775613
disease_ontology
DOID:0060043
sexual disorder
true
A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition.
disease_ontology
DOID:0060047
writing disorder
An immune system disease that has_material_basis_in abnormal immune responses.
disease_ontology
DOID:0060056
hypersensitivity reaction disease
A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize.
lschriml
2011-05-11T12:18:41Z
disease_ontology
DOID:0060072
benign neoplasm
A benign neoplasm that is classified by the type of cell or tissue from which it is derived.
lschriml
2011-07-14T11:59:48Z
disease_ontology
DOID:0060084
cell type benign neoplasm
A benign neoplasm that is classified by the organ system from which it is arising from.
lschriml
2011-07-14T12:12:23Z
disease_ontology
DOID:0060085
organ system benign neoplasm
A central nervous system benign neoplasm that is characterized by lack of malignancy.
lschriml
2011-07-14T01:45:15Z
disease_ontology
DOID:0060090
central nervous system benign neoplasm
An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system.
lschriml
2011-07-14T01:45:15Z
disease_ontology
DOID:0060091
cardiovascular organ benign neoplasm
A brain cancer that has_material_basis_in glial cells.
lschriml
2011-07-22T12:42:50Z
lower grade glioma
disease_ontology
Low Grade Glioma
DOID:0060108
brain glioma
http://www.case.edu/EpSO.owl#LowGradeGlioma
An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system.
lschriml
2011-07-25T12:47:43Z
disease_ontology
DOID:0060115
nervous system benign neoplasm
An agnosia that is a loss of the ability to visually recognize objects.
lschriml
2011-08-22T12:04:56Z
https://www.ncbi.nlm.nih.gov/pubmed/29237192
MESH:C531604
UMLS_CUI:C2930796
disease_ontology
DOID:0060155
visual agnosia
http://www.case.edu/EpSO.owl#VisualAgnosia
true
A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption.
lschriml
2011-08-24T02:53:03Z
disease_ontology
DOID:0060158
acquired metabolic disease
An infancy electroclinical syndrome that is characterized by convulsions, with onset at age 3 to 12 months.
lschriml
2011-10-28T02:55:02Z
https://www.ncbi.nlm.nih.gov/pubmed/12503648
GARD:1518
GARD:857
OMIM:601764
OMIM:605751
OMIM:607745
OMIM:612627
ORDO:306
BFIC
BFIE
Benign familial infantile seizures
benign familial infantile convulsion
benign familial infantile seizures
disease_ontology
DOID:0060169
Xref MGI.
benign familial infantile epilepsy
true
An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures.
lschriml
2011-11-08T10:42:18Z
This genetic/idiopathic generalized epilepsy is characterized by absence seizures that are not very frequent in an otherwise normal adolescent or adult. Generalized tonic-clonic seizures typically also occur. With absence seizures in a child aged between 8 and 12 years, a diagnosis of juvenile absence epilepsy or childhood absence epilepsy depends on the frequency of the absence seizures.
disease_ontology
DOID:0060172
JA:Epilepsy Genetics Kiel
juvenile absence epilepsy
http://www.case.edu/EpSO.owl#JuvenileAbsenceEpilepsy
true
true
This genetic/idiopathic generalized epilepsy is characterized by absence seizures that are not very frequent in an otherwise normal adolescent or adult. Generalized tonic-clonic seizures typically also occur. With absence seizures in a child aged between 8 and 12 years, a diagnosis of juvenile absence epilepsy or childhood absence epilepsy depends on the frequency of the absence seizures.
https://www.epilepsydiagnosis.org/syndrome/jae-overview.html
A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness.
lschriml
2011-11-08T02:54:32Z
GARD:10975
ICD10CM:G43.8
ICD9CM:346.8
ORDO:569
UMLS_CUI:C0477373
Familial hemiplegic migraine is a subtype of migraine with aura in which focal weakness with or without speech disturbance, visual symptoms and paraesthesia develop prior to the onset of headache. Confusion and, in rare severe cases, coma may accompany weakness.
disease_ontology
DOID:0060178
Xref MGI.
familial hemiplegic migraine
true
Familial hemiplegic migraine is a subtype of migraine with aura in which focal weakness with or without speech disturbance, visual symptoms and paraesthesia develop prior to the onset of headache. Confusion and, in rare severe cases, coma may accompany weakness.
https://www.epilepsydiagnosis.org/epilepsy-imitators.html#fam-hemimigraine
A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors.
emitraka
2015-01-28T16:29:51Z
https://www.ncbi.nlm.nih.gov/pubmed/15797356
OMIM:606711
OMIM:606712
OMIM:607134
OMIM:612514
OMIM:615432
language impairment
disease_ontology
DOID:0060244
NT MGI.
specific language impairment
true
An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights.
emitraka
2015-02-04T16:15:55Z
GARD:5648
ICD10CM:G40.8
OMIM:132100
OMIM:609572
OMIM:609573
ORDO:166409
photogenic epilepsy
photoparoxysmal response
disease_ontology
DOID:0060281
NT MGI.
photosensitive epilepsy
https://www.epilepsysociety.org.uk/photosensitive-epilepsy#.Xl9_lqgzbIV
true
A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all.
emitraka
2015-02-25T15:12:30Z
https://www.ncbi.nlm.nih.gov/pubmed/22916156
ICD10CM:I46
ICD9CM:427.5
MESH:D006323
NCI:C50479
NCI:C50483
SNOMEDCT_US_2018_03_01:30298009
UMLS_CUI:C0018790
UMLS_CUI:C0600228
cardiopulmonary arrest
circulatory arrest
disease_ontology
Cardiac asystole
Sudden cardiac arrest
DOID:0060319
cardiac arrest
https://www.epilepsy.com/learn/professionals/co-existing-disorders/cardiac-disorders
true
true
A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes.
emitraka
2015-02-25T17:47:25Z
https://www.ncbi.nlm.nih.gov/pubmed/20430655
ICD10CM:Q05
MESH:D008591
NCI:C101201
NCI:C98874
SNOMEDCT_US_2018_03_01:7096005
SNOMEDCT_US_2018_03_01:82058009
UMLS_CUI:C0025312
UMLS_CUI:C0086664
UMLS_CUI:C0751316
disease_ontology
DOID:0060326
myelomeningocele
true
A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15.
elvira
2015-09-28T16:23:21Z
GARD:10296
ICD10CM:Q93.5
MESH:C567439
OMIM:612001
ORDO:199318
This chromosomal abnormality is associated with intellectual impairment, developmental delay and epilepsy. Seizures of various types may occur, however these are typically generalized (myoclonic, absence and generalized tonic-clonic). Dysmorphic features may include everted lips, deep-set eyes, upslanting palpebral fissures, hypertelorism, synophris, prominent philtrum and hypotonic facies. A CGH microarray is usually the most useful diagnostic test.
15q13.3 microdeletion syndrome
disease_ontology
DOID:0060394
chromosome 15q13.3 microdeletion syndrome
true
This chromosomal abnormality is associated with intellectual impairment, developmental delay and epilepsy. Seizures of various types may occur, however these are typically generalized (myoclonic, absence and generalized tonic-clonic). Dysmorphic features may include everted lips, deep-set eyes, upslanting palpebral fissures, hypertelorism, synophris, prominent philtrum and hypotonic facies. A CGH microarray is usually the most useful diagnostic test.
https://www.epilepsydiagnosis.org/aetiology/chromosomal-abnormalities-overview.html#15q13
elvira
2015-09-28T17:05:53Z
ICD10CM:Q93.5
MESH:C536580
OMIM:601808
ORDO:1600
This chromosomal abnormality is associated with intellectual impairment (moderate-severe), behavioral disorder, epilepsy and dysmorphic features including microcephaly, turricephaly, deep-set-eyes, broad nasal bridge, high arched or cleft palate, carp shaped mouth and small hands and feet. Cardiac defects may occur. Neuroimaging shows abnormal myelination, and may show cerebellar hypoplasia. Seizures are of early onset and seizures with focal autonomic seizures features are common (which may result in cardiac arrhythmia and apnoea). It is notable that this chromosome deletion may include the TCF4 gene, which is mutated in Pitt Hopkins Syndrome.
18q- syndrome
deletion 18q
monosomy 18q
disease_ontology
DOID:0060407
chromosome 18q deletion syndrome
true
This chromosomal abnormality is associated with intellectual impairment (moderate-severe), behavioral disorder, epilepsy and dysmorphic features including microcephaly, turricephaly, deep-set-eyes, broad nasal bridge, high arched or cleft palate, carp shaped mouth and small hands and feet. Cardiac defects may occur. Neuroimaging shows abnormal myelination, and may show cerebellar hypoplasia. Seizures are of early onset and seizures with focal autonomic seizures features are common (which may result in cardiac arrhythmia and apnoea). It is notable that this chromosome deletion may include the TCF4 gene, which is mutated in Pitt Hopkins Syndrome.
https://www.epilepsydiagnosis.org/aetiology/chromosomal-abnormalities-overview.html#18q-
elvira
2015-09-28T17:14:10Z
GARD:6082
MESH:C535362
NCI:C74983
OMIM:607872
ORDO:1606
UMLS_CUI:C1842870
This chromosomal abnormality results in intellectual impairment (moderate to severe), epilepsy and multiple congenital abnormalities. Dysmorphic features include microcephaly, brachycephaly, large and late-closing anterior fontanelle, prominent forehead, straight (horizontal) eyebrows, deep-set eyes, short palpebral fissure, broad nasal bridge, midface hypoplasia, hypotonic facies, low-set abnormal ears, pointed chin and shortened hands and feet. Sensorineural hearing loss, skeletal, urogenital and cardiac defects may occur. Neuroimaging may show a range of structural brain abnormalities. Seizures occur in >50% of cases, typically starting in infancy or childhood with many types of seizures seen, including epileptic spasms, generalized and focal seizures. Seizures may cluster during febrile illness. Some patients may have Ohtahara syndrome. Seizure control is usually not difficult to achieve. Routine karyotype assessment may not allow diagnosis of this syndrome, FISH analysis with sub-telomeric region-specific probes or CGH microarray are usually necessary.
1p36 deletion syndrome
deletion 1p36
monosomy 1p36
disease_ontology
subtelomeric 1p36 deletion
DOID:0060410
chromosome 1p36 deletion syndrome
true
This chromosomal abnormality results in intellectual impairment (moderate to severe), epilepsy and multiple congenital abnormalities. Dysmorphic features include microcephaly, brachycephaly, large and late-closing anterior fontanelle, prominent forehead, straight (horizontal) eyebrows, deep-set eyes, short palpebral fissure, broad nasal bridge, midface hypoplasia, hypotonic facies, low-set abnormal ears, pointed chin and shortened hands and feet. Sensorineural hearing loss, skeletal, urogenital and cardiac defects may occur. Neuroimaging may show a range of structural brain abnormalities. Seizures occur in >50% of cases, typically starting in infancy or childhood with many types of seizures seen, including epileptic spasms, generalized and focal seizures. Seizures may cluster during febrile illness. Some patients may have Ohtahara syndrome. Seizure control is usually not difficult to achieve. Routine karyotype assessment may not allow diagnosis of this syndrome, FISH analysis with sub-telomeric region-specific probes or CGH microarray are usually necessary.
https://www.epilepsydiagnosis.org/aetiology/chromosomal-abnormalities-overview.html#del
A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene.
elvira
2015-11-17T16:22:00Z
ICD10CM:Q93.88
MESH:D054221
NCI:C124852
OMIM:247200
ORDO:531
SNOMEDCT_US_2018_03_01:43849007
UMLS_CUI:C0265219
This clinical syndrome may arise from a microdeletion in chromosome 17p (17p13.3 microdeletion) or from other chromosomal abnormalities (e.g. translocations, ring chromosome, contiguous deletions) affecting 17p. The LIS1 gene is located on 17p and this syndrome includes the presence of classical (type 1) lissencephaly. The children have distinctive facial features with a short upturned nose, thickened upper lip with a thin vermillion upper border, frontal bossing, small jaw, low-set posteriorly rotated ears, sunken appearance in the middle of the face, widely spaced eyes, and hypertelorism. The forehead is prominent with bitemporal hollowing. Most (80%) of cases are sporadic, with 20% of cases inherited from an unaffected parent with a balanced translocation. Renal malformations and omphalocele have also been reported.
MDS
Miller dieker syndrome (del 17p)
Miller-Dieker syndrome
disease_ontology
DOID:0060469
Miller-Dieker lissencephaly syndrome
true
This clinical syndrome may arise from a microdeletion in chromosome 17p (17p13.3 microdeletion) or from other chromosomal abnormalities (e.g. translocations, ring chromosome, contiguous deletions) affecting 17p. The LIS1 gene is located on 17p and this syndrome includes the presence of classical (type 1) lissencephaly. The children have distinctive facial features with a short upturned nose, thickened upper lip with a thin vermillion upper border, frontal bossing, small jaw, low-set posteriorly rotated ears, sunken appearance in the middle of the face, widely spaced eyes, and hypertelorism. The forehead is prominent with bitemporal hollowing. Most (80%) of cases are sporadic, with 20% of cases inherited from an unaffected parent with a balanced translocation. Renal malformations and omphalocele have also been reported.
https://www.epilepsydiagnosis.org/aetiology/chromosomal-abnormalities-overview.html#millerdieker
A hypersensitivity reaction type I disease triggered by a drug.
https://www.ncbi.nlm.nih.gov/pubmed/1831121
disease_ontology
Allergic rash
DOID:0060500
drug allergy
true
A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations.
https://www.ncbi.nlm.nih.gov/books/NBK83677/
GARD:11918
OMIM:PS600513
ORDO:98784
Autosomal dominant nocturnal frontal lobe epilepsy is a familial epilepsy with focal seizures beginning most commonly in childhood, although sporadic cases may occur. Brief nocturnal frontal lobe seizures with hyperkinetic, tonic or dystonic motor features are seen. Treatment with low dose carbamazepine is effective, however 30% of cases are resistant to treatment. Interictal EEG is often normal but may show anterior epileptiform abnormalities, typically in sleep. Mutations have been identified in genes coding for different subunits of the neuronal nicotinic acetylcholine receptors in 15% of familial cases, and in some sporadic cases.
ADNFLE
ENFL
disease_ontology
DOID:0060681
autosomal dominant nocturnal frontal lobe epilepsy
http://www.case.edu/EpSO.owl#AutosomalDominantNocturnalFrontalLobeEpilepsy
true
Autosomal dominant nocturnal frontal lobe epilepsy is a familial epilepsy with focal seizures beginning most commonly in childhood, although sporadic cases may occur. Brief nocturnal frontal lobe seizures with hyperkinetic, tonic or dystonic motor features are seen. Treatment with low dose carbamazepine is effective, however 30% of cases are resistant to treatment. Interictal EEG is often normal but may show anterior epileptiform abnormalities, typically in sleep. Mutations have been identified in genes coding for different subunits of the neuronal nicotinic acetylcholine receptors in 15% of familial cases, and in some sporadic cases.
https://www.epilepsydiagnosis.org/syndrome/adnfle-overview.html
A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function.
DOID:1290
ICD10CM:M89.9
MESH:D001847
SNOMEDCT_US_2018_03_01:76069003
UMLS_CUI:C0005940
disease_ontology
skeletal disease
DOID:0080001
bone disease
A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
disease_ontology
DOID:0080015
physical disorder
https://www.ncbi.nlm.nih.gov/pubmed/20430655
GARD:7673
MESH:D016135
disease_ontology
DOID:0080016
spina bifida
true
lschriml
2015-10-19T14:41:42Z
GARD:4016
OMIM:301410
OMIM:601634
disease_ontology
DOID:0080074
neural tube defect
A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma on chromosome 15q26.
DOID:1442
GARD:5783
ICD10CM:G31.81
MESH:D002549
MTHICD9_2006:330.8
NCI:C35257
OMIM:203700
ORDO:726
SNOMEDCT_US_2018_03_01:20415001
UMLS_CUI:C0205710
Intractable seizures with status epilepticus and epilepsia partialis continua occur, with developmental regression and liver dysfunction. Caused by mutations in POLG.
Alper's syndrome
Alpers disease
Alpers progressive infantile poliodystrophy
Alpers syndrome
Alpers' disease or gray-matter degeneration
Alpers-Huttenlocher syndrome
progressive sclerosing poliodystrophy
disease_ontology
DOID:0080122
mitochondrial DNA depletion syndrome 4a
true
Intractable seizures with status epilepticus and epilepsia partialis continua occur, with developmental regression and liver dysfunction. Caused by mutations in POLG.
https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html#mitochondrial
An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24.
DOID:0060171
GARD:10430
OMIM:607208
ORDO:33069
Dravet syndrome (previously known as severe myoclonic epilepsy of infancy, SMEI), typically presents in the first year of life in a normal child with prolonged, febrile and afebrile, focal (usually hemiclonic) and generalized tonic-clonic seizures. Other seizure types including myoclonic and atypical absence seizures appear between the age of 1 and 4 years. Seizures are usually intractable and from the second year of life children demonstrate cognitive and behaviour impairments. The clinical diagnosis is supported by the presence of abnormalities in the sodium channel gene SCN1A (found in 75% of cases).
early infantile epileptic encephalopathy 6
disease_ontology
DOID:0080422
Dravet syndrome
true
Dravet syndrome (previously known as severe myoclonic epilepsy of infancy, SMEI), typically presents in the first year of life in a normal child with prolonged, febrile and afebrile, focal (usually hemiclonic) and generalized tonic-clonic seizures. Other seizure types including myoclonic and atypical absence seizures appear between the age of 1 and 4 years. Seizures are usually intractable and from the second year of life children demonstrate cognitive and behaviour impairments. The clinical diagnosis is supported by the presence of abnormalities in the sodium channel gene SCN1A (found in 75% of cases).
https://www.epilepsydiagnosis.org/syndrome/dravet-overview.html
A sleep disorder characterized by an extreme evening preference, sleep-onset insomnia, and difficulty in awakening at the desired time.
DSPD
disease_ontology
DOID:0111141
delayed sleep phase syndrome
http://www.case.edu/EpSO.owl#DelayedSleepPhaseSyndrome
A congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex.
MESH:D054221
NCI:C116933
OMIM:600348
ORDO:99796
UMLS_CUI:C1848201
Subcortical band heterotopia is a malformation of cortical development, where there is a band of cortical cells (grey matter) located between the lateral ventricular wall and the cortex. The overlying cortex has a largely normal appearance, but may have mildly shallow sulcation. It occurs due to failure of migration of a population of neuronal cells to their correct location in the cerebral cortex. Subcortical band heterotopia is typically bilateral, symmetric and anterior-predominant.Occasionally subcortical band heterotopia can be bifrontal only, or rarely biparieto-occipital. Subcortical band heterotopia usually occurs in isolation, without other associated structural brain abnormalities, though mild cerebellar hypoplasia can occur with DCX mutations.
HeCo
band heterotopia
double cortex syndrome
heterotopic cortex
subcortical laminar heterotopia
disease_ontology
DOID:0111169
subcortical band heterotopia
true
Subcortical band heterotopia is a malformation of cortical development, where there is a band of cortical cells (grey matter) located between the lateral ventricular wall and the cortex. The overlying cortex has a largely normal appearance, but may have mildly shallow sulcation. It occurs due to failure of migration of a population of neuronal cells to their correct location in the cerebral cortex. Subcortical band heterotopia is typically bilateral, symmetric and anterior-predominant.Occasionally subcortical band heterotopia can be bifrontal only, or rarely biparieto-occipital. Subcortical band heterotopia usually occurs in isolation, without other associated structural brain abnormalities, though mild cerebellar hypoplasia can occur with DCX mutations.
https://www.epilepsydiagnosis.org/aetiology/subcortical-heterotopia-overview.html
An autonomic nervous system disease characterized by onset in the neonatal period or infancy of paroxysms of rectal, ocular, or submandibular pain with flushing that has_material_basis_in heterozygous mutation in SCN9A on chromosome 2q24.3.
GARD:12854
MESH:C563475
OMIM:167400
ORDO:46348
UMLS_CUI:C1833661
Paroxysmal extreme pain disorder is a rare genetic condition associated with mutations in the sodium ion channel gene SCN9A and is characterised by paroxysms of extreme pain. It was previously known as familial rectal pain syndrome.
PEPD
PEXPD
familial rectal pain
submandibular, ocular and rectal pain with flushing
disease_ontology
DOID:0111537
paroxysmal extreme pain disorder
true
Paroxysmal extreme pain disorder is a rare genetic condition associated with mutations in the sodium ion channel gene SCN9A and is characterised by paroxysms of extreme pain. It was previously known as familial rectal pain syndrome.
https://www.epilepsydiagnosis.org/epilepsy-imitators.html#paro-extreme
A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in GNAQ on chromosome 9q21.2.
GARD:7706
MESH:D013341
OMIM:185300
ORDO:3205
SNOMEDCT_US_2018_03_01:19886006
UMLS_CUI:C0038505
Sturge Weber syndrome is characterized by angiomas of the face, eye and leptomeninges. It is caused by an acquired somatic gene abnormality resulting in a gain of function in the GNAQ gene, in progenitor vascular cells.
SWS
Sturge-Weber-Dimitri syndrome
Sturge-Weber-Krabbe angiomatosis
Sturge-Weber-Krabbe syndrome
encephalofacial angiomatosis
encephalotrigeminal angiomatosis
fourth phacomatosis
leptomeningeal angiomatosis
meningeal capillary angiomatosis
disease_ontology
DOID:0111563
Sturge-Weber syndrome
true
Sturge Weber syndrome is characterized by angiomas of the face, eye and leptomeninges. It is caused by an acquired somatic gene abnormality resulting in a gain of function in the GNAQ gene, in progenitor vascular cells.
https://www.epilepsydiagnosis.org/aetiology/sturge-weber-overview.html
A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon.
DOID:10025
https://www.ncbi.nlm.nih.gov/pubmed/26198661
ICD10CM:G43.1
ICD10CM:G43.109
ICD9CM:346.0
MESH:D020325
NCI:C117005
OMIM:609179
OMIM:609670
SNOMEDCT_US_2018_03_01:4473006
UMLS_CUI:C0154723
The visual aura of migraine preceding a headache can take a variety of forms but is typically in one visual field and contains positive phenomena such as flashes, arcs of lights (fortification spectra), specks, or flames and negative phenomena such as scotoma with blanking out or greying of the visual field.
Migraine with visual aura
classic migraine
disease_ontology
DOID:10024
Xref MGI.
migraine with aura
true
true
The visual aura of migraine preceding a headache can take a variety of forms but is typically in one visual field and contains positive phenomena such as flashes, arcs of lights (fortification spectra), specks, or flames and negative phenomena such as scotoma with blanking out or greying of the visual field.
https://www.epilepsydiagnosis.org/epilepsy-imitators.html#migraine-visaura
A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions.
DOID:10078
DOID:14424
GARD:8194
ICD10CM:B69
ICD10CM:B69.9
ICD9CM:123.1
MESH:D003551
MTHICD9_2006:123.0
NCI:C34520
SNOMEDCT_US_2018_03_01:59051007
UMLS_CUI:C0010678
Neurocysticercosis is caused by ingestion of food contaminated with Taenia solium eggs. Eggs hatch in the intestine, larvae migrate to the central nervous system and then form cysts. Cysts have four phases: 1) vesicular (asymptomatic); 2) colloidal (degeneration and inflammation); 3) granular nodular; and 4) calcification. Although seizures are most often associated with cyst degeneration, they can occur at any stage.
Pork tapeworm infection
Tapeworm infection: intestinal taenia solum
Tapeworm infection: pork
intestinal taenia solium infection
neurocysticercosis
tenia solium infectious disease
disease_ontology
DOID:10079
cysticercosis
true
true
Neurocysticercosis is caused by ingestion of food contaminated with Taenia solium eggs. Eggs hatch in the intestine, larvae migrate to the central nervous system and then form cysts. Cysts have four phases: 1) vesicular (asymptomatic); 2) colloidal (degeneration and inflammation); 3) granular nodular; and 4) calcification. Although seizures are most often associated with cyst degeneration, they can occur at any stage.
https://www.epilepsydiagnosis.org/aetiology/infectious-groupoverview.html
A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances.
CSP2005:2214-6161
ICD10CM:B56
ICD10CM:B56.9
ICD9CM:086.5
KEGG:05143
MESH:D014353
NCI:C84541
SNOMEDCT_US_2018_03_01:27031003
SNOMEDCT_US_2018_03_01:78940002
UMLS_CUI:C0041228
African sleeping sickness
African trypanosomiasis
disease_ontology
DOID:10112
sleeping sickness
http://www.case.edu/EpSO.owl#SleepingSickness
A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans.
ICD10CM:B57.2
ICD9CM:086
ICD9CM:086.9
MESH:D014352
SNOMEDCT_US_2018_03_01:78940002
UMLS_CUI:C0041227
disease_ontology
DOID:10113
trypanosomiasis
A cardiovascular system disease that involves the heart's electrical conduction system.
ICD9CM:426.6
UMLS_CUI:C0029630
heart rhythm disease
disease_ontology
DOID:10273
heart conduction disease
A disease by infectious agent that results_in infection, has_material_basis_in Bacteria.
https://www.ncbi.nlm.nih.gov/books/NBK83677/
ICD10CM:A49
ICD10CM:A49.9
MESH:D001424
NCI:C2890
SNOMEDCT_US_2018_03_01:87628006
UMLS_CUI:C0004623
Bacterial Infections
disease_ontology
DOID:104
bacterial infectious disease
true
A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.
https://www.ncbi.nlm.nih.gov/pubmed/28671982
MESH:D008607
NCI:C84392
SNOMEDCT_US_2018_03_01:1855002
SNOMEDCT_US_2018_03_01:91138005
UMLS_CUI:C0025362
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
Mental Retardation
disease_ontology
mental retardation
DOID:1059
OMIM mapping submitted by NeuroDevNet. [LS].
intellectual disability
http://www.case.edu/EpSO.owl#MentalRetardation
https://www.psychiatryadvisor.com/home/topics/neurodevelopmental-disorder/intellectual-disabilities/managing-epilepsy-in-patients-with-intellectual-disability/
true
true
An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.
https://www.ncbi.nlm.nih.gov/pubmed/30562654
CSP2005:1248-3893
EFO:0001060
GARD:11998
ICD10CM:K90.0
ICD9CM:579.0
MESH:D002446
MTHICD9_2006:579.0
NCI:C26714
OMIM:607202
OMIM:609754
OMIM:611598
OMIM:612005
OMIM:612006
OMIM:612007
OMIM:612008
OMIM:612009
OMIM:612011
ORDO:555
SNOMEDCT_US_2018_03_01:23829007
UMLS_CUI:C0007570
celiac sprue
coeliac disease
idiopathic steatorrhea
disease_ontology
DOID:10608
Xref MGI.
OMIM mapping confirmed by DO. [SN].
celiac disease
true
true
A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.
https://www.ncbi.nlm.nih.gov/pubmed/29213881
CSP2005:0485-6737
EFO:0000249
GARD:10254
ICD10CM:G30
ICD10CM:G30.9
ICD9CM:331.0
KEGG:05010
MESH:D000544
NCI:C2866
SNOMEDCT_US_2018_03_01:26929004
SNOMEDCT_US_2018_03_01:73768007
UMLS_CUI:C0002395
Alzheimer disease
Alzheimers dementia
disease_ontology
DOID:10652
Xref MGI.
OMIM mapping confirmed by DO. [SN].
Alzheimer's disease
true
true
A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.
https://www.ncbi.nlm.nih.gov/pubmed/11864518
ICD10CM:N19
ICD9CM:586
MESH:D051437
NCI:C4376
SNOMEDCT_US_2018_03_01:42399005
UMLS_CUI:C0035078
renal failure
disease_ontology
DOID:1074
PRISM.
kidney failure
true
An artery disease characterized by chronic elevated blood pressure in the arteries.
https://www.ncbi.nlm.nih.gov/pubmed/31055731
CSP2005:0571-5243
CSP2005:4003-0017
EFO:0000537
ICD10CM:I10
ICD9CM:401-405.99
ICD9CM:997.91
MESH:D006973
NCI2004_11_17:C3117
NCI:C3117
SNOMEDCT_US_2018_03_01:38341003
UMLS_CUI:C0020538
HTN
High blood pressure
hyperpiesia
vascular hypertensive disorder
disease_ontology
hypertensive disease
DOID:10763
hypertension
true
true
https://www.ncbi.nlm.nih.gov/pubmed/11104349
CSP2005:0723-5649
GARD:3603
GARD:7038
ICD10CM:Q02
ICD9CM:742.1
ICD9CM_2006:742.1
MESH:D008831
NCI:C85874
SNOMEDCT_US_2018_03_01:1829003
UMLS_CUI:C0025958
Microcephaly is a birth defect where a baby’s head is smaller than expected when compared to babies of the same sex and age. Babies with microcephaly often have smaller brains that might not have developed properly.
Microcephalus
microencephaly
disease_ontology
DOID:10907
OMIM mapping confirmed by DO. [SN].
microcephaly
http://www.case.edu/EpSO.owl#Microcephaly
true
Microcephaly is a birth defect where a baby’s head is smaller than expected when compared to babies of the same sex and age. Babies with microcephaly often have smaller brains that might not have developed properly.
https://www.cdc.gov/ncbddd/birthdefects/microcephaly.html
A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information.
DOID:4544
ICD10CM:R41.3
ICD9CM:294.0
MESH:D000647
MTHICD9_2006:294.0
NCI2004_11_17:C35764
NCI:C2867
SNOMEDCT_US_2018_03_01:3298001
SNOMEDCT_US_2018_03_01:48167000
SNOMEDCT_US_2018_03_01:78461004
UMLS_CUI:C0002622
UMLS_CUI:C0002625
Amnestic syndrome
Korsakoff's psychosis or syndrome
amnesia
disease_ontology
DOID:10914
amnestic disorder
true
An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions).
ICD10CM:F42
ICD10CM:F42.8
ICD10CM:F42.9
ICD9CM:300.3
MESH:D009771
MTHICD9_2006:300.3
NCI:C88411
SNOMEDCT_US_2018_03_01:71478004
UMLS_CUI:C0028768
Anancastic neurosis
obsessive compulsive disorder
disease_ontology
DOID:10933
obsessive-compulsive disorder
true
A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities.
https://www.ncbi.nlm.nih.gov/pubmed/2912820
ICD10CM:F44.81
ICD9CM:300.14
ICD9CM_2006:300.14
MESH:D009105
NCI:C94330
SNOMEDCT_US_2018_03_01:31611000
UMLS_CUI:C0026773
Dissociative identity disorder
disease_ontology
DOID:10934
multiple personality disorder
true
A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated).
DOID:4963
CSP2005:2483-7018
ICD10CM:F44.9
ICD10CM:F48.9
ICD9CM:300.15
ICD9CM:300.9
MESH:D004213
NCI:C92197
SNOMEDCT_US_2018_03_01:44376007
UMLS_CUI:C0012746
UMLS_CUI:C0041857
Dissociation is a psychological state that may vary in severity from mild detachment from immediate surroundings to more severe detachment and apparent unresponsiveness. In mild cases, dissociation can be regarded as a coping mechanism in seeking to minimize or tolerate stress, conflict or boredom. If a coping response to stress, the dissociative state may be preceded by a phase where anxiety symptoms (e.g. hyperventilation) are apparent. More severe dissociative states are seen in dissociative disorders and may include depersonalization and amnesia. Dissociative disorders are sometimes triggered by traumatic experience, but may be preceded by only minor stress or there may be no apparent trigger.
dissociative disease
dissociative reaction
dissociative state
disease_ontology
DOID:10935
dissociative disorder
true
Dissociation is a psychological state that may vary in severity from mild detachment from immediate surroundings to more severe detachment and apparent unresponsiveness. In mild cases, dissociation can be regarded as a coping mechanism in seeking to minimize or tolerate stress, conflict or boredom. If a coping response to stress, the dissociative state may be preceded by a phase where anxiety symptoms (e.g. hyperventilation) are apparent. More severe dissociative states are seen in dissociative disorders and may include depersonalization and amnesia. Dissociative disorders are sometimes triggered by traumatic experience, but may be preceded by only minor stress or there may be no apparent trigger.
https://www.epilepsydiagnosis.org/epilepsy-imitators.html#dissociative
A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.
DOID:1093
https://www.ncbi.nlm.nih.gov/pubmed/28749241
EFO:0003888
MESH:D001289
NCI:C35092
OMIM:143465
OMIM:608903
OMIM:608904
OMIM:608905
OMIM:608906
OMIM:612311
OMIM:612312
UMLS_CUI:C0041671
ADHD
attention deficit disorder
hyperkinetic disorder
disease_ontology
DOID:1094
Xref MGI.
attention deficit hyperactivity disorder
true
true
A central nervous system disease that is characterized by the complete paralysis of half of the body.
https://www.ncbi.nlm.nih.gov/pubmed/28043687
GARD:6583
ICD9CM:343.4
MESH:D006429
MTHICD9_2006:343.4
SNOMEDCT_US_2018_03_01:1593000
UMLS_CUI:C0392550
Infantile hemiplegia
Postnatal infantile hemiplegia
disease_ontology
DOID:10969
hemiplegia
true
A dissociative disorder in which the sufferer is affected by persistent or recurrent feelings of depersonalization and/or derealization.
https://www.ncbi.nlm.nih.gov/pubmed/31437864
GARD:6260
ICD9CM:300.6
MESH:D003861
MTHICD9_2006:300.6
NCI:C94331
SNOMEDCT_US_2018_03_01:70764005
UMLS_CUI:C0683416
Depersonalization
Neurotic derealization
disease_ontology
DOID:11038
depersonalization disorder
true
true
A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood.
GARD:6733
ICD10CM:E20
ICD10CM:E20.9
ICD9CM:252.1
MESH:D007011
NCI:C78350
OMIM:146200
OMIM:307700
ORDO:2238
SNOMEDCT_US_2018_03_01:36976004
UMLS_CUI:C0020626
disease_ontology
DOID:11199
Xref MGI.
hypoparathyroidism
https://www.epilepsy.com/learn/professionals/co-existing-disorders/metabolic-disorders/hypoparathyroidism
true
An endocrine system disease that is located_in the parathyroid gland.
ICD10CM:E21.5
ICD9CM:252
ICD9CM:252.9
MESH:D010279
NCI:C26844
SNOMEDCT_US_2018_03_01:73132005
UMLS_CUI:C0030517
disease of parathyroid glands
disease_ontology
DOID:11201
parathyroid gland disease
A phobic disorder that involves social anxiety occurring only in specific public or social situations, interactions with others or being evaluated or scrutinized by other people.
https://www.ncbi.nlm.nih.gov/pubmed/28360564
ICD10CM:F40.1
ICD10CM:F40.10
ICD9CM:300.23
MESH:D000072861
NCI:C34927
SNOMEDCT_US_2018_03_01:25501002
UMLS_CUI:C0031572
disease_ontology
DOID:11257
social phobia
true
A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system.
ICD10CM:I77.0
NCI2004_11_17:C4297
NCI:C2882
SNOMEDCT_US_2018_03_01:11071001
SNOMEDCT_US_2018_03_01:14156004
UMLS_CUI:C0334533
Arteriovenous malformations are abnormal blood vessels that shunt blood directly from the arterial to the venous circulation.There is a risk of intracranial hemorrhage, estimated at 2-4% per year, which can be limited or catastrophic. Management is therefore directed at reducing mortality and morbidity (neurological and cognitive impairment) from hemorrhage.
Arteriovenous hemangioma
Cirsoid aneurysm
Racemose Angioma
Racemose aneurysm
Racemose hemangioma
disease_ontology
DOID:11294
arteriovenous malformation
true
Arteriovenous malformations are abnormal blood vessels that shunt blood directly from the arterial to the venous circulation.There is a risk of intracranial hemorrhage, estimated at 2-4% per year, which can be limited or catastrophic. Management is therefore directed at reducing mortality and morbidity (neurological and cognitive impairment) from hemorrhage.
https://www.epilepsydiagnosis.org/aetiology/arteriovenous-malformation-overview.html
A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.
CSP2005:2024-3715
GARD:7607
ICD10CM:D80-D89
ICD10CM:D86
ICD10CM:D86.9
ICD9CM:135
MESH:D012507
NCI:C34995
ORDO:797
SNOMEDCT_US_2018_03_01:31541009
UMLS_CUI:C0036202
Boeck sarcoid
lymphogranulomatosis
disease_ontology
DOID:11335
sarcoidosis
https://www.epilepsy.com/learn/professionals/co-existing-disorders/inflammatory-disorders
true
A cardiovascular system disease that involves the heart.
ICD10CM:I51.9
ICD9CM:429.9
MESH:D006331
NCI:C3079
SNOMEDCT_US_2018_03_01:56265001
UMLS_CUI:C0018799
Cardiac Disorders
disease_ontology
DOID:114
heart disease
https://www.epilepsy.com/learn/professionals/co-existing-disorders/cardiac-disorders
true
ICD9CM:337.1
UMLS_CUI:C0154691
autonomic nervous system disorder
disease_ontology
DOID:11465
autonomic nervous system disease
A lower respiratory tract disease that affects the airways leading into the lungs, which is caused due to inflammation of the bronchi and bronchioles, infection, or blockage.
DOID:1175
DOID:12322
MESH:D001982
SNOMEDCT_US_2018_03_01:41427001
UMLS_CUI:C0006261
Bronchospasm
disease_ontology
DOID:1176
bronchial disease
An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods.
allergic disease
ICD10CM:T78.40
MESH:D006967
NCI:C3114
SNOMEDCT_US_2018_03_01:21957007
SNOMEDCT_US_2018_03_01:91232002
UMLS_CUI:C0020517
allergic disease
hypersensitivity
hypersensitivity reaction type I disease
disease_ontology
DOID:1205
allergic hypersensitivity disease
An autoimmune hypersensitivity disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels.
GARD:7880
ICD10CM:M31.3
ICD10CM:M31.30
ICD9CM:446.4
MESH:D014890
MTHICD9_2006:446.4
NCI:C3444
OMIM:608710
SNOMEDCT_US_2018_03_01:23782005
UMLS_CUI:C3495801
Necrotizing respiratory granulomatosis
Wegener granulomatosis, formerly
disease_ontology
DOID:12132
granulomatosis with polyangiitis
https://www.epilepsy.com/learn/professionals/challenging-cases/granulomatosis-polyangiitis
true
A learning disability involving a math disability can cause such difficulties as learning math concepts (such as quantity, place value, and time), difficulty memorizing math facts, difficulty organizing numbers, and understanding how problems are organized on the page.
MESH:D060705
Mathematics disorder
disorder of arithmetical skills
disease_ontology
DOID:12568
dyscalculia
https://www.epilepsydiagnosis.org/seizure/cognitive-overview.html
true
A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.
DOID:73
ICD9CM:429.2
MESH:D002318
NCI:C2931
SNOMEDCT_US_2018_03_01:49601007
UMLS_CUI:C0007222
disease of subdivision of hemolymphoid system
disease_ontology
DOID:1287
cardiovascular system disease
A central nervous system disease that results in the progressive deterioration of function or structure of neurons.
DOID:4874
ICD10CM:G31.9
MESH:D019636
NCI2004_11_17:C4802
NCI:C27090
UMLS_CUI:C0524851
UMLS_CUI:C1285162
Neurodegenerative disease
degenerative disease
disease_ontology
DOID:1289
neurodegenerative disease
An autoimmune hypersensitivity disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.
DOID:416
CSP2005:0729-8405
GARD:10252
ICD10CM:M35.0
ICD10CM:M35.00
ICD9CM:710.2
MESH:D012859
NCI:C26883
NCI:C70647
OMIM:270150
SNOMEDCT_US_2018_03_01:83901003
UMLS_CUI:C0086981
UMLS_CUI:C1527336
Sicca syndrome
Sjogren syndrome
xerodermosteosis
disease_ontology
DOID:12894
OMIM mapping confirmed by DO. [LS].
Sjogren's syndrome
https://www.epilepsy.com/learn/professionals/co-existing-disorders/inflammatory-disorders
true
An amnestic disorder that is characterized by temporary but almost total disruption of short-term memory with a range of problems accessing older memories.
https://www.ncbi.nlm.nih.gov/pubmed/3579680
GARD:8172
ICD10CM:G45.4
ICD9CM:437.7
MESH:D020236
NCI:C85198
UMLS_CUI:C0338591
disease_ontology
DOID:13027
transient global amnesia
true
A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior.
https://www.ncbi.nlm.nih.gov/pubmed/20161538
ICD9CM:290.8
MESH:D003704
UMLS_CUI:C0154319
disease_ontology
DOID:1307
dementia
true
A cystitis characterized by a sudden onset or severe symptoms.
https://www.ncbi.nlm.nih.gov/pubmed/30279715
ICD10CM:N30.0
ICD9CM:595.0
NCI:C26934
SNOMEDCT_US_2018_03_01:68226007
UMLS_CUI:C0149523
urinary tract infection
disease_ontology
DOID:13148
acute cystitis
true
A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain.
DOID:2125
DOID:2126
DOID:3543
DOID:6649
DOID:911
https://www.ncbi.nlm.nih.gov/pubmed/32034533
CSP2005:2006-2736
ICD10CM:C71
ICD10CM:C71.9
ICD9CM:191
ICD9CM:191.9
ICD9CM:239.6
MESH:D001932
NCI2004_11_17:C2907
NCI2004_11_17:C3568
NCI2004_11_17:C4952
NCI2004_11_17:C4954
NCI2004_11_17:C5115
NCI2004_11_17:C7710
NCI:C2907
NCI:C3568
NCI:C4952
NCI:C4954
NCI:C5115
NCI:C7710
SNOMEDCT_US_2018_03_01:93727008
UMLS_CUI:C0006118
UMLS_CUI:C0153633
UMLS_CUI:C0220624
UMLS_CUI:C0750974
UMLS_CUI:C0750979
UMLS_CUI:C1334557
BT - Brain tumour
adult brain tumor
adult malignant brain neoplasm
brain neoplasm
brain neoplasm, adult
malignant brain tumour
malignant primary brain neoplasm
malignant primary brain tumor
malignant tumor of Brain
malignant tumor of adult brain
neoplasm of brain
primary brain neoplasm
primary brain tumor
primary malignant neoplasm of brain
tumor of the Brain
disease_ontology
DOID:1319
brain cancer
true
An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins.
GARD:10353
ICD10CM:E80.20
ICD9CM:277.1
ICD9CM_2006:277.1
MESH:D011164
MTHICD9_2006:277.1
NCI:C97096
SNOMEDCT_US_2018_03_01:29094004
SNOMEDCT_US_2018_03_01:86292002
UMLS_CUI:C0032708
Hematoporphyria
Porphyrinopathy
disorder of porphyrin and hem metabolism
disorder of porphyrin metabolism
disease_ontology
DOID:13268
porphyria
A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.
DOID:9996
https://www.ncbi.nlm.nih.gov/pubmed/27531853
ICD10CM:E16.9
MESH:D046768
NCI:C4375
SNOMEDCT_US_2018_03_01:42681006
SNOMEDCT_US_2018_03_01:66149005
UMLS_CUI:C0027773
Islet cell hyperplasia
nesidioblastosis
persistent hyperinsulinemia hypoglycemia of infancy
disease_ontology
DOID:13317
OMIM mapping confirmed by DO. [SN].
hyperinsulinemic hypoglycemia
true
A learning disability involing difficulty reading resulting primarily from neurological factors which affect any part of the reading process.
ICD9CM:315.09
UMLS_CUI:C0154631
disease_ontology
DOID:13365
reading disorder
A syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body.
CSP2005:0727-2535
GARD:7830
ICD10CM:Q85.1
ICD9CM:759.5
MESH:D014402
MTHICD9_2006:759.5
NCI2004_11_17:C3424
NCI:C3424
OMIM:PS191100
SNOMEDCT_US_2018_03_01:7199000
UMLS_CUI:C0041341
Tuberous sclerosis, a genetic disorder, is a common cause of malformations of cortical development, with a birth incidence of 1:6000 births. It is a disorder caused by a defect in the mTOR pathway, an intracellular pathway that regulates cell growth and differentiation, resulting in abnormalities in a number of organs, including the brain, skin, heart, kidneys and eyes.
Bourneville's disease
Epiloia
Tuberose sclerosis
Tuberous sclerosis syndrome
cerebral sclerosis
disease_ontology
DOID:13515
OMIM mapping confirmed by DO. [LS].
tuberous sclerosis
true
Tuberous sclerosis, a genetic disorder, is a common cause of malformations of cortical development, with a birth incidence of 1:6000 births. It is a disorder caused by a defect in the mTOR pathway, an intracellular pathway that regulates cell growth and differentiation, resulting in abnormalities in a number of organs, including the brain, skin, heart, kidneys and eyes.
https://www.epilepsydiagnosis.org/aetiology/tuberous-sclerosis-overview.html
A malaria that involves neurologic damage resulting from blockage of the blood vessels, caused due to the infection of the red blood cells by Plasmodium species.
https://www.ncbi.nlm.nih.gov/books/NBK83677/
ICD10CM:B50.0
MESH:D016779
NCI:C128373
SNOMEDCT_US_2018_03_01:53622003
UMLS_CUI:C0024534
Plasmodium falciparum in sub-Saharan Africa can cause neurologic complications in half of affected individuals. This infection is the most important cause of epileptic seizures in these regions. Cerebral malaria with related coma may be fatal, especially in children. Plasmodium vivax in Asia causes similar neurological complications and epilepsy.
Malarial encephalitis
disease_ontology
DOID:14069
cerebral malaria
true
true
Plasmodium falciparum in sub-Saharan Africa can cause neurologic complications in half of affected individuals. This infection is the most important cause of epileptic seizures in these regions. Cerebral malaria with related coma may be fatal, especially in children. Plasmodium vivax in Asia causes similar neurological complications and epilepsy.
https://www.epilepsydiagnosis.org/aetiology/infectious-groupoverview.html
A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.
CSP2005:1254-8068
GARD:10247
ICD10CM:Q90
ICD10CM:Q90.9
ICD9CM:758.0
MESH:D004314
MTHICD9_2006:758.0
NCI2004_11_17:C2993
NCI:C2993
OMIM:190685
ORDO:870
SNOMEDCT_US_2018_03_01:41040004
UMLS_CUI:C0013080
Down syndrome is a common chromosomal disorder with well-recognized dysmorphic features, epilepsy occurs in approximately 10% of individuals and age of seizure onset is bimodal with 40% having seizures before 1 year of age (commonly epileptic spasms) and 40% having seizures from the third decade of life. All major seizure types have been described in children with Down syndrome including focal seizures, epileptic spasms, myoclonic and generalized tonic-clonic seizures. Phenotypes seen may also include reflex (startle-induced) seizures. Co-existing acquired structural brain abnormalities may occur, as a consequence of congenital cardiac disease.
Complete trisomy 21 syndrome
Down's syndrome
Down's syndrome - trisomy 21
Downs syndrome
G Trisomy
trisomy 21 syndrome
disease_ontology
DOID:14250
OMIM mapping confirmed by DO. [SN].
Down syndrome
true
true
Down syndrome is a common chromosomal disorder with well-recognized dysmorphic features, epilepsy occurs in approximately 10% of individuals and age of seizure onset is bimodal with 40% having seizures before 1 year of age (commonly epileptic spasms) and 40% having seizures from the third decade of life. All major seizure types have been described in children with Down syndrome including focal seizures, epileptic spasms, myoclonic and generalized tonic-clonic seizures. Phenotypes seen may also include reflex (startle-induced) seizures. Co-existing acquired structural brain abnormalities may occur, as a consequence of congenital cardiac disease.
https://www.epilepsydiagnosis.org/aetiology/chromosomal-abnormalities-overview.html#trisomy21
https://www.ncbi.nlm.nih.gov/pubmed/25387857
https://www.ncbi.nlm.nih.gov/pubmed/27629553
CSP2005:1849-6833
GARD:10739
ICD10CM:E75.4
MESH:D009472
NCI:C61257
OMIM:PS256730
ORDO:216
ORDO:79262
SNOMEDCT_US_2018_03_01:42012007
UMLS_CUI:C0027877
hereditary ceroid lipofuscinosis
disease_ontology
DOID:14503
Xref MGI.
OMIM mapping submitted by NeuroDevNet. [LS].
neuronal ceroid lipofuscinosis
true
A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells.
DOID:0050442
DOID:0050443
DOID:14770
GARD:13334
ICD10CM:E75.24
ICD10CM:E75.249
MESH:D009542
NCI:C61269
SNOMEDCT_US_2018_03_01:58459009
UMLS_CUI:C0028064
Sphingomyelinase Deficiency Disease
lipoid histiocytosis
sphingomyelin lipidosis
disease_ontology
DOID:14504
OMIM mapping confirmed by DO. [SN].
Niemann-Pick disease
https://www.epilepsy.com/learn/professionals/co-existing-disorders/metabolic-disorders/inborn-errors/niemann-pick-disease
true
A disease that is characterized by abnormally rapid cell division.
DOID:0000818
cell process disease
neoplasm
disease_ontology
DOID:14566
disease of cellular proliferation
A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture.
ICD10CM:F99
ICD10CM:F99-F99
MESH:D001523
NCI:C2893
SNOMEDCT_US_2018_03_01:74732009
UMLS_CUI:C0004936
disease_ontology
DOID:150
disease of mental health
A disease of mental health that involve long-term patterns of thoughts and behaviors that cause serious problems with relationships and work.
ICD9CM:301.8
ICD9CM:301.89
UMLS_CUI:C0029707
character disorder
disease_ontology
DOID:1510
personality disorder
A disease of mental health that affects cognitive functions including memory processing, perception and problem solving.
https://www.ncbi.nlm.nih.gov/pubmed/20161538
ICD10CM:F09
MESH:D019965
NCI2004_11_17:C34870
NCI:C34870
UMLS_CUI:C0029227
cognitive disease
disease_ontology
Organic Mental disorder
DOID:1561
cognitive disorder
true
A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body.
https://www.ncbi.nlm.nih.gov/pubmed/26423537
ICD10CM:B35-B49
ICD10CM:B49
ICD9CM:110-118.99
MESH:D009181
NCI:C3245
SNOMEDCT_US_2018_03_01:3218000
UMLS_CUI:C0026946
mycosis
disease_ontology
mycoses
DOID:1564
fungal infectious disease
true
A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.
ICD10CM:F10.1
ICD9CM:305.0
ICD9CM:305.00
MESH:D000437
NCI:C20701
SNOMEDCT_US_2018_03_01:15167005
UMLS_CUI:C0085762
Alcohol Abuse
Ethanol abuse
alcohol abuse
disease_ontology
DOID:1574
alcohol use disorder
http://www.case.edu/EpSO.owl#AlcoholAbuse
true
An autoimmune hypersensitivity disease that involves inflammation or pain in the muscles, joints, or fibrous tissue.
disease_ontology
DOID:1575
rheumatic disease
A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm.
DOID:3226
https://www.ncbi.nlm.nih.gov/pubmed/20161538
ICD10CM:J96-J99
ICD10CM:J98
ICD9CM:510-519.99
ICD9CM:519
UMLS_CUI:C0029582
disease_ontology
DOID:1579
respiratory system disease
true
A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages.
disease_ontology
DOID:16
integumentary system disease
A bladder disease that is characterized by inflammation of the bladder.
ICD10CM:N30
ICD10CM:N30.9
ICD9CM:595
ICD9CM:595.9
MESH:D003556
NCI:C26738
SNOMEDCT_US_2018_03_01:38822007
UMLS_CUI:C0010692
disease_ontology
DOID:1679
cystitis
CSP2005:0724-8315
ICD10CM:Q24.9
ICD9CM:746.9
MESH:D006330
NCI2004_11_17:C34666
NCI:C34666
SNOMEDCT_US_2018_03_01:13213009
UMLS_CUI:C0018798
Congenital heart defects, or diseases, are problems with the heart’s structure that are present at birth. They may change the normal flow of blood through the heart. Congenital heart defects are the most common type of birth defect.
Congenital Heart Defects
Congenital anomaly of heart
Heart Malformation
congenital heart defect
heart defect
disease_ontology
Heart-congenital defect
DOID:1682
OMIM mapping confirmed by DO. [SN].
congenital heart disease
https://www.epilepsy.com/learn/professionals/co-existing-disorders/cardiac-disorders/congenital-heart-disease
true
Congenital heart defects, or diseases, are problems with the heart’s structure that are present at birth. They may change the normal flow of blood through the heart. Congenital heart defects are the most common type of birth defect.
https://www.nhlbi.nih.gov/health-topics/congenital-heart-defects
A disease of anatomical entity that occurs in the muscular and/or skeletal system.
https://www.ncbi.nlm.nih.gov/pubmed/20161538
MESH:D009140
NCI:C107377
SNOMEDCT_US_2018_03_01:928000
UMLS_CUI:C0026857
disease_ontology
DOID:17
musculoskeletal system disease
true
A disease of mental health where symptoms are deliberately produced, feigned or exaggerated in order to falsely demonstrate the presence of an illness.
ICD10CM:F68.11
ICD9CM:300.16
SNOMEDCT_US_2018_03_01:31122002
UMLS_CUI:C0015481
Fabricated / factitious illness may be presented as epilepsy and may be misdiagnosed as such because of the reliance on truthful accounts of witnesses to make a clinical diagnosis of epilepsy. If the witness is making up a story this may not be easily apparent to the clinician. There may be complex psychological, psychosocial and family reasons behind this illness behaviour or it may simply be because the diagnosis of epilepsy may lead to financial benefits. The illness behaviour may be on the part of an adult who presents themselves as having seizures or a carer who presents their child as affected. Factitious illness may be suspected if there are aspects of the clinical history that seem inconsistent with an epilepsy diagnosis, if the seizures have only been witnessed by one individual, if frequent seizures are accompanied by normal EEG (including prolonged studies) and if seizures remain refractory on history to medication however there is no evidence of behavioural or cognitive comorbidity in the child.
Fabricated / factitious illness
Munchausen syndrome
disease_ontology
Factitious seizures
Fictitious epilepsy
DOID:1766
factitious disorder
https://www.epilepsydiagnosis.org/epilepsy-imitators.html#fabricated
https://www.epilepsysociety.org.uk/non-epileptic-seizures#.XJhlBXduLIV
true
Fabricated / factitious illness may be presented as epilepsy and may be misdiagnosed as such because of the reliance on truthful accounts of witnesses to make a clinical diagnosis of epilepsy. If the witness is making up a story this may not be easily apparent to the clinician. There may be complex psychological, psychosocial and family reasons behind this illness behaviour or it may simply be because the diagnosis of epilepsy may lead to financial benefits. The illness behaviour may be on the part of an adult who presents themselves as having seizures or a carer who presents their child as affected. Factitious illness may be suspected if there are aspects of the clinical history that seem inconsistent with an epilepsy diagnosis, if the seizures have only been witnessed by one individual, if frequent seizures are accompanied by normal EEG (including prolonged studies) and if seizures remain refractory on history to medication however there is no evidence of behavioural or cognitive comorbidity in the child.
https://www.epilepsydiagnosis.org/epilepsy-imitators.html#fabricated
A somatoform disorder that involves numbness, blindness, paralysis or fits without a neurological cause.
https://www.ncbi.nlm.nih.gov/books/NBK2609/
GARD:6191
ICD10CM:F44
ICD9CM:300.11
MESH:D003291
MTHICD9_2006:300.11
SNOMEDCT_US_2018_03_01:20734000
SNOMEDCT_US_2018_03_01:44376007
SNOMEDCT_US_2018_03_01:89239005
UMLS_CUI:C0009946
Conversion Hysterical Neurosis
Conversion hysteria or reaction
Hysterical neurosis, conversion type
disease_ontology
DOID:1768
conversion disorder
true
A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart.
DOID:0000405
DOID:2403
DOID:2869
DOID:324
DOID:325
DOID:45
ICD10CM:I72.9
ICD9CM:442.9
MESH:D000783
MESH:D014652
MESH:D020758
MESH:D020760
NCI:C26693
NCI:C35117
SNOMEDCT_US_2018_03_01:27550009
SNOMEDCT_US_2018_03_01:85659009
UMLS_CUI:C0002940
UMLS_CUI:C0042373
UMLS_CUI:C0752127
UMLS_CUI:C0752130
vascular tissue disease
disease_ontology
DOID:178
vascular disease
A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra.
DOID:579
NCI2004_11_17:C27599
NCI:C27599
UMLS_CUI:C1335051
Non-neoplastic urinary tract disease
urinary tract disease
disease_ontology
DOID:18
urinary system disease
A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years.
CSP2005:0485-7316
MESH:D004832
NCI:C3023
SNOMEDCT_US_2018_03_01:16757004
SNOMEDCT_US_2018_03_01:79631006
UMLS_CUI:C0014553
Childhood absence epilepsy is a genetic/idiopathic generalized epilepsy that should be considered in an otherwise normal child with multiple daily absence seizures associated with 2.5 - 3.5 Hz generalized spike-and-wave. Absence seizures are provoked by hyperventilation. Between 8 and 12 years of age the distinction between the clinical syndromes of juvenile absence epilepsy and childhood absence epilepsy depends on the frequency of absence seizures.
petit mal seizure
pyknolepsy
disease_ontology
absence seizure
DOID:1825
childhood absence epilepsy
http://www.case.edu/EpSO.owl#ChildhoodAbsenceEpilepsy
true
true
true
Childhood absence epilepsy is a genetic/idiopathic generalized epilepsy that should be considered in an otherwise normal child with multiple daily absence seizures associated with 2.5 - 3.5 Hz generalized spike-and-wave. Absence seizures are provoked by hyperventilation. Between 8 and 12 years of age the distinction between the clinical syndromes of juvenile absence epilepsy and childhood absence epilepsy depends on the frequency of absence seizures.
https://www.epilepsydiagnosis.org/syndrome/cae-overview.html
A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.
EFO:0000474
ICD10CM:G40.9
ICD10CM:G40.909
ICD9CM:345.9
MESH:D004827
NCI:C3020
SNOMEDCT_US_2018_03_01:84757009
UMLS_CUI:C0014544
epilepsy syndrome
epileptic syndrome
disease_ontology
DOID:1826
epilepsy
http://www.case.edu/EpSO.owl#Epilepsy
An epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain.
https://www.ncbi.nlm.nih.gov/books/NBK546611/
MESH:D004829
NCI:C3021
OMIM:600669
SNOMEDCT_US_2018_03_01:19598007
UMLS_CUI:C0014548
Generalised epilepsy
disease_ontology
DOID:1827
Xref MGI.
idiopathic generalized epilepsy
https://www.epilepsy.com/learn/professionals/about-epilepsy-seizures/idiopathic-generalized-epilepsies
true
true
A cranial nerve disease that is located_in the optic nerve.
CSP2005:2042-6601
MESH:D009901
NCI:C79698
SNOMEDCT_US_2018_03_01:77157004
UMLS_CUI:C0029132
disorder of the second nerve
optic nerve disorder
optic neuropathy
disease_ontology
DOID:1891
optic nerve disease
CSP2005:1254-8437
GARD:8705
ICD10CM:Q98.0
ICD10CM:Q98.4
ICD9CM:758.7
MESH:D007713
MTHICD9_2006:758.7
NCI2004_11_17:C34752
NCI:C34752
SNOMEDCT_US_2018_03_01:22053006
UMLS_CUI:C0022735
Klinefelter's syndrome is a common sex chromosomal abnormality and the most common cause of male hypogonadism. This syndrome is characterized by cognitive and behavioral dysfunction and hypogonadism. Seizures usually start between 3 months and 3 years of age and are typically well controlled with anti-seizure medication. Variable electroclinical characteristics may be seen from patient to patient, however generalized seizures (absence, tonic-clonic) are common seizure types. This disorder is diagnosed on routine karyotype examination.
Hypogonadotropic Hypogonadism
Klinefelter syndrome
XXY syndrome
XXY trisomy
kleinfelters syndrome (xxy)
disease_ontology
DOID:1921
No OMIM mapping, confirmed by DO. [LS].
Klinefelter's syndrome
true
Klinefelter's syndrome is a common sex chromosomal abnormality and the most common cause of male hypogonadism. This syndrome is characterized by cognitive and behavioral dysfunction and hypogonadism. Seizures usually start between 3 months and 3 years of age and are typically well controlled with anti-seizure medication. Variable electroclinical characteristics may be seen from patient to patient, however generalized seizures (absence, tonic-clonic) are common seizure types. This disorder is diagnosed on routine karyotype examination.
https://www.epilepsydiagnosis.org/aetiology/chromosomal-abnormalities-overview.html#kleinfelters
A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.
GARD:8233
ICD10CM:E75.22
MESH:D005776
NCI:C61268
ORDO:355
SNOMEDCT_US_2018_03_01:2859005
SNOMEDCT_US_2018_03_01:62201009
UMLS_CUI:C0017205
Gaucher disease
acid beta-glucosidase deficiency
glocucerebrosidase deficiency
glucosylceramide beta-glucosidase deficiency
kerasin thesaurismosis
disease_ontology
DOID:1926
Xref MGI.
OMIM mapping confirmed by DO. [SN].
Gaucher's disease
https://www.epilepsy.com/learn/professionals/co-existing-disorders/metabolic-disorders/inborn-errors/gauchers-disease
true
A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates.
GARD:7672
ICD10CM:E75.3
MESH:D013106
NCI:C117254
SNOMEDCT_US_2018_03_01:58459009
UMLS_CUI:C0037899
Sphingolipidosis
sphingolipidoses
disease_ontology
DOID:1927
sphingolipidosis
A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance.
CSP2005:4008-0043
GARD:5810
ICD10CM:Q93.5
MESH:D017204
NCI:C75462
OMIM:105830
SNOMEDCT_US_2018_03_01:76880004
UMLS_CUI:C0162635
Angelman syndrome results from deletion or inactivation of genes on the maternally-inherited chromosome 15q11-q13 region, while the paternal copy, which may be of normal sequence, is imprinted and therefore silenced. The patient has severe intellectual impairment, developmental delay, epilepsy, sleep disorder, jerky movements (especially hand-flapping), ataxia, frequent laughter or smiling, and usually a happy demeanor. Dysmorphic features are well recognized: microcephaly, prominent mandible, pointed chin, protruding tongue, and fair hair and complexion with blue eyes. Seizures are seen in up to 90% and usually start under the age of 2 years, commonly with generalized seizure types (generalized tonic-clonic, atypical absences, myoclonic seizures). Seizures may be aggravated by fever and by certain anti-seizure medications such as carbamazepine and lamotrigine. The EEG is usually very abnormal, and more abnormal than clinically expected. High amplitude 2-3 Hz frontal predominant activity may be seen; symmetrical 4-6 Hz high voltage activity or 3-6 Hz occipital activity overlaid with spikes and sharp waves and associated with eye closure are other patterns that occur. A CGH microarray is usually the most useful diagnostic test.
happy puppet syndrome
puppetlike syndrome
disease_ontology
DOID:1932
OMIM mapping confirmed by DO. [SN].
Angelman syndrome
https://www.ilae.org/guidelines/definition-and-classification
true
Angelman syndrome results from deletion or inactivation of genes on the maternally-inherited chromosome 15q11-q13 region, while the paternal copy, which may be of normal sequence, is imprinted and therefore silenced. The patient has severe intellectual impairment, developmental delay, epilepsy, sleep disorder, jerky movements (especially hand-flapping), ataxia, frequent laughter or smiling, and usually a happy demeanor. Dysmorphic features are well recognized: microcephaly, prominent mandible, pointed chin, protruding tongue, and fair hair and complexion with blue eyes. Seizures are seen in up to 90% and usually start under the age of 2 years, commonly with generalized seizure types (generalized tonic-clonic, atypical absences, myoclonic seizures). Seizures may be aggravated by fever and by certain anti-seizure medications such as carbamazepine and lamotrigine. The EEG is usually very abnormal, and more abnormal than clinically expected. High amplitude 2-3 Hz frontal predominant activity may be seen; symmetrical 4-6 Hz high voltage activity or 3-6 Hz occipital activity overlaid with spikes and sharp waves and associated with eye closure are other patterns that occur. A CGH microarray is usually the most useful diagnostic test.
https://www.epilepsydiagnosis.org/aetiology/chromosomal-abnormalities-overview.html#angelman
A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance.
DOID:1968
https://www.ncbi.nlm.nih.gov/pubmed/32149989
ICD10CM:G80
ICD10CM:G80.9
MESH:D002547
NCI:C34460
SNOMEDCT_US_2018_03_01:1178005
UMLS_CUI:C0007789
infantile cerebral palsy
disease_ontology
DOID:1969
cerebral palsy
http://www.case.edu/EpSO.owl#CerebralPalsy
true
A cognitive disorder that involves an excessive, irrational dread of everyday situations.
DOID:12884
ICD10CM:F41.9
MESH:D001008
NCI:C2878
OMIM:607834
SNOMEDCT_US_2018_03_01:65673007
UMLS_CUI:C0003469
anxiety
anxiety state
disease_ontology
DOID:2030
anxiety disorder
A specific developmental disorder that involves specific developmental disorders of speech and language.
ICD10CM:F80.9
MESH:D003147
NCI:C2958
SNOMEDCT_US_2018_03_01:74825008
UMLS_CUI:C0009460
disease_ontology
DOID:2033
communication disorder
An epilepsy syndrome that is characterised by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response.
MESH:D004828
NCI:C122812
SNOMEDCT_US_2018_03_01:29753000
SNOMEDCT_US_2018_03_01:67139004
UMLS_CUI:C0014547
Patients with focal epilepsy have focal seizure types, and may have typical interictal and/or ictal EEG findings that accompany focal seizure types (such as focal sharp waves or focal interictal slowing). Imaging showing a focal structural brain abnormality may be supportive, although patients with genetic etiologies and normal imaging can also have focal epilepsy. Focal epilepsies may be unifocal, multifocal or hemispheric.
localisation-related epilepsy
partial epilepsy
single focal epilepsy
disease_ontology
DOID:2234
focal epilepsy
http://www.case.edu/EpSO.owl#FocalEpilepsy
true
Patients with focal epilepsy have focal seizure types, and may have typical interictal and/or ictal EEG findings that accompany focal seizure types (such as focal sharp waves or focal interictal slowing). Imaging showing a focal structural brain abnormality may be supportive, although patients with genetic etiologies and normal imaging can also have focal epilepsy. Focal epilepsies may be unifocal, multifocal or hemispheric.
https://www.epilepsydiagnosis.org/epilepsy/focal-epilepsy-groupoverview.html
A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.
DOID:2315
https://www.ncbi.nlm.nih.gov/pubmed/18777476
ICD10CM:G45.9
MESH:D002546
NCI:C50781
SNOMEDCT_US_2018_03_01:38609002
UMLS_CUI:C0007787
TIA
TIA - Transient ischaemic attack
TRANSIENT ISCHEMIC ATTACK
Transient cerebral ischaemia
Transient cerebral ischemia
Transient ischemic attacks
transient ischemic attack
disease_ontology
DOID:224
transient cerebral ischemia
true
A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality.
MESH:D013577
NCI:C28193
SNOMEDCT_US_2018_03_01:64572001
UMLS_CUI:C0039082
disease_ontology
DOID:225
syndrome
An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.
https://www.ncbi.nlm.nih.gov/pubmed/9532709
MESH:D002545
SNOMEDCT_US_2018_03_01:11890005
UMLS_CUI:C0007786
Ischaemic encephalopathy
Ischemic encephalopathy
cerebral ischemia
ischemic brain disease
disease_ontology
DOID:2316
brain ischemia
true
A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.
https://www.ncbi.nlm.nih.gov/pubmed/30562654
CSP2005:2042-2324
EFO:0003885
GARD:10255
ICD10CM:G35
ICD9CM:340
MESH:D009103
NCI:C3243
OMIM:612594
OMIM:612595
OMIM:612596
SNOMEDCT_US_2018_03_01:24700007
UMLS_CUI:C0026769
Generalized multiple sclerosis
insular sclerosis
disease_ontology
DOID:2377
OMIM mapping confirmed by DO. [LS].
multiple sclerosis
true
A central nervous system benign neoplasm that has_material_basis_in mature neurons, and is classified by the absence of neoplastic glial cells.
https://www.ncbi.nlm.nih.gov/pubmed/21741275
GARD:10638
MESH:D005729
NCI:C6934
SNOMEDCT_US_2018_03_01:53801007
disease_ontology
DOID:2426
gangliocytoma
http://www.case.edu/EpSO.owl#Gangliocytoma
true
A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality.
EFO:0000677
ICD9CM:298.8
UMLS_CUI:C0029516
mental or behavioural disorder
disease_ontology
DOID:2468
psychotic disorder
https://www.ncbi.nlm.nih.gov/pubmed/15347872
ICD9CM:742
UMLS_CUI:C0158538
Congenital Neurological Deficit
congenital neurologic anomaly
disease_ontology
DOID:2490
congenital nervous system abnormality
http://www.case.edu/EpSO.owl#CongenitalNeurologicalDeficit
true
GARD:6855
ICD10CM:G40.8
MESH:D018887
NCI:C84806
OMIM:245570
ORDO:98818
UMLS_CUI:C0282512
Landau Kleffner syndrome is characterized by subacute onset of acquired aphasia in a child with normal previous development and cognition. Seizures may not occur in all cases, and when present are infrequent and self-limiting. However, there is a high risk of significant residual language impairment.
acquired epileptic aphasia
disease_ontology
DOID:2538
OMIM mapping confirmed by DO. [SN].
Landau-Kleffner syndrome
true
Landau Kleffner syndrome is characterized by subacute onset of acquired aphasia in a child with normal previous development and cognition. Seizures may not occur in all cases, and when present are infrequent and self-limiting. However, there is a high risk of significant residual language impairment.
https://www.epilepsydiagnosis.org/syndrome/lks-overview.html
A variable age at onset electroclinical syndrome that is consistently induced by identifiable and objective-specific triggers, which may be an afferent stimulus or by the patient's own activity.
MESH:D020195
MTHICD9_2006:345.5
NCI:C85041
SNOMEDCT_US_2018_03_01:79745005
UMLS_CUI:C0270857
Reflex epilepsies are characterized by the presence of reflex seizures and the absence of spontaneous seizures. Reflex seizures may occur in epilepsies of varied etiologies (e.g. in structural brain abnormality and in genetic/idiopathic generalized epilepsies), however these are not categorized as reflex epilepsies as spontaneous seizures occur in addition to reflex seizures.
epilepsy, sensory-induced
disease_ontology
DOID:2548
reflex epilepsy
true
true
true
Reflex epilepsies are characterized by the presence of reflex seizures and the absence of spontaneous seizures. Reflex seizures may occur in epilepsies of varied etiologies (e.g. in structural brain abnormality and in genetic/idiopathic generalized epilepsies), however these are not categorized as reflex epilepsies as spontaneous seizures occur in addition to reflex seizures.
https://www.epilepsydiagnosis.org/syndrome/reflex-epilepsies-overview.html
A cardiovascular organ benign neoplasm that has_material_basis_in endothelial cells that line blood vessels and is characterised by increased number of normal or abnormal vessels filled with blood.
ICD10CM:D18.0
ICD10CM:D18.00
ICD9CM:228.0
ICD9CM:228.00
MESH:D006391
NCI:C3085
SNOMEDCT_US_2018_03_01:2099007
SNOMEDCT_US_2018_03_01:93474003
UMLS_CUI:C0018916
disease_ontology
DOID:255
hemangioma
An endocrine system disease that is located_in the pancreas.
ICD10CM:K86.8
ICD10CM:K86.89
ICD9CM:577.8
UMLS_CUI:C0029771
disease_ontology
DOID:26
pancreas disease
A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body.
ICD10CM:E34.9
ICD9CM:259.9
MESH:D004700
NCI:C3009
SNOMEDCT_US_2018_03_01:67432001
UMLS_CUI:C0014130
disease_ontology
DOID:28
endocrine system disease
A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety.
DOID:12703
DOID:13829
DOID:13830
DOID:2840
DOID:5783
https://www.ncbi.nlm.nih.gov/books/NBK1169/
EFO:0000270
GARD:10246
ICD10CM:J45
ICD10CM:J45.90
ICD10CM:J45.909
ICD9CM:493
ICD9CM:493.9
KEGG:05310
MESH:D001249
NCI:C28397
SNOMEDCT_US_2018_03_01:21341004
UMLS_CUI:C0004096
Exercise induced asthma
bronchial hyperreactivity
chronic obstructive asthma
chronic obstructive asthma with acute exacerbation
chronic obstructive asthma with status asthmaticus
exercise-induced asthma
disease_ontology
DOID:2841
Xref MGI.
asthma
true
An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles).
DOID:4069
CSP2005:4009-0053
GARD:6922
ICD10CM:I45.81
ICD9CM:426.82
MESH:D008133
MESH:D029597
NCI:C34786
NCI:C85049
OMIM:PS192500
ORDO:101016
ORDO:768
SNOMEDCT_US_2018_03_01:20852007
SNOMEDCT_US_2018_03_01:9651007
UMLS_CUI:C0023976
UMLS_CUI:C0035828
LQT
Romano-Ward syndrome
long Q-T syndrome
disease_ontology
DOID:2843
OMIM mapping confirmed by DO. [SN].
long QT syndrome
https://www.epilepsydiagnosis.org/epilepsy-imitators.html#longqt
true
true
A sleep disorder that involves involuntarily grinding or clenching of the teeth while sleeping.
DOID:8891
ICD10CM:F45.8
ICD10CM:G47.63
ICD9CM:327.53
MESH:D002012
MESH:D020186
MTHICD9_2006:306.8
NCI:C73511
SNOMEDCT_US_2018_03_01:90207007
UMLS_CUI:C0006325
UMLS_CUI:C0393774
Bruxism - teeth grinding
Grinding teeth
Teeth grinding
sleep related bruxism
disease_ontology
DOID:2846
bruxism
http://s3.amazonaws.com/host-article-assets/rou/588018d47f8c9d0a098b4e3a/fulltext.pdf
http://www.case.edu/EpSO.owl#Bruxism
true
true
A disease of anatomical entity that is located_in the immune system.
EFO:0000540
ICD10CM:D89.9
ICD9CM:279
ICD9CM:279.9
UMLS_CUI:C0041806
disease_ontology
DOID:2914
immune system disease
A hypersensitivity reaction disease that is characterized by a cell-mediated response to antigens, where Th1 helper T cells react with antigens on antigen-presenting cells and cause a delayed type immune response.
ICD10CM:C88.9
MESH:D007160
SNOMEDCT_US_2018_03_01:86295000
UMLS_CUI:C0021070
disease_ontology
immunoproliferative disease
DOID:2916
hypersensitivity reaction type IV disease
An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates.
DOID:9434
CSP2005:0551-8201
MESH:D002239
UMLS_CUI:C0007001
disorder of carbohydrate transport and metabolism
inborn carbohydrate metabolism disorder
inborn errors of carbohydrate metabolism
disease_ontology
DOID:2978
carbohydrate metabolic disorder
A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning.
MESH:D019966
NCI:C16522
SNOMEDCT_US_2018_03_01:26416006
UMLS_CUI:C0013146
disease_ontology
drug abuse
DOID:302
substance abuse
http://www.case.edu/EpSO.owl#SubstanceAbuse
https://www.epilepsy.com/learn/triggers-seizures/drug-abuse
true
A disease of mental health involving the abuse or dependence on a substance that is ingested in order to produce a high, alter one's senses, or otherwise affect functioning.
MESH:D019966
NCI:C92203
UMLS_CUI:C0236969
disease_ontology
DOID:303
substance-related disorder
An astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.
DOID:3075
DOID:3080
CSP2005:2012-6410
GARD:2491
MESH:D005909
NCI2004_11_17:C3058
NCI2004_11_17:C9094
NCI:C129295
NCI:C3058
NCI:C39750
NCI:C9094
SNOMEDCT_US_2018_03_01:63634009
UMLS_CUI:C0017636
UMLS_CUI:C0278878
UMLS_CUI:C1514422
GBM
adult glioblastoma multiforme
grade IV adult Astrocytic tumor
primary glioblastoma multiforme
spongioblastoma multiforme
disease_ontology
DOID:3068
glioblastoma multiforme
http://www.case.edu/EpSO.owl#GlioblastomaMultiforme
A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord.
DOID:4861
CSP2005:2012-6768
ICDO:M9400/3
MESH:D001254
NCI:C4951
NCI:C60781
NCI:C6958
SNOMEDCT_US_2018_03_01:38713004
UMLS_CUI:C0004114
UMLS_CUI:C0750935
Astrocytic tumor
Astrocytoma, NOS
astrocytoma of Cerebrum
astrocytoma of brain
astroglioma
cerebral astrocytoma
disease_ontology
DOID:3069
astrocytoma
CSP2005:0485-7984
MESH:D004831
MTHICD9_2006:345.1
UMLS_CUI:C0014550
Early myoclonic encephalopathy is a syndrome characterized by frequent intractable seizures and severe early encephalopathy resulting in limited development and reduced life expectancy.
Epileptic seizures - myoclonic
Epileptic seizures, myoclonic
Myoclonic seizure
Myoclonic seizure disorder
myoclonia epileptica
myoclonic epilepsy
disease_ontology
DOID:308
early myoclonic encephalopathy
true
true
true
Early myoclonic encephalopathy is a syndrome characterized by frequent intractable seizures and severe early encephalopathy resulting in limited development and reduced life expectancy.
https://www.epilepsydiagnosis.org/syndrome/eme-overview.html
ICD10CM:E88.42
MESH:D017243
MTHICD9_2006:277.87
NCI:C84889
OMIM:545000
SNOMEDCT_US_2018_03_01:57254004
SNOMEDCT_US_2018_03_01:68448003
UMLS_CUI:C0162672
MERRF (myoclonic epilepsy with ragged red fibres) presents in the second decade or later, as progressive myoclonus epilepsy with typical EEG findings of giant somatosensory potentials and photosensitivity. Clinically, patients show prominent myoclonic seizures as well as other seizure types.
Fukuhara syndrome
Myoclonic epilepsy - ragged red fibers
Myoclonic epilepsy with ragged red fibres
Myoclonus epilepsy AND ragged red fibers
Myoclonus with epilepsy and with Ragged Red Fibers
disease_ontology
DOID:310
OMIM mapping confirmed by DO. [SN].
MERRF syndrome
true
MERRF (myoclonic epilepsy with ragged red fibres) presents in the second decade or later, as progressive myoclonus epilepsy with typical EEG findings of giant somatosensory potentials and photosensitivity. Clinically, patients show prominent myoclonic seizures as well as other seizure types.
https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html#mitochondrial
A gastrointestinal system disease that is located_in the liver and/or biliary tract.
NCI:C3959
UMLS_CUI:C0267792
liver and biliary tract disease
disease_ontology
DOID:3118
hepatobiliary disease
A porphyria that has_symptom abdominal pain, has_symptom neuropathy, has_symptom autonomic instability and has_symptom psychosis.
MESH:D017094
OMIM:612740
ORDO:100924
SNOMEDCT_US_2018_03_01:55056006
UMLS_CUI:C0162533
hepatic porphyria
disease_ontology
DOID:3133
Xref MGI.
acute porphyria
https://www.epilepsy.com/learn/professionals/co-existing-disorders/metabolic-disorders/inborn-errors/hepatic-porphyria
true
DOID:3182
https://www.ncbi.nlm.nih.gov/pubmed/26478444
GARD:9953
MESH:D009837
NCI2004_11_17:C6960
NCI:C129319
NCI:C6960
SNOMEDCT_US_2018_03_01:73348003
UMLS_CUI:C0028945
UMLS_CUI:C1335110
Oligodendrogliomas are cerebral tumors that are differentiated from other gliomas on the basis of their unique genetic characteristics and better response to chemotherapy. These tumors are classified according to their grade (low grade oligodendrogliomas: grade II of the WHO classification and anaplastic oligodendrogliomas: grade III of the WHO classification) and according to their pure or mixed histology (oligoastrocytomas).
oligodendroglial neoplasm
oligodendroglial tumor
disease_ontology
DOID:3181
oligodendroglioma
http://www.case.edu/EpSO.owl#Oligodendroglioma
true
Oligodendrogliomas are cerebral tumors that are differentiated from other gliomas on the basis of their unique genetic characteristics and better response to chemotherapy. These tumors are classified according to their grade (low grade oligodendrogliomas: grade II of the WHO classification and anaplastic oligodendrogliomas: grade III of the WHO classification) and according to their pure or mixed histology (oligoastrocytomas).
http://purl.obolibrary.org/obo/MONDO_0018744
ICD10CM:G95.9
ICD9CM:336.9
MESH:D013118
NCI:C97110
SNOMEDCT_US_2018_03_01:48522003
SNOMEDCT_US_2018_03_01:95648003
UMLS_CUI:C0037928
disease_ontology
myelopathy
DOID:319
spinal cord disease
An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.
CSP2005:1849-5878
MESH:D016464
NCI:C61250
SNOMEDCT_US_2018_03_01:23585005
UMLS_CUI:C0085078
disorder of lysosomal enzyme
inborn lysosomal enzyme disorder
lysosomal storage metabolism disorder
disease_ontology
DOID:3211
lysosomal storage disease
A neurodegenerative disease that is characterized by damage to the myelin sheath present around nerve axons.
MESH:D003711
NCI2004_11_17:C34527
NCI:C34527
UMLS_CUI:C0011303
demyelinating disorder
disease_ontology
DOID:3213
demyelinating disease
A vascular disease that is characterized by a restriction in blood supply to tissues.
MESH:D007511
NCI:C34738
SNOMEDCT_US_2018_03_01:52674009
UMLS_CUI:C0022116
disease_ontology
DOID:326
ischemia
A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system.
ICD10CM:G96.9
MESH:D002493
NCI:C2934
SNOMEDCT_US_2018_03_01:23853001
UMLS_CUI:C0007682
disease_ontology
DOID:331
central nervous system disease
A mood disorder that involves alternating periods of mania and depression.
DOID:3311
DOID:9554
DOID:9555
https://www.ncbi.nlm.nih.gov/pubmed/31552392
CSP2005:2483-6684
CSP2005:2483-6691
EFO:0000289
ICD10CM:F31
ICD10CM:F31.9
ICD9CM:296.40
ICD9CM:296.60
ICD9CM:296.80
MESH:D001714
NCI2004_11_17:C34423
NCI2004_11_17:C34805
NCI:C34423
NCI:C34424
NCI:C34805
SNOMEDCT_US_2018_03_01:13746004
SNOMEDCT_US_2018_03_01:16506000
SNOMEDCT_US_2018_03_01:68569003
UMLS_CUI:C0005586
UMLS_CUI:C0005587
UMLS_CUI:C0024713
UMLS_CUI:C0236780
Manic Bipolar Affective disorder
Manic Depressive disorder
Manic bipolar I disorder
bipolar depression
bipolar disorder manic phase
manic depression
manic disorder
mixed bipolar disorder
disease_ontology
Depressive-manic psych.
DOID:3312
bipolar disorder
http://www.case.edu/EpSO.owl#BipolarDisorder
true
A cognitive disorder that involves a disturbance in mood as the predominant underlying feature.
https://www.ncbi.nlm.nih.gov/pubmed/18472483
EFO:0004247
ICD10CM:F30-F39
ICD10CM:F39
MESH:D019964
NCI:C92200
SNOMEDCT_US_2018_03_01:46206005
SNOMEDCT_US_2018_03_01:74421008
UMLS_CUI:C0525045
episodic mood disorder
disease_ontology
DOID:3324
Updating outdated UMLS CUI.
mood disorder
true
MESH:D004833
MTHICD9_2006:345.4
SNOMEDCT_US_2018_03_01:84340007
UMLS_CUI:C0014556
A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see epilepsy, complex partial) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion).
epilepsy, temporal lobe
disease_ontology
DOID:3328
temporal lobe epilepsy
http://www.case.edu/EpSO.owl#TemporalLobeEpilepsy
true
A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see epilepsy, complex partial) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion).
http://purl.obolibrary.org/obo/MONDO_0005115
MESH:D019305
OMIM:117100
UMLS_CUI:C0376532
Childhood epilepsy with centrotemporal spikes (previously known as benign childhood epilepsy with centrotemporal spikes (BCECTS) or Rolandic epilepsy) is a self-limiting epilepsy seen in children in their early school years. The seizures are brief, hemifacial seizures that may evolve to a focal to bilateral tonic-clonic seizure if they occur nocturnally. This epilepsy occurs in children who are otherwise neurologically and cognitively normal and imaging studies are unremarkable. The EEG shows a normal background with high amplitude centrotemporal sharp waves, which are activated with drowsiness and sleep. Seizures cease by mid to late adolescence.
BCECTS
BenignChildhoodEpilepsyWithCentrotemporalSpikes
benign Rolandic epilepsy
benign childhood epilepsy with centrotemporal spike
rolandic epilepsy
sylvan seizures
disease_ontology
DOID:3329
benign epilepsy with centrotemporal spikes
http://www.case.edu/EpSO.owl#BenignChildhoodEpilepsyWithCentrotemporalSpikes
Childhood epilepsy with centrotemporal spikes (previously known as benign childhood epilepsy with centrotemporal spikes (BCECTS) or Rolandic epilepsy) is a self-limiting epilepsy seen in children in their early school years. The seizures are brief, hemifacial seizures that may evolve to a focal to bilateral tonic-clonic seizure if they occur nocturnally. This epilepsy occurs in children who are otherwise neurologically and cognitively normal and imaging studies are unremarkable. The EEG shows a normal background with high amplitude centrotemporal sharp waves, which are activated with drowsiness and sleep. Seizures cease by mid to late adolescence.
https://www.epilepsydiagnosis.org/syndrome/ects-overview.html
MESH:D017034
UMLS_CUI:C0085541
A localization-related (focal) form of epilepsy characterized by seizures which arise in the frontal lobe. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures).
Frontal lobe epilepsy
disease_ontology
DOID:3331
frontal lobe epilepsy
http://www.case.edu/EpSO.owl#FrontalLobeEpilepsy
true
A localization-related (focal) form of epilepsy characterized by seizures which arise in the frontal lobe. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures).
http://purl.obolibrary.org/obo/MONDO_0002612
A bone disease that results_in inflammation of the located_in bone.
CSP2005:2715-2703
MESH:D010000
SNOMEDCT_US_2018_03_01:44462005
UMLS_CUI:C0029400
Inflammatory disorder of bone
bone inflammatory disease
osteitis
disease_ontology
DOID:3342
bone inflammation disease
An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.
DOID:10506
DOID:3363
DOID:3394
DOID:9420
https://www.ncbi.nlm.nih.gov/pubmed/32014726
CSP2005:1393-3397
EFO:0001645
ICD10CM:I20-I25
ICD10CM:I25
ICD10CM:I25.1
ICD10CM:I25.10
ICD10CM:I25.9
ICD10CM:K76.1
ICD9CM:410-414.99
ICD9CM:414.0
ICD9CM:414.9
MESH:D003324
MESH:D003327
MESH:D017202
NCI2004_11_17:C26732
NCI:C35505
NCI:C50625
OMIM:300464
OMIM:607339
OMIM:608316
OMIM:608318
OMIM:608320
OMIM:610947
OMIM:611139
OMIM:612030
OMIM:614293
SNOMEDCT_US_2018_03_01:2610009
SNOMEDCT_US_2018_03_01:32598000
SNOMEDCT_US_2018_03_01:41702007
SNOMEDCT_US_2018_03_01:53741008
SNOMEDCT_US_2018_03_01:84537008
UMLS_CUI:C0010054
UMLS_CUI:C0010068
UMLS_CUI:C0151744
UMLS_CUI:C0264694
CHD
Coronary disease
coronary arteriosclerosis
coronary heart disease
disease_ontology
DOID:3393
Xref MGI.
coronary artery disease
true
A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain.
MESH:D020520
UMLS_CUI:C0751955
disease_ontology
DOID:3454
brain infarction
A skin disease where there is a diffuse infection of connective tissue with severe inflammation of dermal and subcutaneous layers of the skin. Cellulitis can be caused by normal skin flora or by exogenous bacteria, and often occurs where the skin has previously been broken: cracks in the skin, cuts, blisters, burns, insect bites, surgical wounds, or sites of intravenous catheter insertion.
DOID:2472
ICD10CM:L03.90
MESH:D002481
NCI:C26715
NCI:C34454
SNOMEDCT_US_2018_03_01:62837005
SNOMEDCT_US_2018_03_01:74276003
UMLS_CUI:C0007642
UMLS_CUI:C0007646
disease_ontology
DOID:3488
cellulitis
A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.
https://www.ncbi.nlm.nih.gov/pubmed/30022372
ICD10CM:I63
ICD10CM:I63.9
MESH:D002544
NCI:C50486
OMIM:601367
SNOMEDCT_US_2018_03_01:20059004
UMLS_CUI:C0007785
CVA - Cerebral infarction
Cerebral infarct
Cerebral infarction
disease_ontology
DOID:3526
cerebral infarction
http://www.case.edu/EpSO.owl#CerebralInfarction
true
A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges.
DOID:1137
DOID:3554
DOID:3567
DOID:4750
https://www.ncbi.nlm.nih.gov/pubmed/31604333
GARD:7015
ICD10CM:D32.9
ICDO:M9530/3
MESH:D008577
MESH:D008579
NCI:C3229
NCI:C3230
NCI:C4656
NCI:C6971
NCI:C7048
UMLS_CUI:C0025284
UMLS_CUI:C0025286
UMLS_CUI:C0349604
UMLS_CUI:C1334698
UMLS_CUI:C1336537
intracranial meningioma
meningeal neoplasm
meningothelial cell tumor
neoplasm of the meninges
primary Meningeal tumor
supratentorial meningioma
disease_ontology
DOID:3565
meningioma
http://www.case.edu/EpSO.owl#Meningioma
true
A nervous system cancer that is located_in the central nervous system.
DOID:0060093
DOID:1318
CSP2005:2012-5421
EFO:0000326
ICD10CM:C72.9
MESH:D016543
NCI2004_11_17:C4627
NCI2004_11_17:C9293
NCI:C4627
NCI:C9293
SNOMEDCT_US_2018_03_01:93744007
UMLS_CUI:C0085136
UMLS_CUI:C0348374
CNS neoplasm
central nervous system tumor
central nervous system tumors
malignant neoplasm of central nervous system
malignant tumor of CNS
neoplasm of central nervous system
disease_ontology
DOID:3620
central nervous system cancer
A urinary system disease that is located_in the bladder.
ICD10CM:N32.9
ICD9CM:596.9
MESH:D001745
NCI:C2900
SNOMEDCT_US_2018_03_01:42643001
UMLS_CUI:C0005686
Urinary Bladder Disease
disease_ontology
DOID:365
bladder disease
A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, has_symptom myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and severe headaches, and develops_from mutation in mitochondrial genes including MT-TL1, which encodes tRNA proteins.
ICD10CM:E88.41
MESH:D017241
NCI:C84885
OMIM:540000
SNOMEDCT_US_2018_03_01:39925003
UMLS_CUI:C0162671
MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) frequently leads to seizures, especially during acute stroke-like episodes where focal seizures arise in the involved cortical areas. Epilepsia partialis continua may occur.
MELAS
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes
disease_ontology
DOID:3687
OMIM mapping confirmed by DO. [SN].
MELAS syndrome
http://www.case.edu/EpSO.owl#MitochondrialEncephalomyopathyLacticAcidosisStrokelikeEpisodes
true
MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) frequently leads to seizures, especially during acute stroke-like episodes where focal seizures arise in the involved cortical areas. Epilepsia partialis continua may occur.
https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html#mitochondrial
An integumentary system disease that is located_in skin.
DOID:1576
DOID:1698
DOID:187
DOID:6486
DOID:8948
ICD9CM:702
MESH:D012871
MESH:D012873
NCI:C27554
NCI:C3371
SNOMEDCT_US_2018_03_01:5613003
SNOMEDCT_US_2018_03_01:80659006
SNOMEDCT_US_2018_03_01:95320005
UMLS_CUI:C0029574
UMLS_CUI:C0037274
UMLS_CUI:C0037277
Genodermatosis
skin and subcutaneous tissue disease
disease_ontology
DOID:37
skin disease
An acquired metabolic disease that is characterized by an insufficient intake of food or of certain nutrients, by an inability of the body to absorb and use nutrients, or by overconsumption of certain foods.
MESH:D009748
NCI2004_11_17:C26836
NCI:C26836
SNOMEDCT_US_2018_03_01:2492009
UMLS_CUI:C3714509
Nutritional disorder
disease_ontology
DOID:374
nutrition disease
A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.
DOID:10096
DOID:12688
DOID:12691
DOID:415
DOID:9901
DOID:9902
GARD:7827
MESH:D014375
SNOMEDCT_US_2018_03_01:15202009
UMLS_CUI:C0041295
Seizures can occur in meningo-tuberculosis due to cerebral vasculitis and infarction, especially in young children and in people co-infected with HIV. Seizures with focal features may also occur as a consequence of tuberculomas, identified as ring-enhancing lesions on neuroimaging.
disease_ontology
DOID:399
tuberculosis
true
Seizures can occur in meningo-tuberculosis due to cerebral vasculitis and infarction, especially in young children and in people co-infected with HIV. Seizures with focal features may also occur as a consequence of tuberculomas, identified as ring-enhancing lesions on neuroimaging.
https://www.epilepsydiagnosis.org/aetiology/infectious-groupoverview.html
A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
MESH:D004194
NCI:C2991
SNOMEDCT_US_2020_09_01:64572001
UMLS_CUI:C0012634
disease_ontology
DOID:4
disease
DOID:2164
DOID:2165
DOID:46
ICD10CM:K70-K77
ICD10CM:K76.9
ICD9CM:573.9
MESH:D008107
NCI2004_11_17:C3196
NCI:C3196
SNOMEDCT_US_2018_03_01:62857009
UMLS_CUI:C0023895
disorder of liver
hepatic disorder
disease_ontology
DOID:409
liver disease
https://www.epilepsy.com/learn/professionals/co-existing-disorders/gastrointestinal-liver-disease
true
A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss.
DOID:4019
GARD:8
ICD10CM:R48.1
ICD10CM:R48.2
MESH:D000377
MESH:D001072
NCI:C84542
SNOMEDCT_US_2018_03_01:42341009
SNOMEDCT_US_2018_03_01:68345001
SNOMEDCT_US_2018_03_01:6950007
UMLS_CUI:C0001816
UMLS_CUI:C0003635
Dyspraxia
Dyspraxia syndrome
disease_ontology
DOID:4090
agnosia
An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues.
autoimmune disease
https://www.ncbi.nlm.nih.gov/pubmed/30562654
ICD9CM:720
OMIM:109100
UMLS_CUI:C0003089
autoimmune disease
hypersensitivity reaction type II disease
disease_ontology
DOID:417
Xref MGI.
autoimmune hypersensitivity disease
true
true
MESH:D044882
NCI:C53655
UMLS_CUI:C1257958
disorder of glucose metabolism
disease_ontology
DOID:4194
glucose metabolism disease
https://www.ncbi.nlm.nih.gov/pubmed/21851492
MESH:D023921
NCI:C80427
UMLS_CUI:C0242231
Coronary artery stenosis
disease_ontology
DOID:4248
coronary stenosis
true
An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom dyspnea.
DOID:443
DOID:444
https://www.ncbi.nlm.nih.gov/pubmed/30562654
GARD:7122
ICD10CM:G70.0
ICD10CM:G70.00
ICD9CM:358.0
ICD9CM:358.00
MESH:D009157
NCI:C60989
OMIM:254200
SNOMEDCT_US_2018_03_01:91637004
UMLS_CUI:C0026896
UMLS_CUI:C1260409
disease_ontology
DOID:437
OMIM mapping confirmed by DO. [SN].
myasthenia gravis
true
true
An autoimmune hypersensitivity disease affecting the nervous system.
CSP2005:1560-5548
MESH:D020274
NCI:C99383
UMLS_CUI:C0751871
disease_ontology
autoimmune nervous system disorder
DOID:438
autoimmune disease of the nervous system
A reading disorder resulting from a developmental reading disability involving the inability to process graphic symbols resulting in impairment of reading ability.
ICD10CM:F81.0
MESH:D004410
NCI:C96410
OMIM:300509
OMIM:600202
OMIM:604254
OMIM:606616
OMIM:606896
OMIM:608995
SNOMEDCT_US_2018_03_01:52824009
SNOMEDCT_US_2018_03_01:59770006
SNOMEDCT_US_2018_03_01:9236007
UMLS_CUI:C0476254
disease_ontology
DOID:4428
Xref MGI.
dyslexia
https://www.epilepsydiagnosis.org/seizure/cognitive-overview.html
true
A writing disorder that involves a deficiency in the ability to write where the writing is distorted or incorrect, spelling difficulty, poor handwriting or trouble putting thoughts on paper.
https://www.ncbi.nlm.nih.gov/pubmed/26132164
ICD10CM:R48.8
MESH:D000381
SNOMEDCT_US_2018_03_01:27206009
UMLS_CUI:C0001825
disease_ontology
DOID:4540
dysgraphia
https://www.epilepsydiagnosis.org/seizure/cognitive-overview.html
true
An amnestic disorder that involves a loss of one's pre-existing memories to conscious recollection.
ICD10CM:R41.2
MESH:D000648
NCI:C34372
SNOMEDCT_US_2018_03_01:51921000
UMLS_CUI:C0002624
disease_ontology
DOID:4543
retrograde amnesia
true
A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma.
https://www.ncbi.nlm.nih.gov/pubmed/6527775
CSP2005:0485-0998
MESH:D001929
SNOMEDCT_US_2018_03_01:2032001
SNOMEDCT_US_2018_03_01:85974009
UMLS_CUI:C1527311
intracranial swelling
wet brain
disease_ontology
DOID:4724
brain edema
true
A disease of mental health that involves physical symptoms suggesting a physical illness where the biological or medical cause of the symptoms is indeterminate.
DOID:10133
DOID:144
CSP2005:2482-7019
ICD10CM:F45
ICD10CM:F45.0
ICD10CM:F45.9
ICD9CM:300.8
ICD9CM:300.81
MESH:D013001
NCI:C34956
SNOMEDCT_US_2018_03_01:31297008
SNOMEDCT_US_2018_03_01:60368009
SNOMEDCT_US_2018_03_01:9514005
UMLS_CUI:C0037650
UMLS_CUI:C0520482
physiological malfunction arising from mental factor
psychophysiologic disorder
psychosomatic disorder
disease_ontology
DOID:4737
somatoform disorder
A brain disease that is characterized by a clinical syndrome of either hyperkinetic movement or hyperkinetic movement unrelated to weakness or spasticity.
MESH:D009069
NCI:C116757
SNOMEDCT_US_2018_03_01:60342002
UMLS_CUI:C0026650
disease_ontology
DOID:480
movement disease
An astrocytoma that is characterized by cells that look like fibers when viewed under a microscope and is located_in the brain.
GARD:9808
MESH:D001254
NCI2004_11_17:C4047
NCI:C4047
SNOMEDCT_US_2018_03_01:67859002
UMLS_CUI:C0334583
Piloid astrocytoma
grade I Astrocytic tumor
disease_ontology
DOID:4851
pilocytic astrocytoma
http://www.case.edu/EpSO.owl#PilocyticAstrocytoma
https://www.ncbi.nlm.nih.gov/pubmed/31361236
NCI2004_11_17:C4323
NCI:C4323
SNOMEDCT_US_2018_03_01:78838008
UMLS_CUI:C0334586
Pleomorphic Xantho-astrocytoma
disease_ontology
DOID:4852
pleomorphic xanthoastrocytoma
http://www.case.edu/EpSO.owl#PleomorhicXanthoastrocytoma
true
A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years.
DOID:0050326
GARD:6808
MESH:D020190
NCI:C84796
OMIM:254770
ORDO:307
ORDO:862
SNOMEDCT_US_2018_03_01:6204001
UMLS_CUI:C0270853
This syndrome is one of the most common genetic/idiopathic generalized epilepsies and is characterized by myoclonic and generalized tonic-clonic seizures in an otherwise normal adolescent or adult. The EEG shows generalized spike-and-wave and polyspike-and-wave. Photosensitivity is common.
Janz syndrome
disease_ontology
DOID:4890
Xref MGI.
OMIM mapping confirmed by DO. [SN].
juvenile myoclonic epilepsy
http://www.case.edu/EpSO.owl#JuvenileMyoclonicEpilepsy
true
true
This syndrome is one of the most common genetic/idiopathic generalized epilepsies and is characterized by myoclonic and generalized tonic-clonic seizures in an otherwise normal adolescent or adult. The EEG shows generalized spike-and-wave and polyspike-and-wave. Photosensitivity is common.
https://www.epilepsydiagnosis.org/syndrome/jme-overview.html
An endocrine system disease that is located_in the thyroid.
https://www.ncbi.nlm.nih.gov/pubmed/18777476
https://www.ncbi.nlm.nih.gov/pubmed/26362394
ICD10CM:E00-E07
ICD10CM:E07.9
ICD9CM:240-246.99
ICD9CM:246.9
MESH:D013959
NCI:C26893
SNOMEDCT_US_2018_03_01:14304000
UMLS_CUI:C0040128
Transient ischemic attack
disease_ontology
Thyroid hormone abnormalities
DOID:50
thyroid gland disease
true
A cell type benign neoplasm that has_material_basis_in glial-type cells.
DOID:5606
DOID:5607
GARD:2430
MESH:D018303
NCI:C27362
NCI:C27363
NCI:C3788
SNOMEDCT_US_2018_03_01:89880005
UMLS_CUI:C0206716
UMLS_CUI:C1332202
UMLS_CUI:C1332969
A gangliogliomas is a glioneuronal tumor that is cortically based, and may have a solid and/or multicystic appearance. Histologically, gangliogliomas are characterized by large ganglion-like cells, intermixed with glial (predominantly astrocytic) cells. They are commonly found in the temporal lobes, but can be found elsewhere. They may co-occur with adjacent focal cortical dysplasia (FCD IIIb), suggesting a common developmental etiology for both structural abnormalities.
CNS ganglioglioma
adult ganglioglioma
childhood ganglioglioma
disease_ontology
DOID:5078
ganglioglioma
http://www.case.edu/EpSO.owl#Ganglioglioma
true
A gangliogliomas is a glioneuronal tumor that is cortically based, and may have a solid and/or multicystic appearance. Histologically, gangliogliomas are characterized by large ganglion-like cells, intermixed with glial (predominantly astrocytic) cells. They are commonly found in the temporal lobes, but can be found elsewhere. They may co-occur with adjacent focal cortical dysplasia (FCD IIIb), suggesting a common developmental etiology for both structural abnormalities.
https://www.epilepsydiagnosis.org/aetiology/ganglioglioma-overview.html
A nutrition disease that is characterized by deficiency of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content.
MESH:D003677
UMLS_CUI:C0011156
disease_ontology
DOID:5113
nutritional deficiency disease
https://www.epilepsy.com/learn/triggers-seizures/nutritional-deficiencies
true
A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.
CSP2005:1560-6305
ICD10CM:B20
ICD10CM:B20-B20
ICD9CM:042
ICD9CM:042-042.99
MESH:D015658
NCI:C3108
SNOMEDCT_US_2018_03_01:86406008
UMLS_CUI:C0019693
Seizures can result from primary cerebral HIV infection, especially in children. In adults, most seizures are cause by related opportunistic central nervous system infections such as toxoplasmosis, cryptococcal meningitis and tuberculomas; or due to secondary neoplastic lesions.
HIV
HIV infection
disease_ontology
DOID:526
human immunodeficiency virus infectious disease
true
Seizures can result from primary cerebral HIV infection, especially in children. In adults, most seizures are cause by related opportunistic central nervous system infections such as toxoplasmosis, cryptococcal meningitis and tuberculomas; or due to secondary neoplastic lesions.
https://www.epilepsydiagnosis.org/aetiology/infectious-groupoverview.html
A gastrointestinal system disease that is located_in the intestine.
DOID:10759
DOID:11222
DOID:11789
DOID:8531
DOID:8558
DOID:8591
ICD10CM:K63.9
ICD9CM:569.9
MESH:D007410
NCI:C26801
SNOMEDCT_US_2018_03_01:85919009
UMLS_CUI:C0021831
disease_ontology
DOID:5295
intestinal disease
An amnestic disorder that involves the impaired or lost ability to memorize new things.
ICD10CM:R41.1
MESH:D020324
SNOMEDCT_US_2018_03_01:88822006
UMLS_CUI:C0233795
disease_ontology
DOID:5340
anterograde amnesia
true
A disease of mental health that involves disruption of sleep patterns.
DOID:9028
ICD9CM:307.4
UMLS_CUI:C0154564
Non-organic sleep disorder
disease_ontology
DOID:535
sleep disorder
http://www.case.edu/EpSO.owl#SleepDisorder
https://www.epilepsy.com/learn/professionals/co-existing-disorders/sleep-disorders
https://www.ncbi.nlm.nih.gov/pubmed/30924504
NCI:C7739
UMLS_CUI:C0238814
disease_ontology
DOID:5393
brain angioma
true
A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.
DOID:14734
https://www.ncbi.nlm.nih.gov/pubmed/8252282
EFO:0000692
ICD10CM:F20
ICD10CM:F20.9
ICD9CM:295
ICD9CM:295.9
ICD9CM:295.90
MESH:D012559
NCI:C3362
OMIM:181500
SNOMEDCT_US_2018_03_01:58214004
UMLS_CUI:C0036341
schizophrenia-1
disease_ontology
DOID:5419
Xref MGI.
OMIM mapping confirmed by DO. [SN].
schizophrenia
http://www.case.edu/EpSO.owl#Schizophrenia
true
true
A urinary system disease that is located_in the kidney.
EFO:0003086
ICD10CM:N08
ICD10CM:N28.9
MESH:D007674
NCI:C3149
NCI:C34843
SNOMEDCT_US_2018_03_01:90708001
UMLS_CUI:C0022658
Renal Disorders
nephropathy
disease_ontology
DOID:557
kidney disease
https://www.epilepsy.com/learn/professionals/co-existing-disorders/renal-disorders
true
An eye and adnexa disease that is located_in the eye.
DOID:2933
ICD10CM:H44
ICD10CM:H44.9
ICD9CM:360
ICD9CM:360.9
ICD9CM:379.90
MESH:D005128
NCI:C26767
SNOMEDCT_US_2018_03_01:79517001
UMLS_CUI:C0015397
disease_ontology
DOID:5614
eye disease
A neuropathy that is located_in one of the twelve cranial nerves.
ICD10CM:G52.9
ICD9CM:352.9
MESH:D003389
NCI2004_11_17:C26733
NCI:C26733
SNOMEDCT_US_2018_03_01:73013002
UMLS_CUI:C0010266
Cranial nerve disorder
disorder of cranial nerve
disease_ontology
DOID:5656
cranial nerve disease
A nervous system disease that affects the peripheral nervous system.
DOID:13069
CSP2005:2042-6617
ICD10CM:G64
ICD9CM:350-359.99
MESH:D010523
MTH:516
NCI:C119734
NCI:C27580
NCI:C27587
SNOMEDCT_US_2018_03_01:42658009
UMLS_CUI:C0031117
UMLS_CUI:C1335029
disease_ontology
peripheral nerve disease
peripheral neuropathy
DOID:574
peripheral nervous system disease
A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.
https://www.ncbi.nlm.nih.gov/pubmed/19655091
CSP2005:1393-3417
EFO:0000612
ICD10CM:I21
ICD10CM:I22
MESH:D009203
NCI:C27996
OMIM:608557
SNOMEDCT_US_2018_03_01:22298006
SNOMEDCT_US_2018_03_01:66514008
UMLS_CUI:C0027051
Myocardial infarct
heart attack
disease_ontology
DOID:5844
Xref MGI.
myocardial infarction
true
An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation.
ICD10CM:F40
ICD10CM:F40.9
ICD9CM:300.2
ICD9CM:300.20
MESH:D010698
NCI:C35420
SNOMEDCT_US_2018_03_01:52039009
SNOMEDCT_US_2018_03_01:65673007
UMLS_CUI:C0349231
disease_ontology
DOID:591
phobic disorder
A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable.
ICD10CM:F40.0
ICD10CM:F40.00
MESH:D000379
NCI:C34362
SNOMEDCT_US_2018_03_01:70691001
UMLS_CUI:C0001818
Fear of open spaces
disease_ontology
DOID:593
agoraphobia
true
An anxiety disorder that is characterized by unexpected and repeated episodes of intense fear accompanied by physical symptoms that may include chest pain, heart palpitations, shortness of breath, dizziness, or abdominal distress.
https://www.ncbi.nlm.nih.gov/pubmed/30865078
CSP2005:4000-0280
EFO:0004262
ICD10CM:F41.0
MESH:D016584
NCI:C34890
OMIM:167870
OMIM:607853
OMIM:609985
UMLS_CUI:C0030319
panic anxiety syndrome
disease_ontology
DOID:594
Xref MGI.
panic disorder
true
A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.
DOID:395
CSP2005:1393-3597
ICD10CM:I50
ICD10CM:I50.9
ICD9CM:428
ICD9CM:428.0
ICD9CM:428.9
MESH:D006333
MTHICD9_2006:428.0
MTHICD9_2006:428.9
NCI2004_11_17:C3080
NCI:C3080
NCI:C50577
SNOMEDCT_US_2018_03_01:42343007
SNOMEDCT_US_2018_03_01:84114007
UMLS_CUI:C0018801
UMLS_CUI:C0018802
CHF
Cardiac Failure Congestive
Congestive heart disease
Weak heart
disease_ontology
DOID:6000
congestive heart failure
https://www.epilepsy.com/learn/professionals/co-existing-disorders/cardiac-disorders
true
A disease that has_material_basis_in genetic variations in the human genome.
MESH:D030342
NCI:C3101
SNOMEDCT_US_2018_03_01:32895009
UMLS_CUI:C0019247
disease_ontology
DOID:630
genetic disease
A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per ��L of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.
https://www.ncbi.nlm.nih.gov/pubmed/10474720
EFO:0000765
ICD10CM:B20
MESH:D000163
NCI2004_11_17:C2851
NCI:C2851
SNOMEDCT_US_2018_03_01:62479008
UMLS_CUI:C0001175
AIDS
acquired Immune deficiency
disease_ontology
acquired immune deficiency syndrome
DOID:635
acquired immunodeficiency syndrome
https://www.epilepsy.com/learn/professionals/co-existing-disorders/infectious-states-seizures/viral-infections/human
true
true
A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing.
DOID:12437
EFO:0003821
ICD10CM:G43
ICD10CM:G43.9
ICD10CM:G43.909
ICD9CM:346
ICD9CM:346.9
MESH:D008881
NCI:C89715
OMIM:157300
SNOMEDCT_US_2018_03_01:37796009
UMLS_CUI:C0042331
UMLS_CUI:C0149931
migraine disorder
migraine variant
migraine with or without aura
disease_ontology
DOID:6364
Xref MGI.
OMIM mapping confirmed by DO. [SN].
migraine
https://www.epilepsy.com/learn/professionals/co-existing-disorders/migraine-epilepsy
true
true
An encephalitis that involves inflammation of the brain caused by viral infection.
DOID:10248
DOID:10249
DOID:10839
CSP2005:2042-4896
MESH:D004671
NCI:C34576
SNOMEDCT_US_2018_03_01:20411005
SNOMEDCT_US_2018_03_01:68197003
UMLS_CUI:C0014055
Encephalitis is a recognized complication of infections with a number of viruses. Herpes simplex virus type 1 is the most common viral cause. Affected individuals present with acute encephalopathy and seizures, epilepsy develops in around 50% of cases. Other less common etiologies for viral encephalitis include human herpes virus 6 (associated with acute limbic encephalitis and febrile status epilepticus), influenza B, varicella, measles, mumps and rubella viruses.
epidemic encephalitis
disease_ontology
DOID:646
viral encephalitis
true
Encephalitis is a recognized complication of infections with a number of viruses. Herpes simplex virus type 1 is the most common viral cause. Affected individuals present with acute encephalopathy and seizures, epilepsy develops in around 50% of cases. Other less common etiologies for viral encephalitis include human herpes virus 6 (associated with acute limbic encephalitis and febrile status epilepticus), influenza B, varicella, measles, mumps and rubella viruses.
https://www.epilepsydiagnosis.org/aetiology/infectious-groupoverview.html
A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage.
CSP2005:0729-7208
MESH:D003240
NCI:C26729
UMLS_CUI:C0009782
connective tissue disorder
disorder of connective tissue
disease_ontology
DOID:65
connective tissue disease
A nutrition disease that is characterized by an excess of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content.
MESH:D044343
UMLS_CUI:C1257763
disease_ontology
DOID:654
Updated outdated UMLS CUI.
overnutrition
A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.
CSP2005:1849-0057
MESH:D008661
NCI2004_11_17:C34816
NCI:C34816
SNOMEDCT_US_2018_03_01:86095007
UMLS_CUI:C0025521
Inborn Errors of Metabolism
Metabolic hereditary disorder
inborn metabolism disorder
disease_ontology
DOID:655
inherited metabolic disorder
A brain angioma that is characterized by vascular abnormalities that develops from cranial and spinal blood vasculature, has_material_basis_in abnormally proliferating cells, derives_from endothelial cells in and about the vascular lumen.
NCI2004_11_17:C5433
NCI:C5433
UMLS_CUI:C0877388
Cerebral angiomas are vascular abnormalities comprised of clusters of abnormally dilated blood vessels. They can be singular or multiple, and are found in the brain, spinal cord, and rarely, in other areas of the body including the skin and retina.
hemangioma of Cerebrum
disease_ontology
DOID:6621
cerebral angioma
true
Cerebral angiomas are vascular abnormalities comprised of clusters of abnormally dilated blood vessels. They can be singular or multiple, and are found in the brain, spinal cord, and rarely, in other areas of the body including the skin and retina.
https://www.epilepsydiagnosis.org/aetiology/cerebral-angioma-overview.html
An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain.
DOID:12214
DOID:3455
DOID:8231
CSP2005:0617-5539
EFO:0000712
ICD10CM:I60-I69
ICD10CM:I63.9
ICD10CM:I67.9
ICD9CM:430-438.99
ICD9CM:437.9
MESH:D002561
MESH:D020521
NCI:C2938
NCI:C3390
SNOMEDCT_US_2018_03_01:62914000
SNOMEDCT_US_2018_03_01:82797006
UMLS_CUI:C0007820
UMLS_CUI:C0038454
CVA
Cerebrovascular accident
cerebrovascular accident
cerebrovascular disorder
stroke
disease_ontology
DOID:6713
OMIM mapping confirmed by DO. [SN].
cerebrovascular disease
http://www.case.edu/EpSO.owl#CerebrovascularDisease
A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain.
MESH:D024801
UMLS_CUI:C0949664
disease_ontology
DOID:680
tauopathy
A disease that manifests in a defined anatomical structure.
DOID:1
DOID:2
DOID:5
DOID:71
DOID:72
DOID:8
disease_ontology
DOID:7
disease of anatomical entity
An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.
https://www.ncbi.nlm.nih.gov/pubmed/27856781
EFO:0000685
ICD10CM:M06.9
ICD9CM:714.0
KEGG:05323
MESH:D001172
MTHICD9_2006:714.0
NCI2004_11_17:C27206
NCI:C2884
OMIM:180300
SNOMEDCT_US_2018_03_01:69896004
UMLS_CUI:C0003873
Arthritis or polyarthritis, rheumatic
atrophic Arthritis
disease_ontology
DOID:7148
OMIM mapping confirmed by DO. [SN].
rheumatoid arthritis
https://www.healio.com/rheumatology/rheumatoid-arthritis/news/online/%7Bc65ca682-7bc8-4bae-8c69-45b38526cf5e%7D/patients-with-ra-may-be-at-higher-risk-for-epilepsy
true
true
A disease of anatomical entity that is located_in the gastrointestinal tract.
DOID:27
DOID:944
CSP2005:1248-3545
ICD10CM:K92.9
ICD9CM:520-579.99
MESH:D004066
SNOMEDCT_US_2018_03_01:53619000
UMLS_CUI:C0012242
GIT disease
Gastroenteropathy
alimentary system disease
digestive system disorder
gastrointestinal disease
gastrointestinal disorder
disease_ontology
DOID:77
gastrointestinal system disease
An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type.
MESH:D004830
MTHICD9_2006:345.1
NCI2004_11_17:C3022
NCI:C3022
UMLS_CUI:C0014549
This syndrome (previously known as epilepsy with grand mal seizures on awakening) is a common genetic/idiopathic generalized epilepsy. Individuals have infrequent generalized tonic-clonic seizures from the second decade of life, typically provoked by sleep deprivation.
Epilepsy with generalized tonic-clonic seizure alone
Epileptic seizures, tonic-clonic
Grand Mal epilepsy
Primary generalized tonic-clonic seizure
tonic-clonic epilepsy
disease_ontology
DOID:7725
JA:Epilepsy Genetics Kiel
epilepsy with generalized tonic-clonic seizures
true
This syndrome (previously known as epilepsy with grand mal seizures on awakening) is a common genetic/idiopathic generalized epilepsy. Individuals have infrequent generalized tonic-clonic seizures from the second decade of life, typically provoked by sleep deprivation.
https://www.epilepsydiagnosis.org/syndrome/egtcsa-overview.html
A thyroid gland disease that involves an over production of thyroid hormone.
ICD10CM:E05.9
MESH:D006980
NCI2004_11_17:C3123
NCI:C3123
OMIM:603373
OMIM:609152
ORDO:99819
SNOMEDCT_US_2018_03_01:34486009
UMLS_CUI:C0020550
overactive thyroid
disease_ontology
DOID:7998
Xref MGI.
hyperthyroidism
https://www.epilepsy.com/learn/professionals/co-existing-disorders/metabolic-disorders/hyperthyroidism
true
A syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye.
https://www.ncbi.nlm.nih.gov/pubmed/20301555
GARD:5764
MESH:D058540
NCI:C35256
OMIM:304050
ORDO:50
SNOMEDCT_US_2018_03_01:80651009
UMLS_CUI:C0175713
disease_ontology
DOID:8461
OMIM mapping confirmed by DO. [SN].
Aicardi syndrome
https://ghr.nlm.nih.gov/condition/aicardi-syndrome
true
A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint and/or redness located_in skin over the joint.
ICD10CM:M19.90
MESH:D001168
NCI:C2883
SNOMEDCT_US_2018_03_01:3723001
UMLS_CUI:C0003864
Inflammatory disorder of joint
disease_ontology
DOID:848
arthritis
A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.
DOID:11894
DOID:11895
DOID:29
DOID:766
ICD10CM:J98.4
MESH:D008171
NCI:C3198
SNOMEDCT_US_2018_03_01:19829001
UMLS_CUI:C0024115
disease_ontology
DOID:850
Updating out dated CUI and removing lung abscess as a synonym.
lung disease
An autoimmune disease of skin and connective tissue characterized by large blisters.
https://www.ncbi.nlm.nih.gov/pubmed/30562654
GARD:5972
ICD10CM:L12
ICD10CM:L12.0
ICD10CM:L12.9
ICD9CM:694.5
MESH:D010391
NCI:C34908
NCI:C84389
SNOMEDCT_US_2018_03_01:77090002
SNOMEDCT_US_2018_03_01:86142006
UMLS_CUI:C0030805
Bullous pemphigoid
disease_ontology
DOID:8506
bullous pemphigoid
true
https://www.ncbi.nlm.nih.gov/books/NBK2609/
ICD10CM:K21
ICD10CM:K21.9
ICD9CM:530.81
MESH:D005764
MTHICD9_2006:530.81
NCI2004_11_17:C26781
NCI:C26781
OMIM:109350
SNOMEDCT_US_2018_03_01:54856001
UMLS_CUI:C0017168
A chronic disorder characterized by reflux of the gastric and/or duodenal contents into the distal esophagus. It is usually caused by incompetence of the lower esophageal sphincter. Symptoms include heartburn and acid indigestion. It may cause injury to the esophageal mucosa.
Acid reflux
GERD
GERD - Gastro-esophageal reflux disease
Gastresophageal reflux
Gastro-esophageal reflux
Gastroesophageal reflux
Gastroesophageal reflux disease
disease_ontology
DOID:8534
OMIM mapping confirmed by DO. [SN].
gastroesophageal reflux disease
true
A chronic disorder characterized by reflux of the gastric and/or duodenal contents into the distal esophagus. It is usually caused by incompetence of the lower esophageal sphincter. Symptoms include heartburn and acid indigestion. It may cause injury to the esophageal mucosa.
http://purl.obolibrary.org/obo/MONDO_0007186
A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system.
ICD10CM:G00-G99
ICD10CM:G98
ICD10CM:G98.8
ICD9CM:349.9
MESH:D009422
NCI:C26835
UMLS_CUI:C0027765
disease_ontology
DOID:863
nervous system disease
A nervous system disease that is located_in nerves or nerve cells.
ICD10CM:G62.9
NCI:C4731
SNOMEDCT_US_2018_03_01:42658009
UMLS_CUI:C0442874
peripheral neuropathy
disease_ontology
DOID:870
neuropathy
An intestinal disease that involves inflammation located_in intestine.
DOID:8784
DOID:8855
DOID:8942
https://www.ncbi.nlm.nih.gov/pubmed/26549780
EFO:0000384
GARD:10232
ICD10CM:K50.1
ICD9CM:555.1
MESH:D003424
NCI2004_11_17:C37262
NCI:C35211
NCI:C37262
SNOMEDCT_US_2018_03_01:50440006
SNOMEDCT_US_2018_03_01:7620006
UMLS_CUI:C0156147
Crohn disease
Crohn's disease of colon
Crohn's disease of large bowel
Granulomatous Colitis
Pediatric Crohn's disease
disease_ontology
DOID:8778
MESH:C536215 added from NeuroDevNet [WAK].
Crohn's disease
https://www.epilepsy.com/learn/professionals/co-existing-disorders/inflammatory-disorders
true
An autoimmune hypersensitivity disease that is characterized by a constellation of findings that include elevated antibodies to nuclear antigens, antiphospholipids, low complement levels, ulcers, non-scarring alopecia, renal or neurologic damage, and low white blood cell and platelet counts, has_symptom rashes, fatigue, arthritis, hair loss, seizures, and symptoms related to affected organs, and has_material_basis_in autoimmune disorder.
ICD10CM:L93
ICD10CM:L93.0
ICD9CM:695.4
NCI2004_11_17:C27153
NCI:C27153
UMLS_CUI:C0409974
lupus
disease_ontology
DOID:8857
lupus erythematosus
A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis).
https://www.ncbi.nlm.nih.gov/pubmed/29379967
https://www.ncbi.nlm.nih.gov/pubmed/30562654
EFO:0004256
GARD:6267
ICD10CM:G36.0
ICD9CM:341.0
MESH:D009471
NCI:C84934
SNOMEDCT_US_2018_03_01:25044007
UMLS_CUI:C0027873
Devic's disease
Devic's syndrome
disease_ontology
DOID:8869
neuromyelitis optica
true
A skin disease that is characterized by patches of thick red skin and silvery scales.
https://www.ncbi.nlm.nih.gov/pubmed/24687183
EFO:0000676
GARD:10262
ICD10CM:L40
ICD10CM:L40.9
MESH:D011565
NCI:C3346
OMIM:PS177900
SNOMEDCT_US_2018_03_01:9014002
UMLS_CUI:C0033860
disease_ontology
DOID:8893
Xref MGI.
Update outdated UMLS CUI from C00295134 to C0033860.
psoriasis
true
A variable age at onset electroclinical syndrome characterised by a relentlessly progressive disease course until death.
GARD:7140
MESH:D020191
NCI2004_11_17:C7636
NCI:C7636
OMIM:310370
OMIM:PS254800
SNOMEDCT_US_2018_03_01:89480000
UMLS_CUI:C0751778
Progressive myoclonus epilepsy should considered in a patient with myoclonic seizures, with or without generalized tonic-clonic seizures in the following settings:
Progressive cognitive decline , Myoclonus resulting in progressive motor impairment, Cerebellar signs , Background slowing on EEG (particularly if increasing over time), Myoclonus that is refractory to trials of appropriate anti-seizure medication
PME
progressive Myoclonus epilepsy
progressive myoclonic epilepsy
disease_ontology
DOID:891
OMIM mapping confirmed by DO. [SN].
OMIM mapping submitted by NeuroDevNet. [LS].
progressive myoclonus epilepsy
true
true
Progressive myoclonus epilepsy should considered in a patient with myoclonic seizures, with or without generalized tonic-clonic seizures in the following settings:
Progressive cognitive decline , Myoclonus resulting in progressive motor impairment, Cerebellar signs , Background slowing on EEG (particularly if increasing over time), Myoclonus that is refractory to trials of appropriate anti-seizure medication
https://www.epilepsydiagnosis.org/syndrome/pme-overview.html
A specific developmental disorder that involves difficulty in scholastic skills such as reading, writing, spelling, reasoning, recalling and/or organizing information resulting from the brain's inability to receive and process information.
DOID:2847
CSP2005:2483-6402
ICD10CM:F81.9
MESH:D007859
NCI:C89334
SNOMEDCT_US_2018_03_01:1855002
UMLS_CUI:C0023186
UMLS_CUI:C0751265
Academic skill disorder
learning disorder
disease_ontology
DOID:8927
learning disability
true
A viral infectious disease that results_in infection located_in brain and that has_material_basis_in Measles virus which is immune resistant.
https://www.ncbi.nlm.nih.gov/pubmed/24073547
CSP2005:2042-2360
GARD:7708
ICD10CM:A81.1
ICD9CM:046.2
MESH:D013344
NCI:C85171
OMIM:260470
SNOMEDCT_US_2018_03_01:84196008
UMLS_CUI:C0038522
Immunosuppressive measles encephalitis
Subacute Sclerosing Panencephalitis
Subacute sclerosing panencephalitis
Van Bogaert's sclerosing leukoencephalitis
subacute sclerosing leukoencephalopathy
disease_ontology
DOID:8970
subacute sclerosing panencephalitis
true
A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work.
DOID:8985
CSP2005:2056-7716
EFO:0000614
GARD:7162
ICD10CM:G47.41
ICD10CM:G47.419
ICD9CM:347.0
MESH:D009290
NCI:C84489
OMIM:161400
OMIM:605841
OMIM:609039
OMIM:612417
OMIM:612851
OMIM:614223
OMIM:614250
ORDO:2073
SNOMEDCT_US_2018_03_01:60380001
UMLS_CUI:C0027404
Narcolepsy, without cataplexy
paroxysmal sleep
disease_ontology
DOID:8986
Xref MGI.
narcolepsy
http://www.case.edu/EpSO.owl#Narcolepsy
https://www.epilepsy.com/learn/professionals/co-existing-disorders/sleep-disorders/narcolepsy
true
An inherited metabolic disorder that involves peroxisome malfunction.
ICD10CM:E71.5
ICD10CM:E71.50
ICD9CM:277.86
ICD9CM_2006:277.86
MESH:D018901
NCI:C85005
UMLS_CUI:C0282528
Peroxisomal disorders are an uncommon cause of epilepsy, usually presenting with seizures in early life, in a neonate or infant with severe neurological impairment. Malformations of cortical development may co-occur in specific peroxisomal disorders, including Zellweger syndrome and neonatal adrenoleucodystrophy. Focal seizures, generalized seizures and epileptic spasms may occur. Diagnosis is through identification of abnormal levels of very long chain fatty acids.
Peroxisomal disorder
peroxisomal disorder
disease_ontology
DOID:906
peroxisomal disease
true
Peroxisomal disorders are an uncommon cause of epilepsy, usually presenting with seizures in early life, in a neonate or infant with severe neurological impairment. Malformations of cortical development may co-occur in specific peroxisomal disorders, including Zellweger syndrome and neonatal adrenoleucodystrophy. Focal seizures, generalized seizures and epileptic spasms may occur. Diagnosis is through identification of abnormal levels of very long chain fatty acids.
https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html#peroxisomal
A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.
https://www.ncbi.nlm.nih.gov/pubmed/25214788
CSP2005:0729-7721
EFO:0002690
GARD:10253
ICD10CM:M32
ICD10CM:M32.9
ICD9CM:710.0
KEGG:05322
MESH:D008180
MTH:U002054
NCI2004_11_17:C3201
NCI:C3201
OMIM:152700
OMIM:300809
OMIM:605480
OMIM:608437
OMIM:609903
OMIM:609939
OMIM:610065
OMIM:610066
OMIM:612254
OMIM:612378
OMIM:613145
OMIM:614420
ORDO:536
SNOMEDCT_US_2018_03_01:55464009
UMLS_CUI:C0024141
Lupus Erythematosus, systemic
SLE - Lupus Erythematosus, systemic
disseminated lupus erythematosus
disease_ontology
DOID:9074
Xref MGI.
systemic lupus erythematosus
true
true
A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement.
https://www.ncbi.nlm.nih.gov/pubmed/29791879
ICD10CM:G47.52
ICD9CM:327.42
MESH:D020187
UMLS_CUI:C0751772
REM sleep disorders occur when the physiological REM atonia of dreaming sleep does not occur normally, causing individuals to act out the motor movements of their dreams. Kicking, running, shouting and even more complex movements can occur.
REM sleep behaviour disorder
REM sleep disorder
Rapid eye movement sleep behavior disorder
Rapid eye movement sleep behaviour disorder
Rapid eye movement sleep disorder
disease_ontology
DOID:9091
REM sleep behavior disorder
http://www.case.edu/EpSO.owl#RapidEyeMovementBehaviorDisorder
true
true
REM sleep disorders occur when the physiological REM atonia of dreaming sleep does not occur normally, causing individuals to act out the motor movements of their dreams. Kicking, running, shouting and even more complex movements can occur.
https://www.epilepsydiagnosis.org/epilepsy-imitators.html#rem
A communication disorder that involves difficulty with the act of speech production.
https://www.ncbi.nlm.nih.gov/pubmed/29241678
MESH:D013064
NCI:C5041
UMLS_CUI:C0037822
disease_ontology
DOID:92
speech disorder
true
A sleep disorder that involves involuntary limb movement during sleep.
ICD10CM:G47.61
ICD9CM:327.51
MESH:D020189
UMLS_CUI:C0751774
The movements occuring principally in stage 1 and 2 of non-rapid eye movement sleep and are characteristically repetitive stereotyped flexion of toes, ankles, knees and hips though sometimes the upper limbs may also flex.
Periodic leg movement
nocturnal myoclonus
disease_ontology
DOID:9207
periodic limb movement disorder
http://www.case.edu/EpSO.owl#PeriodicLimbMovementDisorder
https://www.epilepsy.com/learn/professionals/co-existing-disorders/sleep-disorders/periodic-limb-movements-and-restless-legs
true
true
The movements occuring principally in stage 1 and 2 of non-rapid eye movement sleep and are characteristically repetitive stereotyped flexion of toes, ankles, knees and hips though sometimes the upper limbs may also flex.
https://www.epilepsydiagnosis.org/epilepsy-imitators.html#per-legmov
An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.
GARD:5793
ICD10CM:E72.9
ICD9CM:270
ICD9CM:270.9
MESH:D000592
NCI:C97090
SNOMEDCT_US_2018_03_01:42930003
SNOMEDCT_US_2018_03_01:44779003
UMLS_CUI:C0002514
inborn errors of amino acid metabolism
disease_ontology
DOID:9252
amino acid metabolic disorder
An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.
DOID:14455
CSP2005:1849-1177
GARD:7383
ICD9CM:270.1
MESH:D010661
MESH:D017042
MTHICD9_2006:270.1
NCI:C81315
OMIM:261600
ORDO:716
UMLS_CUI:C0031485
UMLS_CUI:C0085547
F��lling's disease
PKU
maternal phenylketonuria
phenylalaninemia
disease_ontology
DOID:9281
OMIM mapping confirmed by DO. [SN].
phenylketonuria
https://www.epilepsy.com/learn/professionals/co-existing-disorders/metabolic-disorders/inborn-errors/phenylketonuria
true
true
A communication disorder that involves the processing of linguistic information.
https://www.ncbi.nlm.nih.gov/pubmed/29241678
ICD10CM:F80.9
MESH:D007806
NCI:C97155
SNOMEDCT_US_2018_03_01:62305002
UMLS_CUI:C0023015
Language Dysfunction
dysphasia
disease_ontology
DOID:93
language disorder
true
true
true
DOID:10750
DOID:10751
DOID:9482
https://www.ncbi.nlm.nih.gov/pubmed/29720810
ICD10CM:H53.42
ICD10CM:H53.45
ICD9CM:368.42
ICD9CM:368.44
ICD9CM_2006:368.42
MESH:D012607
MTHICD9_2006:368.42
SNOMEDCT_US_2018_03_01:33970004
UMLS_CUI:C0029657
UMLS_CUI:C0152192
Blind spot area scotoma
Enlarged angioscotoma
Enlarged blind spot
Enlarged paracaecal scotoma
Generalized visual field contraction or constriction
Scotoma of blind spot area
Sector or arcuate visual field defects
disease_ontology
DOID:9335
scotoma
true
true
A disease by infectious agent that results in infection, has_material_basis_in Viruses.
DOID:1329
https://www.ncbi.nlm.nih.gov/books/NBK83677/
CSP2005:3099-8150
ICD10CM:A94
ICD10CM:B34
ICD10CM:B34.9
ICD9CM:060-066.99
ICD9CM:066.9
MESH:D001102
MESH:D014777
NCI2004_11_17:C3439
NCI:C3439
NCI:C34396
SNOMEDCT_US_2018_03_01:34014006
SNOMEDCT_US_2018_03_01:40610006
UMLS_CUI:C0003723
UMLS_CUI:C0042769
Viral Infection
Viral disease
virus infection
disease_ontology
DOID:934
viral infectious disease
true
A glucose metabolism disease characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.
ICD10CM:E08-E13
ICD9CM:250
MESH:D003920
NCI:C2985
SNOMEDCT_US_2018_03_01:73211009
UMLS_CUI:C0011849
disease_ontology
DOID:9351
diabetes mellitus
A central nervous system disease that is located_in the brain.
DOID:8510
ICD10CM:G93.40
ICD10CM:G93.9
ICD9CM:348.3
ICD9CM:348.30
ICD9CM:348.9
MESH:D001927
NCI:C26920
NCI:C96413
SNOMEDCT_US_2018_03_01:76011009
SNOMEDCT_US_2018_03_01:81308009
UMLS_CUI:C0006111
UMLS_CUI:C0085584
encephalopathy
disease_ontology
DOID:936
brain disease
A brain disease that is characterized by high pressure inside the skull, the brain tissue and cerebrospinal fluid, has_symptom headache, has_symptom vomiting, has_symptom altered mental status, has_symptom papilledema.
MESH:D019586
NCI:C84791
SNOMEDCT_US_2018_03_01:28073009
UMLS_CUI:C0151740
Raised intracranial pressure may cause decerebrate or decorticate posturing, which can be paroxysmal and mistaken for tonic-clonic or tonic seizures. Affected individuals with raised intracranial pressure are expected to show signs of encephalopathy including alteration in conscious level (not improving in the minutes after the event, as one would expect in a post-ictal state), abnormalities of tone and reflexes and pupillary abnormality.
Raised intracranial pressure
disease_ontology
DOID:9428
intracranial hypertension
true
Raised intracranial pressure may cause decerebrate or decorticate posturing, which can be paroxysmal and mistaken for tonic-clonic or tonic seizures. Affected individuals with raised intracranial pressure are expected to show signs of encephalopathy including alteration in conscious level (not improving in the minutes after the event, as one would expect in a post-ictal state), abnormalities of tone and reflexes and pupillary abnormality.
https://www.epilepsydiagnosis.org/epilepsy-imitators.html#intracranial
A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues.
DOID:10583
CSP2005:1849-5707
ICD10CM:E75.6
ICD9CM:272.7
ICD9CM:272.8
MESH:D008064
MTHICD9_2006:272.7
SNOMEDCT_US_2018_03_01:10741005
SNOMEDCT_US_2018_03_01:11455007
UMLS_CUI:C0023794
UMLS_CUI:C0029591
Lipoid storage diseas
Lipoidosis
inborn lipid storage disorder
lipoidosis
disease_ontology
DOID:9455
lipid storage disease
A brain disease that is characterized as an acute inflammation of the brain with flu-like symptoms.
DOID:2160
MESH:D004660
NCI:C26760
SNOMEDCT_US_2018_03_01:45170000
UMLS_CUI:C0014038
disease_ontology
DOID:9588
encephalitis
http://www.case.edu/EpSO.owl#Encephalitis
A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement.
https://www.ncbi.nlm.nih.gov/pubmed/29791879
GARD:9851
MESH:C580065
ORDO:211062
UMLS_CUI:C1720189
Episodic ataxias are rare autosomal dominant disorders divided into two major categories: episodic ataxia type 1 (EA1) and 2 (EA2) both of which are channelopathies in which a movement disorder and epilepsy may co-exist.
Isaacs syndrome
disease_ontology
DOID:963
Xref MGI.
OMIM mapping confirmed by DO. [SN].
Updated outdated UMLS CUI.
episodic ataxia
true
true
Episodic ataxias are rare autosomal dominant disorders divided into two major categories: episodic ataxia type 1 (EA1) and 2 (EA2) both of which are channelopathies in which a movement disorder and epilepsy may co-exist.
https://www.epilepsydiagnosis.org/epilepsy-imitators.html#episodic-ataxias
A diabetes mellitus that results from the body's failure to produce insulin and has_material_basis_in autoimmune destruction of insulin-producing beta cells of the pancreas.
https://www.ncbi.nlm.nih.gov/pubmed/30600130
EFO:0001359
GARD:10268
ICD10CM:E10
KEGG:04940
MESH:D003922
NCI:C2986
OMIM:222100
SNOMEDCT_US_2018_03_01:46635009
UMLS_CUI:C0011854
Diabetes Mellitus Type 1
IDDM
insulin-dependent diabetes mellitus
type I diabetes mellitus
disease_ontology
DOID:9744
Xref MGI.
OMIM mapping confirmed by DO. [SN].
type 1 diabetes mellitus
true
true
An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.
https://www.ncbi.nlm.nih.gov/pubmed/20161538
EFO:0001073
ICD10CM:E66.9
ICD9CM:278.00
MESH:D009765
NCI:C3283
OMIM:601665
SNOMEDCT_US_2018_03_01:5476005
UMLS_CUI:C0028754
disease_ontology
DOID:9970
OMIM mapping confirmed by DO. [SN].
obesity
true
A substance-related disorder that involves the continued use of alcohol or other drugs despite problems related to use of the substance.
NCI:C35458
UMLS_CUI:C0439857
disease_ontology
DOID:9973
substance dependence
A glucose metabolism disease that is characterized by abnormally low levels of blood glucose.
ICD10CM:E16.2
ICD9CM:251.2
MESH:D007003
NCI:C3126
SNOMEDCT_US_2018_03_01:66694000
UMLS_CUI:C0020615
Hypoglycaemia
disease_ontology
DOID:9993
hypoglycemia
https://www.epilepsy.com/learn/professionals/co-existing-disorders/metabolic-disorders/electrolyte-abnormalities/hypoglycemia
true
Flow cytometry is a technique.
A technique is a planned process used to accomplish a specific activity or task.
PERSON: Melissa Haendel
http://en.wikipedia.org/wiki/Technique
Diagnostic Test
Protocol is added to eagle-i temporarily until a relationship between the informatio entity "protocol" and these planned processes is created. This class refers to the axtual process not the document
technique
true
An drug intervention for cancer.
A planned process used to influence one or more factors in a research study, and the independent variable in an interventional study wherein the influence is measured or evaluated.
PERSON: Melanie Wilson
PERSON: Melissa Haendel
intervention
educational intervention
An intervention which involves education, training programs, and courses in various fields and disciplines, and for training groups of persons.
PERSON: Melanie Wilson
PERSON: Melanie Wilson
https://www.ncbi.nlm.nih.gov/books/NBK100608/
MeSH ID: Q000193
educational intervention
true
psychological and behavioral intervention
Psychological or behavior intervention is a combination of program elements, strategies, or modalities designed to influence psychological or behavioral processes or outcomes.
PERSON: Matthew Brush
PERSON: Melanie Wilson
psychological and behavioral intervention
PCR.
An assay that generates data about the presence, abundance, structure, function, or activity of biological molecules, or a process that occurs at a molecular level of granularity.
PERSON: Nicole Vasilevsky
PERSON: Matthew Brush
molecular assay
A spinal tap may be performed to determine if a patient has a neurological disorder.
A technique used to collect cerebrospinal fluid (CSF) from an organism, which involves inserting a needle between the third and fourth lumbar vertebrae in the back and extracting a sample of fluid.
PERSON: Nicole Vasilevsky
CSF collection
Cerebrospinal fluid collection
Spinal tap
http://www.weissandnewberrymds.com/services.htm
https://www.ncbi.nlm.nih.gov/pubmed/26468872
Lumbar Puncture
cerebro-spinal tap
true
A DNA sequencing technique that became commercially available in 2004 and is used by specific commercial platforms that embody a complex interplay of enzymology, chemistry, high-resolution optics, hardware, and software engineering. These instruments allow highly streamlined sample preparation steps prior to DNA sequencing, which provides a significant time savings and a minimal requirement for associated equipment in comparison to the highly automated, multistep pipelines necessary for clone-based high-throughput sequencing. Each technology amplifies single strands of a fragment library and perform sequencing reactions on the amplified strands. The fragment libraries are obtained by annealing platform-specific linkers to blunt-ended fragments generated directly from a genome or DNA source of interest. Because the presence of adapter sequences means that the molecules then can be selectively amplified by PCR, and no bacterial cloning step is required to amplify the genomic fragment in a bacterial intermediate as is done in traditional sequencing approaches.
PERSON: Nicole Vasilevsky
Genome sequencing
High throughput DNA sequencing
High throughput nucleotide sequencing
NGS
Next gen
Next gen sequencing
Next generation sequencing of target genes
Nucleotide sequencing, high-throughput
Second generation sequencing
Sequencing, high-throughput nucleotide
Mardis (2008) Annu. Rev. Genomics Hum. Genet. 9:387-402
https://www.ncbi.nlm.nih.gov/pubmed/30661434
next generation DNA sequencing
true
Used to study brain function and activity.
A physiological assay that uses nuclear magnetic resonance of protons to produce proton density images.
PERSON: Nicole Vasilevsky
MRI
http://wordnetweb.princeton.edu/perl/webwn?s=mri
magnetic resonance imaging
true
true
Used to study brain function and activity.
A physiological assay that complements magnetic resonance imaging (MRI) as a non-invasive means for the characterization of tissue. While MRI uses the signal from hydrogen protons to form anatomic images, proton MRS uses this information to determine the concentration of brain metabolites such as N-acetyl aspartate (NAA), choline (Cho), creatine (Cr) and lactate in the tissue examined.
PERSON: Nicole Vasilevsky
MRS
http://www.ncbi.nlm.nih.gov/pubmed/16148633
https://www.ncbi.nlm.nih.gov/pubmed/27430454
magnetic resonance spectroscopy
true
true
Phenotype characterization of a transgenic mouse.
An assay that generates data about the physical characteristics, physological functions, or behavior of organisms or viruses.
PERSON: Nicole Vasilevsky
PERSON: Matthew Brush
organismal assay
PCR.
A molecular assay that generates data about the presence, abundance, structure, function, or activity of nucleic acids.
PERSON: Nicole Vasilevsky
PERSON: Matthew Brush
nucleic acid assay
Electrocardiogram.
An organismal assay designed to capture information pertaining to the the organic processes and phenomena of an organism or any of its parts or of a particular bodily process.
PERSON: Nicole Vasilevsky
http://www.merriam-webster.com/dictionary/physiology
physiological assay
MRI.
A technique used to create a representation or reproduction of an object's outward form; especially a visual representation (i.e., the formation of an image).
PERSON: Nicole Vasilevsky
http://en.wikipedia.org/wiki/Imaging
imaging technique
A physiological assay that utilizes systematic administration of defined procedures to measure specific psychological functions known to be linked to particular brain structures or pathways in humans.
PERSON: Nicole Vasilevsky
http://en.wikipedia.org/wiki/Neuropsychological_test
https://www.ncbi.nlm.nih.gov/pubmed/27789166
neuropsychological evaluation
neuropsychological testing
true
An imaging technique, in which a gamma camera rotates around the patient and takes pictures from many angles, and a tomographic (cross-sectional) image is generated.
PERSON: Nicole Vasilevsky
SPECT
http://www.medterms.com/script/main/art.asp?articlekey=18450
https://www.ncbi.nlm.nih.gov/pubmed/21490734
single photon emission computed tomography
true
true
true
Karyotyping of patient to determine if they carry a genetic disease.
A molecular assay used to determine the number and appearance of chromosomes in the nucleus of a eukaryotic cell.
PERSON: Nicole Vasilevsky
Chromosomal analysis
http://en.wikipedia.org/wiki/Karyotype
https://www.ncbi.nlm.nih.gov/pubmed/29722352
karyotyping
true
A physiological assay used in the study of sleep and as a diagnostic tool in sleep medicine.
PERSON: Nicole Vasilevsky
Sleep study
http://en.wikipedia.org/wiki/Polysomnography
polysomnography
true
An imaging technique that produces a three-dimensional image or picture of functional processes in the body. The system detects pairs of gamma rays emitted indirectly by a positron-emitting radionuclide (tracer), which is introduced into the body on a biologically active molecule. Three-dimensional images of tracer concentration within the body are then constructed by computer analysis.
PERSON: Nicole Vasilevsky
PET
http://en.wikipedia.org/wiki/Positron_emission_tomography
https://www.ncbi.nlm.nih.gov/pubmed/14537108
positron emission tomography
true
true
true
A genotyping assay that determines the complete DNA sequence of a cell or organism's genome at a single time.
PERSON:Matthew Brush
complete genome sequencing
entire genome sequencing
full genome sequencing
whole genome sequence analysis
http://en.wikipedia.org/wiki/Whole_genome_sequencing
https://www.ncbi.nlm.nih.gov/pubmed/29722352
Includes chromosomal and mitochondiral genomes, and chloroplast genomes in plants.
whole genome sequencing
true
A magnetic resonance imaging technique that measures brain activity by detecting associated changes in blood flow. The procedure is similar to MRI but uses the change in magnetization between oxygen-rich and oxygen-poor blood as its basic measure.
PERSON:Tenille Johnson
fMRI
functional MRI
http://en.wikipedia.org/wiki/Functional_magnetic_resonance_imaging
functional magnetic resonance imaging
true
a laboratory test that has a blood specimen as specified input
John Judkins
Blood test
EuPathDB
blood test
https://www.webmd.com/epilepsy/guide/epilepsy-blood-test
true
https://www.ncbi.nlm.nih.gov/pubmed/22554135
fma
FMA:242176
Broca's area
https://www.epilepsydiagnosis.org/seizure/frontal-lobe-overview.html
true
true
https://www.ncbi.nlm.nih.gov/pubmed/17855377
Supracalacrine
fma
FMA:71055
Supracalcarine cortex (SCAL)
true
true
A multicellular organismal process carried out by any of the organs or tissues in an organ system. An organ system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a biological objective.
organ system process
biological_process
GO:0003008
system process
A organ system process carried out at the level of a muscle. Muscle tissue is composed of contractile cells or fibers.
biological_process
muscle physiological process
GO:0003012
muscle system process
A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis.
MIPS_funcat:36.25.09
Wikipedia:Muscle_contraction
biological_process
GO:0006936
muscle contraction
true
The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
GO:0023033
MIPS_funcat:30
Wikipedia:Signal_transduction
signaling cascade
signalling cascade
biological_process
signaling pathway
signalling pathway
GO:0007165
Note that signal transduction is defined broadly to include a ligand interacting with a receptor, downstream signaling steps and a response being triggered. A change in form of the signal in every step is not necessary. Note that in many cases the end of this process is regulation of the initiation of transcription. Note that specific transcription factors may be annotated to this term, but core/general transcription machinery such as RNA polymerase should not.
signal transduction
A series of molecular signals that proceeds with an activated receptor promoting the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, or for basal GPCR signaling the pathway begins with the receptor activating its G protein in the absence of an agonist, and ends with regulation of a downstream cellular process, e.g. transcription. The pathway can start from the plasma membrane, Golgi or nuclear membrane.
GO:0038042
https://www.ncbi.nlm.nih.gov/pubmed/26721354
MIPS_funcat:30.01.05.05
MIPS_funcat:30.05.02.24
G protein coupled receptor protein signaling pathway
G protein coupled receptor protein signalling pathway
G-protein coupled receptor protein signal transduction
G-protein coupled receptor protein signaling pathway
G-protein coupled receptor signalling pathway
G-protein-coupled receptor protein signalling pathway
GPCR signaling pathway
GPCR signalling pathway
G-protein coupled receptor signaling pathway via GPCR dimer
dimeric G-protein coupled receptor signaling pathway
dimeric G-protein coupled receptor signalling pathway
biological_process
GO:0007186
G protein-coupled receptor signaling pathway
true
The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity.
janelomax
2012-09-20T14:06:08Z
GO:0023032
GO:0044708
GO:0044709
Wikipedia:Behavior
behavioral response to stimulus
behaviour
behavioural response to stimulus
biological_process
single-organism behavior
GO:0007610
1. Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation reviews.
2. While a broader definition of behavior encompassing plants and single cell organisms would be justified on the basis of some usage (see PMID:20160973 for discussion), GO uses a tight definition that limits behavior to animals and to responses involving the nervous system, excluding plant responses that GO classifies under development, and responses of unicellular organisms that has general classifications for covering the responses of cells in multicellular organisms (e.g. cell chemotaxis).
behavior
The activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. The main stages involved in the formation and retrieval of memory are encoding (processing of received information by acquisition), storage (building a permanent record of received information as a result of consolidation) and retrieval (calling back the stored information and use it in a suitable way to execute a given task).
https://www.ncbi.nlm.nih.gov/pubmed/28089585
Wikipedia:Memory
biological_process
GO:0007613
memory
true
true
biological_process
A biological process represents a specific objective that the organism is genetically programmed to achieve. Biological processes are often described by their outcome or ending state, e.g., the biological process of cell division results in the creation of two daughter cells (a divided cell) from a single parent cell. A biological process is accomplished by a particular set of molecular functions carried out by specific gene products (or macromolecular complexes), often in a highly regulated manner and in a particular temporal sequence.
janelomax
2012-09-19T15:05:24Z
GO:0000004
GO:0007582
GO:0044699
Wikipedia:Biological_process
biological process
physiological process
biological_process
single organism process
single-organism process
GO:0008150
Note that, in addition to forming the root of the biological process ontology, this term is recommended for use for the annotation of gene products whose biological process is unknown. When this term is used for annotation, it indicates that no information was available about the biological process of the gene product annotated as of the date the annotation was made; the evidence code "no data" (ND), is used to indicate this.
biological_process
Any process that is carried out at the cellular level, but not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level.
janelomax
2012-12-11T16:56:55Z
GO:0008151
GO:0044763
GO:0050875
cell physiology
cellular physiological process
cell growth and/or maintenance
biological_process
single-organism cellular process
GO:0009987
cellular process
The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state.
GO:0007222
https://www.ncbi.nlm.nih.gov/pubmed/18976727
MIPS_funcat:30.05.02.20
Wg signaling pathway
Wg signalling pathway
Wingless signaling pathway
Wingless signalling pathway
Wnt receptor signaling pathway
Wnt receptor signalling pathway
frizzled signaling pathway
frizzled signalling pathway
biological_process
Wnt-activated signaling pathway
GO:0016055
Wnt signaling pathway
true
A biological process that directly contributes to the process of producing new individuals by one or two organisms. The new individuals inherit some proportion of their genetic material from the parent or parents.
janelomax
2012-09-19T15:56:06Z
GO:0044702
biological_process
single organism reproductive process
GO:0022414
reproductive process
A physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism.
biological_process
GO:0022600
digestive system process
The progression of physiological phases, occurring in the endometrium during the menstrual cycle that recur at regular intervals during the reproductive years. The menstrual cycle is an ovulation cycle where the endometrium is shed if pregnancy does not occur.
biological_process
GO:0022601
menstrual cycle phase
Any biological process, occurring at the level of a multicellular organism, pertinent to its function.
janelomax
2012-09-19T16:07:47Z
GO:0044707
GO:0050874
organismal physiological process
biological_process
single-multicellular organism process
GO:0032501
multicellular organismal process
The cyclic, physiologic discharge through the vagina of blood and endometrial tissues from the nonpregnant uterus.
Wikipedia:Menstruation
biological_process
GO:0042703
menstruation
true
The hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow.
https://www.ncbi.nlm.nih.gov/books/NBK2605/
Wikipedia:Erection#Penile_erection
biological_process
GO:0043084
penile erection
true
The process, occurring above the cellular level, that is pertinent to the reproductive function of a multicellular organism. This includes the integrated processes at the level of tissues and organs.
organismal reproductive process
reproductive process in a multicellular organism
biological_process
GO:0048609
multicellular organismal reproductive process
The behavior in which an organism sheds tears, often accompanied by non-verbal vocalizations and in response to external or internal stimuli.
cry
crying behavior
true
true
The process of biting and mashing food with the teeth prior to swallowing.
midori
2010-02-10T11:19:48Z
https://www.ncbi.nlm.nih.gov/pubmed/2782045
chewing
biological_process
GO:0071626
mastication
true
true
A series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway starts with reception of an intracellular signal (e.g. DNA damage, endoplasmic reticulum stress, oxidative stress etc.), and ends when the execution phase of apoptosis is triggered. The intrinsic apoptotic signaling pathway is crucially regulated by permeabilization of the mitochondrial outer membrane (MOMP).
paola
2011-11-23T09:40:50Z
GO:0008629
https://www.ncbi.nlm.nih.gov/pubmed/17371290
intrinsic apoptotic pathway
intrinsic apoptotic signalling pathway
mitochondrial-mediated apoptotic pathway
intrinsic apoptosis
biological_process
induction of apoptosis by intracellular signals
GO:0097193
The signals that start intrinsic apoptosis may come from extracellular sources (e.g. oxidative stress, UV exposure), but the reception of the signal and thus the signaling pathway start inside the cell (as a result of DNA damage, redox imbalance, etc.). Examples are ZPR9 (ZNF622) and ASK1 (MAP3K5) (UniProt symbols Q969S3 and Q99683) in PMID:21771788. A diagram of the intrinsic apoptotic pathway including examples of molecular players can be found in Figure 2 in PMID:21760595.
intrinsic apoptotic signaling pathway
true
Dysfunction of the urinary bladder.
HP:0004424
HP:0008731
UMLS:C3806583
Poor bladder function
human_phenotype
HP:0000009
Functional abnormality of the bladder
An abnormality of the urinary bladder.
UMLS:C0149632
human_phenotype
HP:0000014
Abnormality of the bladder
An abnormality of the urinary system.
UMLS:C4021821
Urinary tract abnormalities
Urinary tract abnormality
Urinary tract anomalies
human_phenotype
HP:0000079
Abnormality of the urinary system
A phenotypic abnormality.
UMLS:C4021819
Organ abnormality
human_phenotype
HP:0000118
This is the root of the phenotypic abnormality subontology of the HPO.
Phenotypic abnormality
The presence of any abnormality of the genitourinary system.
HP:0008658
HP:0008688
HP:0008704
HP:0008713
MSH:D014564
SNOMEDCT_US:287085006
SNOMEDCT_US:42030000
UMLS:C0042063
UMLS:C0080276
UMLS:C4020895
Abnormality of the GU system
Genitourinary abnormality
Genitourinary tract anomalies
Genitourinary tract malformation
Urogenital abnormalities
Urogenital anomalies
human_phenotype
Genitourinary disease
Genitourinary dysplasia
HP:0000119
Abnormality of the genitourinary system
An abnormality of head and neck.
UMLS:C4021817
Abnormality of head or neck
Head and neck abnormality
human_phenotype
HP:0000152
Abnormality of head or neck
An abnormality of the mouth.
MSH:D009056
SNOMEDCT_US:128334002
UMLS:C0026633
Abnormal mouth
Abnormality of the mouth
human_phenotype
HP:0000153
Abnormality of the mouth
An abnormality of the head.
UMLS:C4021812
Abnormal head
Abnormality of the head
Head abnormality
human_phenotype
HP:0000234
Abnormality of the head
An abnormality of the face.
Abnormality of the countenance
Abnormality of the physiognomy
Abnormality of the visage
Disorder of face
SNOMEDCT_US:118930001
SNOMEDCT_US:32003007
SNOMEDCT_US:398206004
SNOMEDCT_US:398302004
UMLS:C0266617
UMLS:C1290857
UMLS:C4025871
Abnormal face
Abnormality of the face
Facial abnormality
Disorder of the face
human_phenotype
Anomaly of face
Anomaly of the face
Facial anomaly
HP:0000271
Abnormality of the face
An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve).
UMLS:C4025865
Abnormality of facial muscles
Facial muscle issue
human_phenotype
HP:0000301
Facial muscles control facial expression and are innervated by the seventh cranial nerve. Facial muscles around the eye are responsible for eye blink and eyelid closure.
Abnormality of facial musculature
HP:0000284
UMLS:C4025863
Abnormality of the eye region
Abnormality of the region around the eyes
Anomaly of the orbital region of the face
Deformity of the orbital region of the face
Malformation of the orbital region of the face
human_phenotype
HP:0000315
Abnormality of the orbital region
Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
HP:0004651
https://www.ncbi.nlm.nih.gov/pubmed/29961525
MSH:D005155
SNOMEDCT_US:1070000
UMLS:C0270871
Involuntary facial contraction
Involuntary facial quivering
human_phenotype
HP:0000317
Facial myokymia may be caused by a plaque of multiple sclerosis or have other causes.
Facial myokymia
true
true
An abnormality of the sensory perception of sound.
UMLS:C4025860
Abnormal hearing
Hearing abnormality
human_phenotype
HP:0000364
According to the World Health Organization, deafness refers to the complete loss of hearing ability in one or two ears. Hearing impairment refers to both complete and partial loss of the ability to hear.
Hearing abnormality
A decreased magnitude of the sensory perception of sound.
HP:0000404
HP:0001728
HP:0001729
HP:0001754
HP:0008560
HP:0008563
Fyler:4868
MSH:D003638
MSH:D034381
SNOMEDCT_US:103276001
SNOMEDCT_US:15188001
SNOMEDCT_US:343087000
SNOMEDCT_US:95828007
UMLS:C0011053
UMLS:C0018772
UMLS:C0339789
UMLS:C1384666
Congenital deafness
Congenital hearing loss
Deafness
Hearing defect
Hearing impairment
human_phenotype
Hearing loss
Hypoacusis
HP:0000365
Hearing loss can be categorized by which part of the auditory system is damaged, as conductive hearing loss, sensorineural hearing loss, and mixed hearing loss. Another axis of classification uses the degree of hearing impairment. The degree of hearing loss is computed by using a three frequency average taken at 500 Hz, 1,000 Hz and 2,000 Hz. The average of these three frequencies is called the Pure Tone Average (PTA). 0-20 dB is considered normal, 21-40 dB mild loss, 41-60 dB moderate loss, 61-70 dB moderately severe loss,71-90 dB severe loss, and greater than 90 dB profound loss. Note that the word deafness is occasionally used to describe partial hearing loss. The World Health Organization uses the word deafness to refer to complete loss of the ability to hear, and hearing impairment to refer to any degree of reduced hearing.
Hearing impairment
https://rarediseases.org/rare-diseases/progressive-myoclonus-epilepsy/
true
Any abnormality of the eye, including location, spacing, and intraocular abnormalities.
MSH:D005124
MSH:D005128
SNOMEDCT_US:19416009
SNOMEDCT_US:371405004
SNOMEDCT_US:371409005
UMLS:C0015393
UMLS:C0015397
Abnormal eye
Abnormality of the eye
human_phenotype
Eye disease
HP:0000478
Abnormality of the eye
An abnormality in voluntary or involuntary eye movements or their control.
HP:0006860
https://www.ncbi.nlm.nih.gov/pubmed/12365699
SNOMEDCT_US:103252009
UMLS:C0497202
Abnormal extraocular movement
Abnormal extraocular movements
Abnormal eye motility
Abnormal eye movement
Abnormal eye movements
Abnormal motility of the globe of the eye
Abnormal movement of the globe of the eye
Abnormal ocular movements
Abnormality of eye movement
Eye movement abnormalities
Eye movement issue
Ocular movement abnormalities
Oculomotor abnormalities
human_phenotype
HP:0000496
Abnormality of eye movement
true
Abnormality of eyesight (visual perception).
UMLS:C4025846
Abnormality of sight
Abnormality of vision
Vision issue
human_phenotype
HP:0000504
Abnormality of vision
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
HP:0000516
HP:0000566
HP:0007758
HP:0007860
HP:0007983
MSH:D014786
MSH:D015354
SNOMEDCT_US:246635007
SNOMEDCT_US:397540003
SNOMEDCT_US:7973008
UMLS:C0042798
UMLS:C3665347
Impaired vision
Loss of eyesight
Poor vision
Visual impairment
human_phenotype
HP:0000505
Visual impairment
Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object.
https://www.ncbi.nlm.nih.gov/pubmed/?term=%27Abnormal+conjugate+eye+movement%27+epilepsy
UMLS:C1845274
Disconjugate eye movements
human_phenotype
HP:0000549
Abnormal conjugate eye movement
true
true
An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements.
HP:0000604
UMLS:C1842584
UMLS:C4025841
Abnormality of saccadic eye movements
human_phenotype
Impaired saccades
HP:0000570
Fast (saccadic) eye movements comprise voluntary or involuntary refixation movements, the fast phase of vestibular nystagmus, optokinetic nystagmus, and microsaccades.
Abnormal saccadic eye movements
true
Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.
SNOMEDCT_US:246768008
UMLS:C0423082
human_phenotype
HP:0000571
Hypometric saccades
An abnormality of the ear.
SNOMEDCT_US:275259005
UMLS:C0266589
Abnormality of the ear
Ear anomaly
human_phenotype
HP:0000598
Either a morphological abnormality or hearing deficit. This should be split more cleanly in the future.
Abnormality of the ear
An abnormality of the nervous system.
HP:0001333
HP:0006987
Brain and/or spinal cord issue
MSH:D009421
SNOMEDCT_US:88425004
UMLS:C0497552
Abnormality of the nervous system
Neurologic abnormalities
Neurological abnormality
human_phenotype
HP:0000707
The nervous system comprises the neuraxis (brain, spinal cord, and ventricles), the autonomic nervous system, the enteric nervous system, and the peripheral nervous system.
Abnormality of the nervous system
An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.
HP:0000715
HP:0002368
HP:0002456
MSH:D000066553
MSH:D001526
SNOMEDCT_US:25786006
SNOMEDCT_US:277843001
UMLS:C0004941
UMLS:C0233514
Behavioral abnormality
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural abnormality
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
human_phenotype
Behavioral symptoms
HP:0000708
Behavioral abnormality
Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or out of proportion to events and circumstances.
HP:0008766
https://www.ncbi.nlm.nih.gov/pubmed/8441366
SNOMEDCT_US:18963009
UMLS:C0085633
Emotional instability
human_phenotype
HP:0000712
Emotional lability
true
Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior.
https://www.ncbi.nlm.nih.gov/pubmed/17260039
https://www.ncbi.nlm.nih.gov/pubmed/20301709
https://www.ncbi.nlm.nih.gov/pubmed/28139515
MSH:D003866
SNOMEDCT_US:21061000119107
SNOMEDCT_US:35489007
SNOMEDCT_US:78667006
UMLS:C0011581
Depression
human_phenotype
Depressive disorder
HP:0000716
Depressivity
true
true
A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral.
HP:0008758
HP:0008759
https://www.ncbi.nlm.nih.gov/pubmed/29791879
MSH:D013239
MSH:D019956
SNOMEDCT_US:5507002
SNOMEDCT_US:84328007
UMLS:C0038271
UMLS:C0038273
Stereotypies (or mannerisms) are repetitive movements, postures, or utterances that may be simple (such as body rocking, head banging) or complex (such as finger movements or wrist flexion/extension). They may be primary (seen in otherwise normal individuals) or secondary (associated with autism, intellectual impairment and other disorders). Stereotypies can be distinguished from epileptic automatisms by the characteristic movements (a video of events can be helpful to aid diagnosis).
Repetitive movements
Repetitive or self-injurious behavior
Stereotyped behavior
Stereotyped, repetitive behaviour
Stereotypic behavior
Stereotypic behaviors
Stereotypical motor behaviors
Sterotyped behavior
human_phenotype
Stereotyped behaviors
HP:0000733
An abnormality of behavior characterized by one or more stereotyped and restricted patterns of behavior such as inflexible adherence to specific, nonfunctional routines or rituals, stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements), or persistent preoccupation with parts of objects. The behaviour does not serve an observable goal. In general the movements are not aimed at the environment, but at the person itself. Stereotypical behaviour is seen especially in children with sensory, intellectual and/or cognitive handicaps.
Stereotypy
true
true
Stereotypies (or mannerisms) are repetitive movements, postures, or utterances that may be simple (such as body rocking, head banging) or complex (such as finger movements or wrist flexion/extension). They may be primary (seen in otherwise normal individuals) or secondary (associated with autism, intellectual impairment and other disorders). Stereotypies can be distinguished from epileptic automatisms by the characteristic movements (a video of events can be helpful to aid diagnosis).
https://www.epilepsydiagnosis.org/epilepsy-imitators.html#stereotypies
Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible.
MSH:D004775
SNOMEDCT_US:8009008
UMLS:C0014394
human_phenotype
HP:0000805
Enuresis
An abnormality of the endocrine system.
MSH:D004700
SNOMEDCT_US:362969004
UMLS:C0014130
UMLS:C4025823
human_phenotype
Endocrine system disease
HP:0000818
The endocrine system is composed of glands that secrete hormones directly into the bloodstream and includes the following glands: thyroid, parathyroids, adrenals, pancreas, gonads (testicles and ovaries), and pituitary. Many other organs, such as the kidney, liver, and heart, have secondary endocrine functions.
Abnormality of the endocrine system
The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.
https://www.ncbi.nlm.nih.gov/pubmed/13365719
https://www.ncbi.nlm.nih.gov/pubmed/30838190
MSH:D011629
SNOMEDCT_US:123527003
SNOMEDCT_US:400179000
UMLS:C0034013
Early onset of puberty
Early puberty
human_phenotype
HP:0000826
Precocious puberty
http://www.case.edu/EpSO.owl#PrecociousPuberty
true
true
An abnormality of the skeletal system.
UMLS:C4021790
Abnormality of the skeletal system
Skeletal abnormalities
Skeletal anomalies
human_phenotype
HP:0000924
Abnormality of the skeletal system
An abnormality of the skin.
HP:0001478
HP:0001479
HP:0005591
HP:0006736
HP:0007415
HP:0007580
MSH:D012868
MSH:D012871
SNOMEDCT_US:199879009
SNOMEDCT_US:95320005
UMLS:C0037268
UMLS:C0037274
Abnormality of the skin
dermatopathy
dermopathy
human_phenotype
Skin abnormality
HP:0000951
Abnormality of the skin
Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin.
HP:0001068
MSH:D001821
MSH:D012393
SNOMEDCT_US:20255002
SNOMEDCT_US:271811009
SNOMEDCT_US:398909004
UMLS:C0005874
UMLS:C0035854
UMLS:C0239488
UMLS:C4020880
Blushed cheeks
Blushing
Red face
Red in the face
Rosacea
human_phenotype
Ruddy face
HP:0001041
Facial erythema
true
https://www.ncbi.nlm.nih.gov/pubmed/29172092
SNOMEDCT_US:12184005
UMLS:C3887875
Partial loss of field of vision
Visual field defects
human_phenotype
HP:0001123
Visual field defect
true
Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.
https://www.ncbi.nlm.nih.gov/pubmed/31603835
MSH:D010291
SNOMEDCT_US:127377003
SNOMEDCT_US:20022000
UMLS:C0018989
Weakness of one side of body
human_phenotype
HP:0001269
Hemiparesis
true
true
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
HP:0002388
https://www.ncbi.nlm.nih.gov/pubmed/27188686
MSH:D009122
SNOMEDCT_US:41581000
SNOMEDCT_US:56731001
UMLS:C0026826
Hypertonicity
Increased muscle tone
Spasticity and rigidity of muscles
human_phenotype
Muscle hypertonia
HP:0001276
Spasticity is a term that is often used interchangeably with hypertonia. Spasticity, however, is a particular type of hypertonia in which the muscles' spasms are increased by movement. In this type, patients usually have exaggerated reflex responses.
Hypertonia
true
true
Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.
peter
2008-02-25T10:37:00Z
MSH:D013575
SNOMEDCT_US:271594007
SNOMEDCT_US:272030005
SNOMEDCT_US:309585006
UMLS:C0039070
Fainting spell
human_phenotype
Syncope and anoxic seizures
HP:0001279
Syncope
https://www.epilepsydiagnosis.org/epilepsy-imitators.html#syncope
true
An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations.
HP:0002531
HP:0003129
UMLS:C4021781
Neurophysiologic abnormalities
Neurophysiologic abnormality
human_phenotype
Electrophysiological Data
HP:0001311
Abnormal nervous system electrophysiology
http://www.case.edu/EpSO.owl#ElectrophysiologicalData
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
HP:0002535
HP:0007087
Jerking
MSH:D009207
SNOMEDCT_US:127324008
SNOMEDCT_US:17450006
UMLS:C0027066
UMLS:C1854302
Myoclonic jerks
myoclonic contraction
myoclonic jerk
human_phenotype
Involuntary jerking movements
HP:0001336
Myoclonus may be synchronous (several muscle contracting simultaneously), spreading (several muscles contracting in sequence), or asynchronous (several muscles contracting with varying and unpredictable relative timing). Myoclonus is characterized by sudden unidirectional movement due to muscle contraction (positive myoclonus) or due to sudden brief muscle relaxation (negative myoclonus).
Myoclonus
true
Hemorrhage into the parenchyma of the brain.
HP:0002137
https://www.ncbi.nlm.nih.gov/pubmed/2761703
MSH:D002543
MSH:D020300
SNOMEDCT_US:230706003
SNOMEDCT_US:274100004
UMLS:C0553692
UMLS:C2937358
Bleeding in brain
Cerebral haemorrhage
Intracerebral hemorrhage
human_phenotype
Hemorrhagic stroke
HP:0001342
A cerebral hemorrhage (or intracerebral hemorrhage, ICH), is a type of intracranial hemorrhage that occurs within the brain tissue itself.
Cerebral hemorrhage
http://www.case.edu/EpSO.owl#CerebralHemorrhage
true
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
HP:0001372
HP:0001381
HP:0005053
HP:0005189
HP:0005660
MSH:D003286
SNOMEDCT_US:203598005
SNOMEDCT_US:385522000
SNOMEDCT_US:55033002
SNOMEDCT_US:57048009
SNOMEDCT_US:7890003
SNOMEDCT_US:88565003
UMLS:C0009917
UMLS:C0009918
UMLS:C0333068
UMLS:C1850530
Contracture
Flexed joint that cannot be straightened
Flexion contractures
Flexion contractures of joints
Joint contracture
Joint contractures
human_phenotype
Contractures
HP:0001371
Flexion contracture
true
HP:0008904
UMLS:C0262361
Abnormal growth
Growth abnormality
Growth issue
human_phenotype
HP:0001507
Growth abnormality
Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
HP:0001422
HP:0008849
HP:0008919
HP:0008927
MSH:D007230
SNOMEDCT_US:267258002
SNOMEDCT_US:276610007
UMLS:C0024032
UMLS:C0235991
Birth weight less than 10th percentile
Low birth weight
Small for gestational age
human_phenotype
HP:0001518
Small for gestational age
https://www.epilepsy.com/learn/about-epilepsy-basics/what-are-risk-factors
true
An abnormality of the integument, which consists of the skin and the superficial fascia.
UMLS:C4025761
human_phenotype
HP:0001574
Abnormality of skin, hair, or nails.
Abnormality of the integument
Any abnormality of the cardiovascular system.
MSH:D002318
MSH:D018376
SNOMEDCT_US:49601007
UMLS:C0007222
UMLS:C0243050
Abnormality of the cardiovascular system
Cardiovascular abnormality
human_phenotype
Cardiovascular disease
HP:0001626
The cardiovascular system consists of the heart, vasculature, and the lymphatic system.
Abnormality of the cardiovascular system
An abnormality of the hematopoietic system.
HP:0003135
MSH:D006402
SNOMEDCT_US:191124002
SNOMEDCT_US:34093004
UMLS:C0018939
UMLS:C0850715
UMLS:C4020864
Abnormality of blood and blood-forming tissues
Abnormality of the hematopoietic system
Hematological abnormality
human_phenotype
Abnormality of the haematopoietic system
Hematologic disease
HP:0001871
The hematopoietic system comprises the organs that are involved in the production of blood, primarily the bone marrow, spleen, tonsils, and lymph nodes.
Abnormality of blood and blood-forming tissues
An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
HP:0004830
HP:0004834
HP:0004849
HP:0004862
HP:0004865
HP:0008183
SNOMEDCT_US:248250000
SNOMEDCT_US:64779008
UMLS:C1458140
Bleeding diathesis
Bleeding tendency
Hemorrhagic diathesis
human_phenotype
HP:0001892
This term is kept for historical reasons. If possible, a more exact description of the phenotype (i.e., whether there is a vascular, platelet and coagulation defect) should be attempted.
Abnormal bleeding
HP:0002146
HP:0004355
HP:0004367
UMLS:C4021768
Laboratory abnormality
Metabolism abnormality
human_phenotype
HP:0001939
Abnormality of metabolism/homeostasis
Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).
UMLS:C4025731
Abnormal blood clot
Abnormal blood clotting
human_phenotype
HP:0001977
Abnormal thrombosis
An abnormal morphology (form) of the face or its components.
HP:0002004
HP:0002260
HP:0004643
HP:0004649
HP:0004652
HP:0004655
HP:0004675
HP:0005124
Deformity of face
Malformation of face
https://www.ncbi.nlm.nih.gov/pubmed/26864574
SNOMEDCT_US:248200007
SNOMEDCT_US:32003007
SNOMEDCT_US:398206004
SNOMEDCT_US:398302004
UMLS:C0266617
UMLS:C0424503
UMLS:C1385263
UMLS:C4072832
UMLS:C4072833
Abnormal facial shape
Abnormal morphology of the face
Distinctive facies
Dysmorphic facial features
Dysmorphic facies
Facial dysmorphism
Unusual facial appearance
Unusual facies
human_phenotype
Distortion of face
Funny looking face
HP:0001999
This term now covers many of the historical inexact descriptions such as Bird-like facies that probably should be avoided in modern genetics. This portion of the Ontology should be revised.
Abnormal facial shape
https://www.mendelian.co/symptoms/abnormal-facial-shape-and-polymicrogyria
true
true
A structural abnormality of the central nervous system.
HP:0002405
HP:0002413
HP:0002481
HP:0007319
MSH:D002493
SNOMEDCT_US:23853001
UMLS:C0007682
UMLS:C4021765
Abnormality of the central nervous system
Morphological abnormality of the CNS
human_phenotype
Central nervous system disease
HP:0002011
Morphological abnormality of the central nervous system
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
https://www.ncbi.nlm.nih.gov/pubmed/30118929
MEDDRA:10047700
MSH:D014839
SNOMEDCT_US:249497008
SNOMEDCT_US:300359004
SNOMEDCT_US:422400008
UMLS:C0042963
Emesis
Throwing up
Vomiting
human_phenotype
HP:0002013
Vomiting
true
true
SNOMEDCT_US:16932000
UMLS:C0027498
Nausea and vomiting
human_phenotype
HP:0002017
Nausea and vomiting
Generalized tonic-clonic seizures are generalized seizures with bilateral symmetrical tonic contraction then bilateral clonic contractions of somatic muscles usually associated with autonomic phenomena.
HP:0001306
HP:0002407
HP:0007252
MSH:D012640
SNOMEDCT_US:54200006
UMLS:C0494475
Generalized tonic-clonic seizures are bilateral and symmetric generalized motor seizures, that occur in an individual with loss of consciousness. The tonic-clonic seizure consists of a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase, typically in this order, however variations such as clonic-tonic-clonic and myoclonic-tonic-clonic can also occur.
Generalised tonic-clonic seizures
Generalized clonic-tonic seizures
Generalized tonic clonic seizures
Grand mal seizures
Seizures, generalized tonic-clonic
Seizures, generalized, tonic-clonic
Seizures, tonic-clonic
Tonic-clonic convulsion
Tonic-clonic convulsions
human_phenotype
HP:0002069
In a generalized tonic-clonic seizure, the patient suddenly loses conciousness, the eyes roll back, and the entire body musculature undergoes tonic contractions. In the clonic phase of the seizure, there are rhythmic contractions of the musculature alternating with relaxation of all muscle groups. Loss of sphincter control during the seizure is common. This form of seizure was formerly commonly called grand mal seizure.
Generalized tonic-clonic seizures
true
Generalized tonic-clonic seizures are bilateral and symmetric generalized motor seizures, that occur in an individual with loss of consciousness. The tonic-clonic seizure consists of a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase, typically in this order, however variations such as clonic-tonic-clonic and myoclonic-tonic-clonic can also occur.
https://www.epilepsydiagnosis.org/seizure/tonic-clonic-variants-overview.html
An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.
UMLS:C4018871
Respiratory abnormality
human_phenotype
HP:0002086
Abnormality of the respiratory system
Seizures with sudden, brief (< 100 msec) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal).
HP:0006869
HP:0006902
HP:0007075
HP:0007202
HP:0007284
HP:0007294
Myoclonic seizures
MSH:D004831
MSH:D020191
SNOMEDCT_US:192992007
SNOMEDCT_US:267581004
SNOMEDCT_US:37356005
UMLS:C0014550
UMLS:C0751778
UMLS:C4021759
A myoclonic seizure is a single or series of jerks (brief muscle contractions). Each jerk is typically milliseconds in duration. Myoclonic status epilepticus is characterized by ongoing (> 30 minutes) irregular jerking, often with partially retained awareness. These two features distinguish a myoclonic status epilepticus from a generalized clonic seizure, where consciousness is lost and the jerking is sustained and rhythmic.
Generalised myoclonic seizures
Myoclonus seizures
human_phenotype
Myoclonic epilepsy, progressive
HP:0002123
Generalized myoclonic seizures
true
A myoclonic seizure is a single or series of jerks (brief muscle contractions). Each jerk is typically milliseconds in duration. Myoclonic status epilepticus is characterized by ongoing (> 30 minutes) irregular jerking, often with partially retained awareness. These two features distinguish a myoclonic status epilepticus from a generalized clonic seizure, where consciousness is lost and the jerking is sustained and rhythmic.
https://www.epilepsydiagnosis.org/seizure/myoclonic-overview.html
Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).
MSH:D065706
SNOMEDCT_US:4945003
UMLS:C0266464
Polymicrogyria is a common malformation of cortical development, where there is abnormal layering, excessive gyration (folding), and gyral fusion in the cerebral cortex. Polymicrogyria may be bilateral, or less commonly unilateral. It occurs most frequently in the perisylvian cortex (80%) and can result in the Sylvian fissure having an abnormal extension and orientation.
More grooves in brain
human_phenotype
HP:0002126
Polymicrogyria, one of the most common malformations of cortical development, is characterized histologically by the appearance of an excessive number of small cortical folds, often fused together, with disordered cortical lamination.
Polymicrogyria
true
Polymicrogyria is a common malformation of cortical development, where there is abnormal layering, excessive gyration (folding), and gyral fusion in the cerebral cortex. Polymicrogyria may be bilateral, or less commonly unilateral. It occurs most frequently in the perisylvian cortex (80%) and can result in the Sylvian fissure having an abnormal extension and orientation.
https://www.epilepsydiagnosis.org/aetiology/polymicrogyria-overview.html
Status epilepticus is a type of prolonged seizure. The definition is based on both the length of the seizure and the time point (t1) beyond which the seizure should be regarded as continuous seizure activity. The second time point (t2) is the time of ongoing seizure activity after which there is a risk of long-term consequences. See the comment for information on t1 and t2.
MSH:D013226
SNOMEDCT_US:230456007
UMLS:C0038220
Repeated seizures without recovery between them
human_phenotype
HP:0002133
In 2015 the ILAE Task Force on Classification of Status Epilepticus concluded that the evidence to define time points 1 and 2 in humans was incomplete. For tonic-clonic status epilepticus t1 is defined as 5 minutes and t2 as 30 minutes. For focal status epilepticus with impaired consciousness t1 is defined as 10 minutes and t2 over 60 minutes. For absence status epilepticus t1 is defined as 10-15 minutes and t2 is unknown. Status epilepticus is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.
Status epilepticus
Hemorrhage occurring between the arachnoid mater and the pia mater.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2744032/
MSH:D013345
SNOMEDCT_US:21454007
UMLS:C0038525
Subarachnoid (aneurysmal) Hemorrhage
Subarachnoid haemorrhage
human_phenotype
HP:0002138
Bleeding into the subarachnoid space the area between the arachnoid membrane and the pia mater surrounding the brain. Subarachnoid hemorrhage may occur spontaneously, usually from a ruptured cerebral aneurysm, or may result from head injury.
Subarachnoid hemorrhage
http://www.case.edu/EpSO.owl#SubarachnoidHemorrhage
true
MSH:D013064
UMLS:C0037822
Speech disorder
Speech impairment
Speech impediment
human_phenotype
HP:0002167
Neurological speech impairment
Hemorrhage occurring within the skull.
MSH:D020300
SNOMEDCT_US:1386000
UMLS:C0151699
Bleeding within the skull
Intracranial haemorrhage
human_phenotype
HP:0002170
Intracranial hemorrhage
A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.
UMLS:C1843921
Balance impairment
human_phenotype
Abnormal retropulsion test
Imbalance
HP:0002172
Postural instability
https://www.epilepsy.com/learn/types-seizures/atonic-seizures
true
true
Seizures of with initial involvement of both cerebral hemispheres.
HP:0002409
HP:0007114
HP:0007339
MSH:D012640
SNOMEDCT_US:246545002
UMLS:C0234533
UMLS:C1833488
A generalized seizure is conceptualized as originating at some point within, and rapidly engaging, bilaterally distributed networks. Such bilateral networks can include cortical and subcortical structures, but do not necessarily include the entire cortex. Although individual seizure onsets can appear localized, the location and lateralization are not consistent from one seizure to another.
Generalized seizures
Generalized-onset seizures
human_phenotype
HP:0002197
Generalized seizures are sub-categorized into several major types: generalized tonic clonic; myoclonic; absence; and atonic.
Generalized-onset seizure
true
A generalized seizure is conceptualized as originating at some point within, and rapidly engaging, bilaterally distributed networks. Such bilateral networks can include cortical and subcortical structures, but do not necessarily include the entire cortex. Although individual seizure onsets can appear localized, the location and lateralization are not consistent from one seizure to another.
https://www.epilepsydiagnosis.org/seizure/generalized-seizure-groupoverview.html
A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.
MSH:D020938
UMLS:C0752323
The movement involves sustained rhythmic jerking, this may involve a distal limb, one limb or one side of the body. The jerking may spread to involve parts of the body according to their representation on the motor cortex (according to the homunculus), this is known as a Jacksonian march.
Focal clonic seizures
Localised clonic seizure
Localized clonic seizure
Partial clonic seizure
Segmental clonic seizure
human_phenotype
HP:0002266
The movement involves sustained rhythmic jerking, this may involve a limb, half the face or one side of the body, and may spread according to a Jacksonian march: The jerking may spread to involve parts of the body according to their representation on the motor cortex (according to the homunculus).
Focal clonic seizure
http://www.medlink.com/article/focal_clonic_seizures
true
true
The movement involves sustained rhythmic jerking, this may involve a distal limb, one limb or one side of the body. The jerking may spread to involve parts of the body according to their representation on the motor cortex (according to the homunculus), this is known as a Jacksonian march.
https://www.epilepsydiagnosis.org/seizure/motor-overview.htm
Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.
HP:0002281
HP:0007314
MSH:D002828
SNOMEDCT_US:128490007
SNOMEDCT_US:416286003
SNOMEDCT_US:417338002
UMLS:C0008519
Grey matter heterotopia is a malformation of cortical development, where cortical cells (grey matter) are present in inappropriate locations in the brain, due to interruption in their migration to their correct location in the cerebral cortex. Grey matter heterotopia may be unilateral or bilateral, singular or multiple, separate or contiguous.
Gray matter heterotopias
Grey matter heterotopia
Heterotopia
Heterotopias
Neuronal heterotopia
human_phenotype
HP:0002282
Gray matter heterotopia is caused by clumps of grey matter being located in the wrong part of the brain. It is characterized as a type of cortical malformation. The neurons in heterotopia may appear to be normal, except for their mislocation; nuclear studies have shown glucose metabolism equal to that of normally positioned gray matter. The condition causes a variety of symptoms, but usually includes some degree of epilepsy or recurring seizures, and often affects the brain's ability to function on higher levels. Symptoms range from nonexistent to profound, in which case heterotopia can result in severe seizure disorder, loss of motor skills, and mental retardation. Neuronal heterotopia consists of grey matter within the white matter, and the term grey matter heterotopia is more frequently used.
Gray matter heterotopia
true
Grey matter heterotopia is a malformation of cortical development, where cortical cells (grey matter) are present in inappropriate locations in the brain, due to interruption in their migration to their correct location in the cerebral cortex. Grey matter heterotopia may be unilateral or bilateral, singular or multiple, separate or contiguous.
https://www.epilepsydiagnosis.org/aetiology/grey-matter-heterotopia-overview.html
Habitual flow of saliva out of the mouth.
https://www.ncbi.nlm.nih.gov/pubmed/30125861
MSH:D012798
SNOMEDCT_US:275295002
SNOMEDCT_US:53827007
SNOMEDCT_US:62718007
UMLS:C0013132
UMLS:C0037036
Dribbling
Drooling
Sialorrhea
human_phenotype
HP:0002307
Drooling
true
true
Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.
HP:0000266
HP:0001354
https://www.ncbi.nlm.nih.gov/books/NBK2605/
MSH:D006261
SNOMEDCT_US:25064002
UMLS:C0018681
Headache
Headaches
human_phenotype
HP:0002315
Headache is one of the most common types of recurrent pain as well as one of the most frequent symptoms in neurology. In addition to occasional headaches, there are well-defined headache disorders that vary in incidence, prevalence and duration and can be divided into two broad categories. In secondary headache disorders, headaches are attributed to another condition, such as brain tumour or head injury; for the primary disorders the headache is not due to another condition.
Headache
https://www.epilepsy.com/learn/about-epilepsy-basics/what-happens-during-seizure
true
true
true
Excessive daytime sleepiness.
https://www.ncbi.nlm.nih.gov/books/NBK2605/
MSH:D012894
SNOMEDCT_US:271782001
SNOMEDCT_US:79519003
UMLS:C0013144
Drowsiness
Sleepy
human_phenotype
HP:0002329
Drowsiness
true
true
A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile.
MSH:D004828
SNOMEDCT_US:117891000119100
SNOMEDCT_US:79348005
UMLS:C0234974
Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile. If awareness is preserved, the seizure is a focal aware seizure. Previously this seizure type was known as a simple partial seizure.
Focal aware seizures
Focal seizure with retained awareness
Focal seizure without impairment of awareness
Focal seizure without impairment of consciousness or awareness
Focal seizures without impairment of consciousness or awareness
Partial seizure with retained awareness
Partial seizure without impairment of awareness
Simple partial seizure
Simple partial seizures
human_phenotype
HP:0002349
In the previous (1981) ILAE classification of seizure types, the term 'simple partial seizure' was used to denote a focal aware seizure. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile. If awareness is preserved throughout, then the seizure is a focal aware seizure. Previously the terms simple partial was used to describe focal aware seizures.
Focal aware seizure
true
Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile. If awareness is preserved, the seizure is a focal aware seizure. Previously this seizure type was known as a simple partial seizure.
https://www.epilepsydiagnosis.org/seizure/aware-overview.html
Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.
HP:0001346
HP:0002429
HP:0006841
https://www.ncbi.nlm.nih.gov/pubmed/12199726
SNOMEDCT_US:274521009
UMLS:C0151611
Abnormal EEG
Abnormal electroencephalogram
EEG abnormalities
Electroencephalogram abnormal
Electroencephalogram abnormalities
human_phenotype
HP:0002353
EEG abnormality
true
A type of focal-onset saeizure characterized by impaired awareness. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile. If awareness is impaired at any point during the seizure, the seizure is a focal impaired awareness seizure. The degree of loss of awareness may vary.
HP:0002278
HP:0011146
SNOMEDCT_US:4103001
UMLS:C0149958
UMLS:C0270834
If awareness is impaired at any point during the seizure, the seizure is a focal impaired awareness seizure. The degree of loss of awareness may vary. The terms complex partial seizure and focal dyscognitive seizure were previously used to denote a focal impaired awareness seizure.
Complex focal seizures
Complex partial seizures
DialepticSeizure
Dyscognitive seizures
Focal impaired awareness seizures
Focal seizures with impairment of consciousness or awareness
human_phenotype
Dialeptic seizure
HP:0002384
In the previous (1981) ILAE classification of seizure types, the term 'complex partial seizure' was used to denote a focal impaired awareness seizure. The term Dialeptic seizure referred to seizures that have as their main ictal manifestations an alteration of consciousness that is independent of ictal EEG manifestations. The term is no longer recommended according to the 2017 ILAE seizure classification.
Focal impaired awareness seizure
http://www.case.edu/EpSO.owl#DialepticSeizure
true
If awareness is impaired at any point during the seizure, the seizure is a focal impaired awareness seizure. The degree of loss of awareness may vary. The terms complex partial seizure and focal dyscognitive seizure were previously used to denote a focal impaired awareness seizure.
https://www.epilepsydiagnosis.org/seizure/focal-impaired-awareness-overview.html
The presence of complexes of repetitive spikes and waves in EEG.
UMLS:C4021757
EEG: spike and multispike waves, 3-4 hz
electroencephalogram with polyspike wave complex
human_phenotype
Polyspike-and-Slow-Wave Complex
HP:0002392
EEG with polyspike wave complexes
true
Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle.
MSH:D020385
SNOMEDCT_US:27678003
UMLS:C0684219
human_phenotype
HP:0002411
Myokymia is characterized electrophysiologically by rhythmic or semi-rhythmic bursts of a single motor unit discharging several times a second at a rate of 3-8 Hz. These myokymic discharges are nonsynchronous in different muscles or even in the same muscle, with intervals of 100-200 milliseconds separating individual bursts. The spontaneous discharges are not initiated by voluntary movement, although they may increase with such activity.
Myokymia
The presence of a hamartoma of the hypothalamus.
MSH:C537158
SNOMEDCT_US:237714006
UMLS:C0342418
Hypothalamic hamartomas are rare malformations of fetal brain development, affecting development of the hypothalamus, and are placed within the spectrum of grey matter heterotopia. Pathologically, lesions show mature neuronal and glial cells and some myelinated fibres.
human_phenotype
Hamartoma
HP:0002444
Hypothalamic hamartoma is a malformation, not a tumor. Hypothalamic hamartomas grow at the rate of, or slower than, the surrounding brain tissue. A hamartoma of the hypothalamus appears as a non-enhancing mass in the floor of the third ventricle posterior to the optic chiasm that is isointense to grey matter on T1 and T2 pulse sequences of an MRI, but may have distinct intensity on FLAIR (neither cranial CT examination nor cranial ultrasound examination is adequate for diagnosis of hypothalamic hamartom). Individuals with hypothalamic hamartomas may have neurologic symptoms, although most are asymptomatic. Removal of the hypothalamic hamartoma is not indicated and often results in iatrogenic pituitary insufficiency.
Hypothalamic hamartoma
http://www.case.edu/EpSO.owl#Hamartoma
http://www.case.edu/EpSO.owl#HypothalamicHamartoma
true
true
true
Hypothalamic hamartomas are rare malformations of fetal brain development, affecting development of the hypothalamus, and are placed within the spectrum of grey matter heterotopia. Pathologically, lesions show mature neuronal and glial cells and some myelinated fibres.
https://www.epilepsydiagnosis.org/aetiology/hh-overview.html
A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs.
UMLS:C1504405
UMLS:C1839042
Corticospinal tract dysfunction
Pyramidal tract dysfunction
human_phenotype
HP:0002493
A functional deficit of the tract that conveys nervous impulses from the motor cortex of the brain to the spinal cord. The corticospinal tract mediates discrete voluntary skilled movements. Clinical features of corticospinal tract dysfunction may include spasticity and weakness, particularly affecting the lower limbs, as well as hyperreflexia, clonus at the ankles and knees, and extensor plantar responses (Babinski response).
Upper motor neuron dysfunction
Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).
https://www.ncbi.nlm.nih.gov/pubmed/29656099
MSH:D013036
SNOMEDCT_US:28055006
UMLS:C0684276
Hypsarrhythmia by EEG
human_phenotype
HP:0002521
Hypsarrhythmia
http://www.case.edu/EpSO.owl#Hypsarrhythmia
true
true
Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.
UMLS:C1836923
GI dysmotility
human_phenotype
HP:0002579
Gastrointestinal dysmotility
An abnormality of the vasculature.
UMLS:C0241657
Abnormality of blood vessels
Abnormality of the vasculature
Vascular abnormalities
human_phenotype
HP:0002597
Abnormality of the vasculature
Low Blood Pressure, vascular hypotension.
HP:0005127
HP:0006701
https://www.ncbi.nlm.nih.gov/pubmed/30378543
MSH:D007022
SNOMEDCT_US:45007003
UMLS:C0020649
Arterial hypotension
Low blood pressure
human_phenotype
HP:0002615
Hypotension
true
true
An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour).
HP:0003008
HP:0006741
Abnormal tissue mass
MSH:D009369
NCIT:C3262
SNOMEDCT_US:108369006
SNOMEDCT_US:363346000
UMLS:C0006826
UMLS:C0027651
Epileptogenic tumors are, in the majority, biologically benign lesions that do not usually change over time. As a result, they do not require oncological surgery and surveillance, instead their management centres on control of seizures. Some tumors are highly associated with refractory epilepsy, and are amenable to epilepsy surgery due to their anatomic and imaging features, epilepsy surgery is therefore an important treatment option for this group of patients.
Neoplasia
Oncological abnormality
Tumor
Tumour
human_phenotype
Cancer
Oncology
HP:0002664
The World Health Organization (WHO) classifies neoplasms into four main groups: (i) benign neoplasm, (ii) in situ neoplasm, (iii) malignant neoplasm, and (iv) neoplasm of uncertain or unknown behavior. A malignant neoplasm is also known as cancer.
Neoplasm
true
Epileptogenic tumors are, in the majority, biologically benign lesions that do not usually change over time. As a result, they do not require oncological surgery and surveillance, instead their management centres on control of seizures. Some tumors are highly associated with refractory epilepsy, and are amenable to epilepsy surgery due to their anatomic and imaging features, epilepsy surgery is therefore an important treatment option for this group of patients.
https://www.epilepsydiagnosis.org/aetiology/tumors-overview.html
An abnormality of the immune system.
HP:0003257
HP:0003346
HP:0010986
UMLS:C4021753
Abnormality of the immune system
Immunological abnormality
human_phenotype
HP:0002715
The immune system is composed of organs and interdependent cell types that collectively protect the body from infections and from the growth of tumor cells. The organs of the immune system comprise the bone marrow, the spleen, the thymus,the lymph nodes, and the cell types comprise B cells, T cells, natural killer cells, granulocytes,dendritic cells, and macrophages.
Abnormality of the immune system
Increased resistance to the passage of air in the upper airway.
UMLS:C0740852
mposed upper airways obstruction (suffocation) is a rare but important cause of life-threatening syncope in infants. The events always occur in the presence of a particular individual with others never seeing the beginning of an event. The syncope takes longer to evolve than in reflex anoxic seizures or breath holding. This is one form of fabricated or induced illness.
IUAO
Upper airway obstruction
imposed upper airways obstruction
human_phenotype
HP:0002781
Upper airway obstruction
true
mposed upper airways obstruction (suffocation) is a rare but important cause of life-threatening syncope in infants. The events always occur in the presence of a particular individual with others never seeing the beginning of an event. The syncope takes longer to evolve than in reflex anoxic seizures or breath holding. This is one form of fabricated or induced illness.
https://www.epilepsydiagnosis.org/epilepsy-imitators.html#imposed-upper
Fyler:4200
UMLS:C4025677
Abnormal respiration
Functional respiratory abnormality
human_phenotype
Respiratory problem
HP:0002795
This category describes not-primarily structural lesions.
Functional respiratory abnormality
The presence of an ependymoma of the central nervous system.
MSH:D004806
NCIT:C3017
SNOMEDCT_US:443643007
SNOMEDCT_US:57706008
UMLS:C0014474
human_phenotype
HP:0002888
According to MPATH, ependymomas are neoplasms derived from the ependymal cells lining the ventricles and aqueduct of the brain and the central canal of the spinal cord and may be malignant or benign.
Ependymoma
http://www.case.edu/EpSO.owl#Ependymoma
An abnormally decreased calcium concentration in the blood.
https://www.ncbi.nlm.nih.gov/pubmed/20430655
MSH:D006996
SNOMEDCT_US:5291005
UMLS:C0020598
Hypocalcaemia
Low blood calcium levels
human_phenotype
HP:0002901
Hypocalcemia
https://www.epilepsy.com/learn/professionals/co-existing-disorders/metabolic-disorders/electrolyte-abnormalities/hypocalcemia
true
true
An abnormally decreased sodium concentration in the blood.
MSH:D007010
SNOMEDCT_US:89627008
UMLS:C0020625
Low blood sodium levels
human_phenotype
HP:0002902
Hyponatremia
https://www.epilepsy.com/learn/professionals/co-existing-disorders/metabolic-disorders/electrolyte-abnormalities/hyponatremia
true
An abnormally decreased magnesium concentration in the blood.
HP:0003284
SNOMEDCT_US:190855004
UMLS:C0151723
Low blood Mg levels
Low blood magnesium levels
human_phenotype
HP:0002917
Hypomagnesemia
https://www.epilepsy.com/learn/professionals/co-existing-disorders/metabolic-disorders/electrolyte-abnormalities
true
An abnormality of the cerebrospinal fluid (CSF).
UMLS:C0151583
Abnormal CSF findings
Abnormality of the CSF
human_phenotype
HP:0002921
The cerebrospinal fluid (CSF) is secreted by the choroid plexus, and flows uninterrupted throughout the central nervous system (the central cerebrospinal canal of the spinal cord and through the four interconnected cerebral ventricles in the brain).
Abnormality of the cerebrospinal fluid
Abnormality originating in one or more muscles, i.e., of the set of muscles of body.
HP:0003197
HP:0003708
HP:0040290
UMLS:C4021745
Muscular abnormality
human_phenotype
HP:0003011
Abnormality of the musculature
Abnormality of the homeostasis (concentration) of a monoatomic ion.
HP:0003253
SNOMEDCT_US:237840007
UMLS:C1704431
UMLS:C4025654
Abnormality of ion homeostasis
Electrolyte disorders
human_phenotype
HP:0003111
Abnormal blood ion concentration
An abnormally increased sodium concentration in the blood.
MSH:D006955
SNOMEDCT_US:286926003
SNOMEDCT_US:39355002
UMLS:C0020488
High blood sodium levels
human_phenotype
HP:0003228
Hypernatremia
https://www.epilepsy.com/learn/professionals/co-existing-disorders/metabolic-disorders/electrolyte-abnormalities-0
true
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
HP:0002147
HP:0002906
HP:0003078
HP:0003525
HP:0003531
HP:0008164
https://www.ncbi.nlm.nih.gov/pubmed/28288363
UMLS:C0151576
UMLS:C0241005
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine kinase
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase
human_phenotype
HP:0003236
'has part' some
('increased amount' and ('inheres in' some
(IMR_0002602 and ('part of' some blood))) and ('has modifier' some abnormal))
Elevated serum creatine kinase
true
Sudden and involuntary contractions of one or more muscles.
HP:0009018
HP:0031988
MSH:D009120
SNOMEDCT_US:55300003
UMLS:C0026821
Muscle cramps
human_phenotype
Spasm
HP:0003394
Muscle spasm
true
Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat).
UMLS:C4025596
human_phenotype
HP:0003549
Abnormality of connective tissue
A condition in which muscles cannot be moved quickly without accompanying pain or spasm.
HP:0009014
https://www.ncbi.nlm.nih.gov/pubmed/28139515
SNOMEDCT_US:16046003
UMLS:C0221170
stiffness
human_phenotype
HP:0003552
Muscle stiffness
https://www.epilepsysociety.org.uk/seizure-types#.XJsKjZgzbIU
true
true
true
Excessive production of saliva.
MSH:D012798
SNOMEDCT_US:275295002
SNOMEDCT_US:53827007
SNOMEDCT_US:62718007
UMLS:C0013132
UMLS:C0037036
Excessive production of saliva
Excessive salivation
Hypersalivation
Mouth watering
Oversalivation
Ptyalism
Watery mouth
human_phenotype
HP:0003781
Excessive salivation
UMLS:C0852413
Abnormal muscle tone
human_phenotype
HP:0003808
Abnormal muscle tone
Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.
peter
2008-02-20T12:18:00Z
HP:0007120
SNOMEDCT_US:102542000
UMLS:C0235086
Involuntary movements
Involuntary muscle contractions
human_phenotype
HP:0004305
Involuntary movements
An abnormal increase or decrease of weight or an abnormal distribution of mass in the body.
peter
2008-02-27T03:21:00Z
HP:0010718
UMLS:C0878621
UMLS:C4025357
Abnormality of body weight
human_phenotype
Abnormality of habitus
HP:0004323
Abnormality of body weight
Abnormally low body weight.
peter
2008-02-27T03:22:00Z
HP:0001823
HP:0001826
MSH:D013851
MSH:D015431
SNOMEDCT_US:161832001
SNOMEDCT_US:248342006
SNOMEDCT_US:262285001
SNOMEDCT_US:89362005
UMLS:C0041667
UMLS:C1262477
UMLS:C1844806
Decreased body weight
Decreased weight
Low body weight
Low weight
Weight less than 3rd percentile
human_phenotype
HP:0004325
Decreased body weight
Any structural anomaly of the vitreous body.
peter
2008-02-27T04:20:00Z
UMLS:C4025356
Abnormal vitreous humour morphology
human_phenotype
HP:0004327
The vitreous humor is the clear gel that fills the space between the lens and the retina.
Abnormal vitreous humor morphology
peter
2008-02-27T04:25:00Z
UMLS:C4025354
Abnormal morphology of the posterior segment of the globe
Abnormality of the posterior segment of the eye
Abnormality of the posterior segment of the eyeball
Abnormality of the posterior segment of the globe
human_phenotype
HP:0004329
The posterior segment comprises the anterior hyaloid membrane and all of the optical structures behind it: the vitreous humor, retina, choroid, and optic nerve.
Abnormal posterior eye segment morphology
Any deviation from the normal concentration of calcium in the blood circulation.
peter
2008-03-17T04:15:00Z
HP:0040077
https://www.ncbi.nlm.nih.gov/pubmed/20430655
Abnormal blood calcium concentration
Abnormal blood calcium levels
Abnormal circulating Ca concentration
Abnormal circulating Ca2+ concentration
HP:0004363
Abnormal circulating calcium concentration
true
peter
2008-03-18T07:12:00Z
SNOMEDCT_US:3006004
UMLS:C0234428
Disturbances of consciousness
Lowered consciousness
Reduced consciousness/confusion
human_phenotype
HP:0004372
Reduced consciousness/confusion
Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.
peter
2008-03-18T07:35:00Z
UMLS:C0375206
Paralysis or weakness of one side of body
human_phenotype
HP:0004374
Hemiplegia/hemiparesis
Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).
peter
2008-03-18T09:30:00Z
MSH:D013924
SNOMEDCT_US:64156001
UMLS:C0040046
human_phenotype
HP:0004418
Thrombophlebitis
https://www.longdom.org/open-access/a-case-of-thrombophlebitis-caused-by-carbamazepine-2161-1025.1000121.pdf
true
An abnormality of magnesium ion homeostasis.
HP:0008274
UMLS:C4020826
UMLS:C4025274
Abnormal Mg concentration
Abnormality of magnesium homeostasis
human_phenotype
Abnormal magnesium metabolism
HP:0004921
Abnormal magnesium concentration
Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.
MSH:D020246
SNOMEDCT_US:111293003
UMLS:C0042487
Blood clot in vein
human_phenotype
HP:0004936
Venous thrombosis
A separation (dissection) of the layers of an artery.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3728598/
MSH:D000784
SNOMEDCT_US:233992003
SNOMEDCT_US:26845001
SNOMEDCT_US:710864009
SNOMEDCT_US:9406001
UMLS:C0002949
human_phenotype
HP:0005294
Arterial dissection
true
UMLS:C1846620
Unilateral clonic seizures
human_phenotype
HP:0006813
Hemiclonic seizures
Enlargement of all or parts of one cerebral hemisphere.
MSH:D065705
SNOMEDCT_US:253170008
UMLS:C0431391
Hemimegalencephaly is a malformation of cortical development, where there is an abnormally large and malformed cerebral hemisphere, with abnormal cortical formation, white matter volume and ventricular morphology. The other hemisphere is usually normal, but may be smaller in size. Hemimegalencephaly can co-occur with other structural abnormalities including enlargement of the ipsilateral cerebellar hemisphere and brainstem, polymicrogyria and grey matter heterotopia. It can occur in tuberous sclerosis, linear nevus sebaceous syndrome (50% have hemimegalencephaly), hypomelanosis of Ito, neurofibromatosis, Proteus syndrome and in Klippel-Trenaunay-Weber syndrome.
human_phenotype
HP:0007206
The affected hemisphere may have focal or diffuse neuronal migration defects, with areas of polymicrogyria, pachygyria, and heterotopia.
Hemimegalencephaly
true
Hemimegalencephaly is a malformation of cortical development, where there is an abnormally large and malformed cerebral hemisphere, with abnormal cortical formation, white matter volume and ventricular morphology. The other hemisphere is usually normal, but may be smaller in size. Hemimegalencephaly can co-occur with other structural abnormalities including enlargement of the ipsilateral cerebellar hemisphere and brainstem, polymicrogyria and grey matter heterotopia. It can occur in tuberous sclerosis, linear nevus sebaceous syndrome (50% have hemimegalencephaly), hypomelanosis of Ito, neurofibromatosis, Proteus syndrome and in Klippel-Trenaunay-Weber syndrome.
https://www.epilepsydiagnosis.org/aetiology/hemimegalencephaly-overview.html
Seizures of which initial semiology indicates, or is consistent with, initial activation of only part of one cerebral hemisphere.
peter
2008-03-31T05:27:00Z
HP:0002358
MSH:D012640
SNOMEDCT_US:29753000
UMLS:C0751495
Focal seizures are conceptualized as originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed. Focal seizures may originate in subcortical structures. For each seizure type, ictal onset is consistent from one seizure to another, with preferential propagation patterns that can involve the ipsilateral and/or contralateral hemisphere.
Focal seizure
Focal seizures
Focal-onset seizures
Partial seizures
Seizure affecting one half of brain
human_phenotype
HP:0007359
Partial seizures can be classified as simple (consciousness is maintained) or complex (consciousness is impaired or lost).
Focal-onset seizure
true
Focal seizures are conceptualized as originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed. Focal seizures may originate in subcortical structures. For each seizure type, ictal onset is consistent from one seizure to another, with preferential propagation patterns that can involve the ipsilateral and/or contralateral hemisphere.
https://www.epilepsydiagnosis.org/seizure/focal-seizure-overview.html#
peter
2008-04-04T12:35:00Z
HP:0000827
UMLS:C4024685
Puberty and gonadal disorders
human_phenotype
HP:0008373
Puberty and gonadal disorders
Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia.
peter
2009-09-20T08:53:39Z
SNOMEDCT_US:698836007
UMLS:C3697670
Spinal myoclonus results in myoclonic jerks of the body that may not be modified by sleep or by voluntary action (therefore it may be present awake and asleep and at rest or during movement). Spinal segmental myoclonus is usually symptomatic of an underlying structural spinal lesion such as syringomyelia. It is confined to one or few contiguous myotomes and may occur irregularly or quasirhythmically, with a variable frequency. Propriospinal myoclonus is a form of spinal myoclonus where the axial muscles are recruited extensively along long propriospinal pathways. Typically, there are axial flexion jerks involving the neck, trunk and hips with a frequency of 1-6 Hz. Propriospinal myoclonus typically occurs spontaneously, especially in the recumbent position, or may be provoked by tapping of the abdomen or by eliciting tendon reflexes.
human_phenotype
HP:0010531
Spinal myoclonus
true
Spinal myoclonus results in myoclonic jerks of the body that may not be modified by sleep or by voluntary action (therefore it may be present awake and asleep and at rest or during movement). Spinal segmental myoclonus is usually symptomatic of an underlying structural spinal lesion such as syringomyelia. It is confined to one or few contiguous myotomes and may occur irregularly or quasirhythmically, with a variable frequency. Propriospinal myoclonus is a form of spinal myoclonus where the axial muscles are recruited extensively along long propriospinal pathways. Typically, there are axial flexion jerks involving the neck, trunk and hips with a frequency of 1-6 Hz. Propriospinal myoclonus typically occurs spontaneously, especially in the recumbent position, or may be provoked by tapping of the abdomen or by eliciting tendon reflexes.
https://www.epilepsydiagnosis.org/epilepsy-imitators.html#spinal-myoclonus
Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons.
peter
2009-10-01T08:30:25Z
UMLS:C4021255
Paralysis due to lesions of the principle motor tracts
human_phenotype
HP:0010549
Weakness due to upper motor neuron dysfunction
The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area.
peter
2009-12-06T08:05:54Z
MSH:D065707
SNOMEDCT_US:253159001
SNOMEDCT_US:38353004
UMLS:C0266484
Schizencephaly is an uncommon malformation of cortical development that results in a cleft, lined by polymicrogyria, that extends from the ependyma of the ventricles to the pia mater. The majority of clefts are posterior frontal or parietal, but temporal or occipital location can occur.
human_phenotype
HP:0010636
Schizencephaly
true
Schizencephaly is an uncommon malformation of cortical development that results in a cleft, lined by polymicrogyria, that extends from the ependyma of the ventricles to the pia mater. The majority of clefts are posterior frontal or parietal, but temporal or occipital location can occur.
https://www.epilepsydiagnosis.org/aetiology/schizencephaly-overview.html
Enuresis occurring during sleeping hours.
sandra1
2010-03-01T09:11:31Z
https://www.ncbi.nlm.nih.gov/pubmed/30666028
MSH:D053206
SNOMEDCT_US:8009008
UMLS:C0270327
Nocturnal enuresis
human_phenotype
Bedwetting
HP:0010677
Enuresis nocturna
http://www.case.edu/EpSO.owl#Bedwetting
true
Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.
peter
2010-04-30T11:40:43Z
MSH:D004890
MSH:D005483
SNOMEDCT_US:20255002
SNOMEDCT_US:238810007
SNOMEDCT_US:247441003
SNOMEDCT_US:271811009
SNOMEDCT_US:444827008
SNOMEDCT_US:70819003
SNOMEDCT_US:86735004
UMLS:C0016382
UMLS:C0041834
Redness of skin or mucous membrane
human_phenotype
HP:0010783
Erythema
Generalized seizures with sustained increase in muscle contraction lasting a few seconds to minutes.
peter
2010-07-10T03:03:51Z
HP:0002184
UMLS:C1836508
A generalized tonic seizure involves bilaterally increased tone of the limbs typically lasting seconds to a minute. They often occur out of sleep and in runs of varying intensity of tonic stiffening. The individual is unaware during these events. At the beginning of tonic seizures with more intense stiffening, individuals may make an expiratory sound. More severe and prolonged tonic seizures may have a vibratory component which may be confused with clonic jerking. Tonic seizures often occur in individuals with intellectual impairment.
Generalised tonic seizures
human_phenotype
Hypertonic seizures
HP:0010818
Characterized by a sudden increase in muscle tone whereby the body, arms, or legs make sudden stiffening movements and consciousness is usually preserved. Tonic seizures can occur during sleep. Tonic seizures usually affect both sides of the body, and cause a fall if the affected person was standing when the seizure started.
Generalized tonic seizures
true
A generalized tonic seizure involves bilaterally increased tone of the limbs typically lasting seconds to a minute. They often occur out of sleep and in runs of varying intensity of tonic stiffening. The individual is unaware during these events. At the beginning of tonic seizures with more intense stiffening, individuals may make an expiratory sound. More severe and prolonged tonic seizures may have a vibratory component which may be confused with clonic jerking. Tonic seizures often occur in individuals with intellectual impairment.
https://www.epilepsydiagnosis.org/seizure/tonic-overview.html
Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature.
peter
2010-07-10T03:13:06Z
HP:0002124
SNOMEDCT_US:189198006
SNOMEDCT_US:42365007
UMLS:C0270846
UMLS:C1836509
Astatic seizure
Astatic seizures
Atonic seizures
Drop attacks
Drop seizures
Hypotonic seizure
human_phenotype
Hypotonic seizures
Sudden loss of muscle tone
HP:0010819
This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding atonic seizures when the onset is not known.
Atonic seizure
http://www.case.edu/EpSO.owl#AtonicSeizure
https://www.epilepsydiagnosis.org/seizure/atonic-overview.html
true
A type of seizure characterized by crying or an outburst of crying as a major feature.
peter
2010-07-10T03:23:32Z
UMLS:C4023693
Characterized by the presence of stereotyped crying, this may be accompanied by lacrimation, sad facial expression and sobbing. The subjective emotion of sadness may or may not be present. These seizures often accompany focal emotional seizures with laughing in the setting of a hypothalamic hamartoma. They can also occur in seizures arising in frontal or temporal lobes. Crying is a rare feature of an epileptic seizure, and is more commonly a feature of a non-epileptic seizure.
human_phenotype
HP:0010820
The word dacrystic is derived from the Greek word dakryon (tear).
Dacrystic seizures
https://www.epilepsy.com/learn/types-seizures/gelastic-and-dacrystic-seizures
true
Characterized by the presence of stereotyped crying, this may be accompanied by lacrimation, sad facial expression and sobbing. The subjective emotion of sadness may or may not be present. These seizures often accompany focal emotional seizures with laughing in the setting of a hypothalamic hamartoma. They can also occur in seizures arising in frontal or temporal lobes. Crying is a rare feature of an epileptic seizure, and is more commonly a feature of a non-epileptic seizure.
https://www.epilepsydiagnosis.org/seizure/emotional-overview.html
A type of seizure characterized by laughing or an outburst of laughing as a major feature.
peter
2010-07-10T03:27:12Z
MSH:D004828
SNOMEDCT_US:89525009
UMLS:C0270820
Bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as mirthless. This seizure type is characteristic of seizures arising in the hypothalamus (see hypothalamic hamartoma), but can occur in seizures arising in the frontal or temporal lobes.
focal emotional seizure with laughing (gelastic)
human_phenotype
HP:0010821
Laughter is usually lasts briefly, about 30s. Laughing can also be a component of several other kinds of seizures such as partial seizures with motor symptoms, myoclonic seizures, axial tonic seizures, flexor spasms, generalized convulsive seizures, and petit mal absences.
Gelastic seizures
http://www.case.edu/EpSO.owl#GelasticSeizure
https://www.epilepsy.com/learn/types-seizures/gelastic-and-dacrystic-seizures
true
true
Bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as mirthless. This seizure type is characteristic of seizures arising in the hypothalamus (see hypothalamic hamartoma), but can occur in seizures arising in the frontal or temporal lobes.
https://www.epilepsydiagnosis.org/seizure/emotional-overview.html
Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).
peter
2010-07-10T08:15:05Z
UMLS:C4021217
EEG with generalised slow activity
EEG: generalised slow activity
EEG: generalized slow activity
electroencephalogram with generalized slow activity
human_phenotype
Slow Activity
HP:0010845
Generalized slow activity in the EEG typically signifies serious dysfunction of the entire brain.
EEG with generalized slow activity
http://www.case.edu/EpSO.owl#SlowActivity
true
true
The presence of complexes of slow spikes and slow waves (<2.5 Hz) in electroencephalography (EEG).
peter
2010-07-10T08:18:25Z
UMLS:C4023686
spike and slow wave complex
human_phenotype
HP:0010847
Spikes (<70 ms) and sharp waves (70-200 ms) are sharp transient waves that have a strong association with epilepsy. No difference is noted in terms of clinical significance of spikes and sharp waves. Significant spikes usually are followed by a slow wave.
EEG with spike-wave complexes (<2.5 Hz)
true
Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).
peter
2010-07-10T08:23:28Z
UMLS:C4023683
electroencephalogram with spike wave complex
human_phenotype
Spike Wave
HP:0010850
EEG with spike-wave complexes
true
EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns.
peter
2010-07-11T08:10:17Z
HP:0001330
UMLS:C3552821
Photoparoxysmal response on EEG
electroencephalogram with photoparoxysmal response
human_phenotype
Photoparoxysmal Response
HP:0010852
In some patients, seizures can be provoked by specific external factors (reflex epilepsy), including flickering lights and patterns. These patients commonly show epileptiform discharges in the EEG when stimulated with flashing lights, black and white striped patterns and television. These evoked EEG abnormalities are called photoparoxysmal responses.
EEG with photoparoxysmal response
http://www.case.edu/EpSO.owl#PhotoparoxysmalResponse
Periodic lateralized epileptiform discharges (PLEDs)are periodic, lateralized, and epileptiform. PLEDs show a relatively constant interval between discharges (0.5 to 3 seconds).
peter
2010-07-11T08:25:02Z
UMLS:C4021215
EEG: periodic lateralized epileptiform discharges
electroencephalogram with periodic lateralized epileptiform discharge
human_phenotype
Periodic Lateralized Epileptiform Discharge
HP:0010853
The epileptiform morphology of the discharges is not invariable, as PLEDS are often closer to slow waves than to sharp waves in morphology. PLEDs are often are caused by acute destructive focal lesions. PLEDs are often a transitory phenomenon, disappearing in a matter of weeks, even if the causal lesion persists, and often transforming into a less specific but more persistent focal slow appearance.
EEG with periodic lateralized epileptiform discharges
http://www.case.edu/EpSO.owl#PeriodicLateralizedEpileptiformDischarge
An abnormal level of a circulating protein in the blood.
peter
2010-09-07T01:51:12Z
UMLS:C4020763
UMLS:C4020764
UMLS:C4023679
Abnormality of circulating protein level
human_phenotype
Blood protein disease
Serum protein abnormality
HP:0010876
Abnormal circulating protein level
An abnormality of divalent inorganic cation homeostasis.
peter
2011-01-06T07:47:18Z
UMLS:C4023648
Abnormality of divalent inorganic cation homeostasis
human_phenotype
HP:0010927
Abnormal blood inorganic cation concentration
An abnormality of cation homeostasis.
peter
2011-01-06T10:36:04Z
UMLS:C4023646
Abnormality of cation homeostasis
human_phenotype
HP:0010929
Abnormal blood cation concentration