Epilepsy Ontology (EPIO)
type: Ontology
version IRI: EPIO.owl
contributor: Johannes Darms (zbmed)
contributor: Satya S. Sahoo (case.edu)
creator: Alpha Tom Kodamullil (Fraunhofer SCAI)
creator: Astghik Sargsyan (Fraunhofer SCAI)
creator: Philipp Wegner (Fraunhofer SCAI)
creator: Shounak Baksi (Causality Biomodels)
creator: Stephan Gebel (Fraunhofer SCAI)
creator: Sumit Madan (Fraunhofer SCAI)
description: 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.
license: https://creativecommons.org/licenses/by/4.0/
comment: EPIO by SEM-Group of Fraunhofer SCAI is licensed under CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/).
comment: 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.
version info: 2021-05-28
version info: Version Release: 1.0.0

BFO OWL specification label
type: AnnotationProperty
definition: 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.
curator note: Really of interest to developers only
sub property of: label

BFO CLIF specification label
type: AnnotationProperty
definition: Relates an entity in the ontology to the term that is used to represent it in the the CLIF specification of BFO2
definition source: Person:Alan Ruttenberg
curator note: Really of interest to developers only
sub property of: label

editor preferred label
type: AnnotationProperty
editor preferred label: editor preferred label
editor preferred label: editor preferred term
editor preferred label: editor preferred term~editor preferred label
editor preferred label: 编辑首选术语
editor preferred label: 编辑首选标签
has curation status: IAO_0000122
definition: The concise, meaningful, and human-friendly name for a class or property preferred by the ontology developers. (US-English)
definition: 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）
definition editor: PERSON:Daniel Schober
definition source: GROUP:OBI:<http://purl.obolibrary.org/obo/obi>
label: editor preferred term
label: editor preferred term~editor preferred label
label: 编辑首选术语
label: 编辑首选术语~编辑首选标签
label: 编辑首选标签

example of usage
type: AnnotationProperty
editor preferred label: example
editor preferred label: example of usage
has curation status: IAO_0000122
definition: 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
definition: 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.
definition editor: PERSON:Daniel Schober
definition source: GROUP:OBI:<http://purl.obolibrary.org/obo/obi>

has curation status
type: AnnotationProperty
editor preferred label: has curation status
editor preferred label: 有管理状态
definition editor: PERSON:Alan Ruttenberg
definition editor: PERSON:Bill Bug
definition editor: PERSON:Melanie Courtot
definition source: OBI_0000281
label: 有管理状态

definition
type: AnnotationProperty
editor preferred label: definition
editor preferred label: textual definition
editor preferred label: 定义
has curation status: IAO_0000122
definition: 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.
definition: 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.
definition: 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。
definition: The official OBI definition, explaining the meaning of a class or property. Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions.
definition: The official definition, explaining the meaning of a class or property. Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions.
definition: 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。
editor note: 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。
editor note: 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.
definition editor: PERSON:Daniel Schober
definition source: GROUP:OBI:<http://purl.obolibrary.org/obo/obi>
alternative_term: DEFINITION
label: textual definition
label: 定义
label: 文本定义

editor note
type: AnnotationProperty
editor preferred label: editor note
editor preferred label: 编者注
has curation status: IAO_0000122
definition: 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.
definition: 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。
definition editor: PERSON:Daniel Schober
definition source: GROUP:OBI:<http://purl.obfoundry.org/obo/obi>
definition source: GROUP:OBI:<http://purl.obofoundry.org/obo/obi>
has db xref: IAO:0000116
has OBO namespace: uberon
id: editor_note
id: 编辑_注释
is metadata tag: true
shorthand: editor_note
shorthand: 编辑_注释
is metadata tag: 1
label: 编者注

definition editor
type: AnnotationProperty
editor preferred label: definition editor
editor preferred label: term editor
editor preferred label: 术语编辑者
has curation status: IAO_0000122
definition: 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
definition: 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
definition: 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
editor note: 20110707, MC: label update to term editor and definition modified accordingly. See http://code.google.com/p/information-artifact-ontology/issues/detail?id=115.
editor note: 20110707, MC: label update to term editor and definition modified accordingly. See https://github.com/information-artifact-ontology/IAO/issues/115.
editor note: 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。
definition editor: PERSON:Daniel Schober
definition source: GROUP:OBI:<http://purl.obolibrary.org/obo/obi>
label: term editor
label: 术语编辑者

alternative term
type: AnnotationProperty
editor preferred label: alternative term
has curation status: IAO_0000125
definition: An alternative name for a class or property which means the same thing as the preferred name (semantically equivalent)
definition editor: PERSON:Daniel Schober
definition source: GROUP:OBI:<http://purl.obolibrary.org/obo/obi>

definition source
type: AnnotationProperty
editor preferred label: definition source
editor preferred label: 定义来源
has curation status: IAO_0000122
definition: 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
definition: 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
definition editor: PERSON:Daniel Schober
definition source: Discussion on obo-discuss mailing-list, see http://bit.ly/hgm99w
definition source: GROUP:OBI:<http://purl.obolibrary.org/obo/obi>
definition source: 论OBO-讨论邮件-列表，请参阅http://bit.ly/hgm99w
label: 定义来源

curator note
type: AnnotationProperty
editor preferred label: curator note
has curation status: IAO_0000122
definition: An administrative note of use for a curator but of no use for a user
definition editor: PERSON:Alan Ruttenberg
database_cross_reference: IAO:0000232
has_obo_namespace: uberon
id: curator_notes
is metadata tag: 1
is metadata tag: true
shorthand: curator_notes
label: curator notes

imported from
type: AnnotationProperty
editor preferred label: imported from
editor preferred label: 引自
has curation status: IAO_0000125
definition: For external terms/classes, the ontology from which the term was imported
definition: 外部术语/类，术语引入的本体
definition editor: PERSON:Alan Ruttenberg
definition editor: PERSON:Melanie Courtot
definition source: GROUP:OBI:<http://purl.obolibrary.org/obo/obi>
label: 引自

OBO foundry unique label
type: AnnotationProperty
has curation status: IAO_0000125

elucidation
type: AnnotationProperty
editor preferred label: elucidation
definition editor: person:Alan Ruttenberg
definition source: Person:Barry Smith
elucidation: 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

has associated axiom(nl)
type: AnnotationProperty
editor preferred label: has associated axiom(nl)
definition editor: Person:Alan Ruttenberg
definition source: Person:Alan Ruttenberg
elucidation: An axiom associated with a term expressed using natural language

has associated axiom(fol)
type: AnnotationProperty
editor preferred label: has associated axiom(fol)
definition editor: Person:Alan Ruttenberg
definition source: Person:Alan Ruttenberg
elucidation: An axiom expressed in first order logic using CLIF syntax

synonym
type: AnnotationProperty

tag display synonym
type: AnnotationProperty

Has_CDRH_Parent
type: AnnotationProperty
definition: 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.
code: A10
Semantic_Type: Conceptual Entity
Display_Name: Has CDRH Parent
Preferred_Name: Has_CDRH_Parent
alternative_term: Has_CDRH_Parent

Has_NICHD_Parent
type: AnnotationProperty
definition: 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.
code: A11
Semantic_Type: Conceptual Entity
Preferred_Name: Has_NICHD_Parent
alternative_term: Has_NICHD_Parent

Related_To_Genetic_Biomarker
type: AnnotationProperty
definition: An association that indicates that a finding or lab test is related to a gene, possibly through a variant or product.
code: A13
Semantic_Type: Conceptual Entity
Preferred_Name: Related_To_Genetic_Biomarker
alternative_term: Related_To_Genetic_Biomarker

Neoplasm_Has_Special_Category
type: AnnotationProperty
definition: An association that indicates that a neoplastic disease can have the characteristics defined by a Neoplasm by Special Category concept.
code: A14
Semantic_Type: Conceptual Entity
Preferred_Name: Neoplasm_Has_Special_Category
alternative_term: Neoplasm_Has_Special_Category

code
type: AnnotationProperty
read only: true
definition: A property representing a concept unique identifier within the NCI Enterprise Vocabulary Service's NCI Thesaurus.
code: NHC0
Semantic_Type: Conceptual Entity
Preferred_Name: code
alternative_term: code

Semantic_Type
type: AnnotationProperty
definition: 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.
code: P106
Semantic_Type: Conceptual Entity
Display_Name: Semantic Type
Preferred_Name: Semantic_Type
DesignNote: 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.
alternative_term: Semantic_Type

Display_Name
type: AnnotationProperty
definition: A property representing an alternative Preferred Name for use in some NCI systems.
code: P107
Semantic_Type: Conceptual Entity
Display_Name: Display Name
Preferred_Name: Display_Name
alternative_term: Display Name
alternative_term: Display_Name

Preferred_Name
type: AnnotationProperty
definition: A property representing the word or phrase that NCI uses by preference to refer to the concept.
code: P108
Semantic_Type: Conceptual Entity
Display_Name: Preferred Name
Preferred_Name: Preferred_Name
alternative_term: Preferred Name
alternative_term: Preferred Term
alternative_term: Preferred_Name

UMLS_CUI
type: AnnotationProperty
definition: 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.
code: P207
Semantic_Type: Conceptual Entity
Display_Name: UMLS CUI
Preferred_Name: UMLS_CUI
alternative_term: UMLS_CUI

NCI_META_CUI
type: AnnotationProperty
definition: 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).
code: P208
Semantic_Type: Conceptual Entity
Display_Name: NCI Metathesaurus CUI
Preferred_Name: NCI_META_CUI
alternative_term: NCI_META_CUI

Concept_Status
type: AnnotationProperty
definition: 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.
code: P310
Semantic_Type: Conceptual Entity
Display_Name: Concept Status
Preferred_Name: Concept_Status
alternative_term: Concept_Status

FDA_Table
type: AnnotationProperty
definition: 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.
code: P317
Semantic_Type: Conceptual Entity
Display_Name: FDA Table
Preferred_Name: FDA_Table
alternative_term: FDA_Table

Contributing_Source
type: AnnotationProperty
definition: 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.
code: P322
Semantic_Type: Conceptual Entity
Display_Name: Contributing Source
Preferred_Name: Contributing_Source
alternative_term: Contributing_Source

ALT_DEFINITION
type: AnnotationProperty
definition: A property representing the English language definition of a concept from a source other than NCI.
code: P325
Semantic_Type: Conceptual Entity
Display_Name: [source] Definition
Preferred_Name: ALT_DEFINITION
alternative_term: ALT_DEFINITION

Use_For
type: AnnotationProperty
definition: A property representing a term that had been used in a coding system and then subsumed by the given NCIt concept.
code: P333
Semantic_Type: Conceptual Entity
Display_Name: Use For
Preferred_Name: Use_For
alternative_term: Use_For

ICD-O-3_Code
type: AnnotationProperty
definition: A property representing the matching ICD-O-3 code for the NCI Thesaurus concept.
code: P334
Semantic_Type: Conceptual Entity
Display_Name: ICD-O-3 Code
Preferred_Name: ICD-O-3_Code
alternative_term: ICD-O-3_Code

Neoplastic_Status
type: AnnotationProperty
definition: A property representing the morphologic, clinical, and genetic profile of a neoplastic growth that defines it as benign, malignant, or of uncertain cancerous potential.
code: P363
Semantic_Type: Conceptual Entity
Display_Name: Neoplastic Status
Preferred_Name: Neoplastic_Status
Contributing_Source: FDA
alternative_term: Neoplastic_Status

Legacy Concept Name
type: AnnotationProperty
read only: true
definition: 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.
code: P366
Semantic_Type: Conceptual Entity
Preferred_Name: Legacy Concept Name
alternative_term: Legacy Concept Name
alternative_term: Legacy_Concept_Name
label: Legacy_Concept_Name

NICHD_Hierarchy_Term
type: AnnotationProperty
definition: A property representing a term chosen by NICHD to be used in the representation of the NICHD hierarchy.
code: P371
Semantic_Type: Conceptual Entity
Preferred_Name: NICHD_Hierarchy_Term
Contributing_Source: NICHD
alternative_term: NICHD_Hierarchy_Term

Publish_Value_Set
type: AnnotationProperty
definition: A property representing whether a value set is ready for publication in the browser.
code: P372
Semantic_Type: Conceptual Entity
Preferred_Name: Publish_Value_Set
alternative_term: Publish_Value_Set

Maps_To
type: AnnotationProperty
definition: 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.
code: P375
Semantic_Type: Conceptual Entity
Preferred_Name: Maps_To
alternative_term: Maps_To

DesignNote
type: AnnotationProperty
definition: 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.
code: P98
Semantic_Type: Conceptual Entity
Display_Name: DesignNote
Preferred_Name: DesignNote
alternative_term: DesignNote

has_MedDRA_id
type: AnnotationProperty

ISA alternative term
type: AnnotationProperty
editor preferred label: ISA alternative term
has curation status: IAO_0000122
definition: An alternative term used by the ISA tools project (http://isa-tools.org).
editor note: Requested by Alejandra Gonzalez-Beltran https://sourceforge.net/tracker/?func=detail&aid=3603413&group_id=177891&atid=886178
definition editor: Person: Alejandra Gonzalez-Beltran
definition editor: Person: Philippe Rocca-Serra
definition source: ISA tools project (http://isa-tools.org)
sub property of: alternative term

IEDB alternative term
type: AnnotationProperty
editor preferred label: IEDB alternative term
has curation status: IAO_0000122
definition: An alternative term used by the IEDB.
definition editor: PERSON:Randi Vita, Jason Greenbaum, Bjoern Peters
definition source: IEDB
sub property of: alternative term

dubious_for_taxon
type: AnnotationProperty
definition: S dubious_for_taxon T if it is probably the case that no instances of S can be found in any instance of T.
database_cross_reference: RO:0002174
has_obo_namespace: uberon
id: dubious_for_taxon
is class level: true
is metadata tag: true
shorthand: dubious_for_taxon
comment: 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

present_in_taxon
type: AnnotationProperty
definition: 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
database_cross_reference: RO:0002175
alternative_term: applicable for taxon
has_obo_namespace: uberon
id: present_in_taxon
is class level: true
is metadata tag: true
shorthand: present_in_taxon

is opposite of
type: AnnotationProperty
example of usage: 'anterior end of organism' is-opposite-of 'posterior end of organism'
example of usage: 'increase in temperature' is-opposite-of 'decrease in temperature'
definition: 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).
database_cross_reference: RO:0002604
has_obo_namespace: quality
id: is_opposite_of
is class level: true
is metadata tag: true
shorthand: is_opposite_of
label: is_opposite_of

external_definition
type: AnnotationProperty
definition: 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.
database_cross_reference: UBPROP:0000001
has_obo_namespace: uberon
id: external_definition
is metadata tag: true
shorthand: external_definition
comment: This annotation property may be replaced with an annotation property from an external ontology such as IAO

axiom_lost_from_external_ontology
type: AnnotationProperty
definition: A textual description of an axiom loss in this ontology compared to an external ontology.
database_cross_reference: UBPROP:0000002
has_obo_namespace: uberon
id: axiom_lost_from_external_ontology
is metadata tag: true
shorthand: axiom_lost_from_external_ontology
comment: This annotation property may be replaced with an annotation property from an external ontology such as IAO

homology_notes
type: AnnotationProperty
definition: Notes on the homology status of this class.
database_cross_reference: UBPROP:0000003
has_obo_namespace: uberon
id: homology_notes
is metadata tag: true
shorthand: homology_notes
comment: This annotation property may be replaced with an annotation property from an external ontology such as IAO

has_relational_adjective
type: AnnotationProperty
curator note: 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'.
database_cross_reference: UBPROP:0000007
has_obo_namespace: uberon
id: has_relational_adjective
is metadata tag: true
shorthand: has_relational_adjective

taxon_notes
type: AnnotationProperty
definition: Notes on the how instances of this class vary across species.
database_cross_reference: UBPROP:0000008
has_obo_namespace: uberon
id: taxon_notes
is metadata tag: true
shorthand: taxon_notes

development_notes
type: AnnotationProperty
definition: Notes on the ontogenic development of instances of this class.
editor note: This annotation property may be replaced with an annotation property from an external ontology such as IAO
database_cross_reference: UBPROP:0000011
has_obo_namespace: uberon
id: development_notes
is metadata tag: true
shorthand: development_notes

external_ontology_notes
type: AnnotationProperty
definition: Notes on how similar or equivalent classes are represented in other ontologies.
editor note: This annotation property may be replaced with an annotation property from an external ontology such as IAO
database_cross_reference: UBPROP:0000012
has_obo_namespace: uberon
id: external_ontology_notes
is metadata tag: true
shorthand: external_ontology_notes

fma_set_term
type: AnnotationProperty
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
database_cross_reference: UBPROP:0000202
has_obo_namespace: uberon
id: fma_set_term
is metadata tag: true
shorthand: fma_set_term

excluded subClassOf
type: AnnotationProperty
id: excluded_subClassOf
is metadata tag: true

has_rank
type: AnnotationProperty
definition: A metadata relation between a class and its taxonomic rank (eg species, family)
has_obo_namespace: ncbi_taxonomy

contributor
type: AnnotationProperty
has_obo_namespace: uberon
id: dc-contributor
is metadata tag: true
shorthand: dc-contributor

creator
type: AnnotationProperty
has_obo_namespace: uberon
id: dc-creator
is metadata tag: true
shorthand: dc-creator

created_by
type: AnnotationProperty

creation_date
type: AnnotationProperty

has_alternative_id
type: AnnotationProperty

has_broad_synonym
type: AnnotationProperty

database_cross_reference
type: AnnotationProperty
definition: A property representing a reference to an identical or very similar object in another database.
definition: Reference database or publication source.
Semantic_Type: Conceptual Entity
Preferred_Name: xRef
label: xRef
label: 数据库_交叉_引用

alternative_term
type: AnnotationProperty
definition: 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.
definition: An alternative label for a given entity such as a commonly used abbreviation or synonym.
alternative_term: FULL_SYN
alternative_term: Synonym with Source Data
label: has exact synonym
label: has_exact_synonym

has_narrow_synonym
type: AnnotationProperty

has_obo_namespace
type: AnnotationProperty
definition: Name space of the ontology.
comment: disease_ontology
label: 有_obo_命名空间

has_related_synonym
type: AnnotationProperty
label: oboInOwl:hasRelatedSynonym

id
type: AnnotationProperty
definition: 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.

in subset
type: AnnotationProperty
definition: An association that connects the concept defining a particular terminology subset with concepts that belong to this subset.
definition: In subset.
alternative_term: Concept_In_Subset
label: in_subset

shorthand
type: AnnotationProperty

comment
type: AnnotationProperty
definition: Comment.

rdfs:isDefinedBy
type: AnnotationProperty
definition: Is defined by.

label
type: AnnotationProperty
editor preferred label: label
definition: A human readable name for this class.
label: 标签

see also
type: AnnotationProperty
has_obo_namespace: uberon
id: seeAlso
is class level: true
is metadata tag: true
shorthand: seeAlso
label: seeAlso

depicted by
type: AnnotationProperty
has_obo_namespace: uberon
id: depicted_by
is metadata tag: true
shorthand: depicted_by

fromArticle
type: AnnotationProperty
description: Concept is taken from other resources than PubMed

fromEPILONT
type: AnnotationProperty
description: concept is derived from Epilepsy Ontology (EPILONT) https://bioportal.bioontology.org/ontologies/EPILONT

fromESSO
type: AnnotationProperty
description: concept is derived from Epilepsy Syndrome Seizure Ontology (ESSO) https://bioportal.bioontology.org/ontologies/ESSO

fromEpSO
type: AnnotationProperty
description: concept isderived from Epilepsy and Seizure Ontology (EpSO) https://bioportal.bioontology.org/ontologies/EPSO

fromILAE
type: AnnotationProperty
description: concept is derived from International League Against Epilpesy (ILAE) seizure classification (https://www.epilepsydiagnosis.org/index.html

fromNCBIBook
type: AnnotationProperty
description: Concept is taken from NCBI book

fromPubMed
type: AnnotationProperty
description: Concepts is taken from PubMed article

isClassificationFor
type: ObjectProperty
has definition: The subject classifies the object.

isBrainConnectivityFor
type: ObjectProperty
has definition: The subject describes the estimated relation between brain regions (object).

isRiskFactorFor
type: ObjectProperty
has definition: The subject is a risk factor the the object.

isDiagnosisFor
type: ObjectProperty
has definition: The subject describes a diagnosis for the object.

isSignAndSymptomFor
type: ObjectProperty
has definition: The subject describes as sign/symptom or multiple signs/symptoms for the object.

isSyndromeFor
type: ObjectProperty
has definition: The subject describes a syndrome for the object.

isImitatorFor
type: ObjectProperty
has definition: The subject describes the object's limitation.

isEtiologyFor
type: ObjectProperty
has definition: The subject is the cause (etiology) for the object.

isSeizureClassificationFor
type: ObjectProperty
has definition: The subject assignes the object a seizure class.

isTreatmentFor
type: ObjectProperty
has definition: The subject describes a treatment for the object.

isAnatomicalEntityFor
type: ObjectProperty
has definition: The subject describes an anatomical feature of the references object.

isCellularProcessFor
type: ObjectProperty
has definition: The subject describes any process that is carried out at the cellular level, but not necessarily restricted to a single cell for the object.

entity
type: Class
subclass of: Thing
BFO OWL specification label: entity
BFO CLIF specification label: Entity
example of usage: Julius Caesar
example of usage: Verdi’s Requiem
example of usage: the Second World War
example of usage: your body mass index
editor note: 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
editor note: 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
imported from: ero.owl
imported from: mondo.owl
imported from: obi.owl
elucidation: An entity is anything that exists or has existed or will exist. (axiom label in BFO2 Reference: [001-001])

Axiom
annotated source: entity
annotated property: editor note
annotated target: 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
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/0000004
comment: per discussion with Barry Smith

Axiom
annotated source: entity
annotated property: elucidation
annotated target: An entity is anything that exists or has existed or will exist. (axiom label in BFO2 Reference: [001-001])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/001-001

continuant
type: Class
subclass of: entity
disjoint with: occurrent
BFO OWL specification label: continuant
BFO CLIF specification label: Continuant
definition: 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.
editor note: 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
editor note: 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
imported from: nbo.owl
elucidation: 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])
has associated axiom(nl): 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])
has associated axiom(nl): 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])
has associated axiom(nl): 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])
has associated axiom(fol): (forall (x y) (if (and (Continuant x) (exists (t) (continuantPartOfAt y x t))) (Continuant y))) // axiom label in BFO2 CLIF: [009-002]
has associated axiom(fol): (forall (x y) (if (and (Continuant x) (exists (t) (hasContinuantPartOfAt y x t))) (Continuant y))) // axiom label in BFO2 CLIF: [126-001]
has associated axiom(fol): (forall (x) (if (Continuant x) (Entity x))) // axiom label in BFO2 CLIF: [008-002]
has associated axiom(fol): (forall (x) (if (Material Entity x) (exists (t) (and (TemporalRegion t) (existsAt x t))))) // axiom label in BFO2 CLIF: [011-002]

Axiom
annotated source: continuant
annotated property: has associated axiom(fol)
annotated target: (forall (x) (if (Continuant x) (Entity x))) // axiom label in BFO2 CLIF: [008-002]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/008-002

Axiom
annotated source: continuant
annotated property: has associated axiom(fol)
annotated target: (forall (x) (if (Material Entity x) (exists (t) (and (TemporalRegion t) (existsAt x t))))) // axiom label in BFO2 CLIF: [011-002]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/011-002

Axiom
annotated source: continuant
annotated property: editor note
annotated target: 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
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/0000007

Axiom
annotated source: continuant
annotated property: elucidation
annotated target: 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])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/008-002

Axiom
annotated source: continuant
annotated property: has associated axiom(nl)
annotated target: 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])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/126-001

Axiom
annotated source: continuant
annotated property: has associated axiom(nl)
annotated target: 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])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/009-002

Axiom
annotated source: continuant
annotated property: has associated axiom(nl)
annotated target: 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])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/011-002

Axiom
annotated source: continuant
annotated property: has associated axiom(fol)
annotated target: (forall (x y) (if (and (Continuant x) (exists (t) (continuantPartOfAt y x t))) (Continuant y))) // axiom label in BFO2 CLIF: [009-002]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/009-002

Axiom
annotated source: continuant
annotated property: has associated axiom(fol)
annotated target: (forall (x y) (if (and (Continuant x) (exists (t) (hasContinuantPartOfAt y x t))) (Continuant y))) // axiom label in BFO2 CLIF: [126-001]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/126-001

occurrent
type: Class
subclass of: entity
BFO OWL specification label: occurrent
BFO CLIF specification label: Occurrent
definition: An entity that has temporal parts and that happens, unfolds or develops through time.
editor note: 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
editor note: 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.
editor note: 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.
editor note: 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.
imported from: ero.owl
imported from: nbo.owl
imported from: obi.owl
elucidation: 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])
has associated axiom(nl): Every occurrent occupies_spatiotemporal_region some spatiotemporal region. (axiom label in BFO2 Reference: [108-001])
has associated axiom(nl): b is an occurrent entity iff b is an entity that has temporal parts. (axiom label in BFO2 Reference: [079-001])
has associated axiom(fol): (forall (x) (iff (Occurrent x) (and (Entity x) (exists (y) (temporalPartOf y x))))) // axiom label in BFO2 CLIF: [079-001]

Axiom
annotated source: occurrent
annotated property: editor note
annotated target: 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.
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/0000006
comment: per discussion with Barry Smith

Axiom
annotated source: occurrent
annotated property: editor note
annotated target: 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.
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/0000012

Axiom
annotated source: occurrent
annotated property: elucidation
annotated target: 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])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/077-002

Axiom
annotated source: occurrent
annotated property: has associated axiom(nl)
annotated target: Every occurrent occupies_spatiotemporal_region some spatiotemporal region. (axiom label in BFO2 Reference: [108-001])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/108-001

Axiom
annotated source: occurrent
annotated property: has associated axiom(nl)
annotated target: b is an occurrent entity iff b is an entity that has temporal parts. (axiom label in BFO2 Reference: [079-001])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/079-001

Axiom
annotated source: occurrent
annotated property: has associated axiom(fol)
annotated target: (forall (x) (iff (Occurrent x) (and (Entity x) (exists (y) (temporalPartOf y x))))) // axiom label in BFO2 CLIF: [079-001]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/079-001

independent continuant
type: Class
subclass of: continuant
disjoint with: specifically dependent continuant
disjoint with: generically dependent continuant
BFO OWL specification label: ic
BFO CLIF specification label: IndependentContinuant
example of usage: a chair
example of usage: a heart
example of usage: a leg
example of usage: a molecule
example of usage: a spatial region
example of usage: an atom
example of usage: an orchestra.
example of usage: an organism
example of usage: the bottom right portion of a human torso
example of usage: the interior of your mouth
definition: 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])
has associated axiom(nl): 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])
has associated axiom(nl): 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])
has associated axiom(fol): (forall (x t) (if (IndependentContinuant x) (exists (r) (and (SpatialRegion r) (locatedInAt x r t))))) // axiom label in BFO2 CLIF: [134-001]
has associated axiom(fol): (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]
has associated axiom(fol): (iff (IndependentContinuant a) (and (Continuant a) (not (exists (b t) (specificallyDependsOnAt a b t))))) // axiom label in BFO2 CLIF: [017-002]

Axiom
annotated source: independent continuant
annotated property: definition
annotated target: 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])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/017-002

Axiom
annotated source: independent continuant
annotated property: has associated axiom(nl)
annotated target: 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])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/134-001

Axiom
annotated source: independent continuant
annotated property: has associated axiom(nl)
annotated target: 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])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/018-002

Axiom
annotated source: independent continuant
annotated property: has associated axiom(fol)
annotated target: (forall (x t) (if (IndependentContinuant x) (exists (r) (and (SpatialRegion r) (locatedInAt x r t))))) // axiom label in BFO2 CLIF: [134-001]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/134-001

Axiom
annotated source: independent continuant
annotated property: has associated axiom(fol)
annotated target: (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]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/018-002

Axiom
annotated source: independent continuant
annotated property: has associated axiom(fol)
annotated target: (iff (IndependentContinuant a) (and (Continuant a) (not (exists (b t) (specificallyDependsOnAt a b t))))) // axiom label in BFO2 CLIF: [017-002]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/017-002

spatial region
type: Class
subclass of: immaterial entity
disjoint with: site
disjoint with: continuant fiat boundary
BFO OWL specification label: s-region
BFO CLIF specification label: SpatialRegion
editor note: BFO 2 Reference: Spatial regions do not participate in processes.
editor note: 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.
elucidation: 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])
has associated axiom(nl): All continuant parts of spatial regions are spatial regions. (axiom label in BFO2 Reference: [036-001])
has associated axiom(fol): (forall (x y t) (if (and (SpatialRegion x) (continuantPartOfAt y x t)) (SpatialRegion y))) // axiom label in BFO2 CLIF: [036-001]
has associated axiom(fol): (forall (x) (if (SpatialRegion x) (Continuant x))) // axiom label in BFO2 CLIF: [035-001]

Axiom
annotated source: spatial region
annotated property: editor note
annotated target: 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.
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/0000002
comment: per discussion with Barry Smith

Axiom
annotated source: spatial region
annotated property: elucidation
annotated target: 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])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/035-001

Axiom
annotated source: spatial region
annotated property: has associated axiom(nl)
annotated target: All continuant parts of spatial regions are spatial regions. (axiom label in BFO2 Reference: [036-001])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/036-001

Axiom
annotated source: spatial region
annotated property: has associated axiom(fol)
annotated target: (forall (x y t) (if (and (SpatialRegion x) (continuantPartOfAt y x t)) (SpatialRegion y))) // axiom label in BFO2 CLIF: [036-001]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/036-001

Axiom
annotated source: spatial region
annotated property: has associated axiom(fol)
annotated target: (forall (x) (if (SpatialRegion x) (Continuant x))) // axiom label in BFO2 CLIF: [035-001]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/035-001

temporal region
type: Class
subclass of: occurrent
disjoint with: spatiotemporal region
disjoint with: process
disjoint with: process boundary
BFO OWL specification label: t-region
BFO CLIF specification label: TemporalRegion
editor note: 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
elucidation: 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])
has associated axiom(nl): All parts of temporal regions are temporal regions. (axiom label in BFO2 Reference: [101-001])
has associated axiom(nl): Every temporal region t is such that t occupies_temporal_region t. (axiom label in BFO2 Reference: [119-002])
has associated axiom(fol): (forall (x y) (if (and (TemporalRegion x) (occurrentPartOf y x)) (TemporalRegion y))) // axiom label in BFO2 CLIF: [101-001]
has associated axiom(fol): (forall (x) (if (TemporalRegion x) (Occurrent x))) // axiom label in BFO2 CLIF: [100-001]

Axiom
annotated source: temporal region
annotated property: editor note
annotated target: 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
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/0000003
comment: per discussion with Barry Smith

Axiom
annotated source: temporal region
annotated property: elucidation
annotated target: 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])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/100-001

Axiom
annotated source: temporal region
annotated property: has associated axiom(nl)
annotated target: All parts of temporal regions are temporal regions. (axiom label in BFO2 Reference: [101-001])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/101-001

Axiom
annotated source: temporal region
annotated property: has associated axiom(nl)
annotated target: Every temporal region t is such that t occupies_temporal_region t. (axiom label in BFO2 Reference: [119-002])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/119-002

Axiom
annotated source: temporal region
annotated property: has associated axiom(fol)
annotated target: (forall (x y) (if (and (TemporalRegion x) (occurrentPartOf y x)) (TemporalRegion y))) // axiom label in BFO2 CLIF: [101-001]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/101-001

Axiom
annotated source: temporal region
annotated property: has associated axiom(fol)
annotated target: (forall (x) (if (TemporalRegion x) (Occurrent x))) // axiom label in BFO2 CLIF: [100-001]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/100-001

two-dimensional spatial region
type: Class
subclass of: spatial region
disjoint with: three-dimensional spatial region
BFO OWL specification label: 2d-s-region
BFO CLIF specification label: TwoDimensionalSpatialRegion
example of usage: an infinitely thin plane in space.
example of usage: the surface of a sphere-shaped part of space
elucidation: A two-dimensional spatial region is a spatial region that is of two dimensions. (axiom label in BFO2 Reference: [039-001])
has associated axiom(fol): (forall (x) (if (TwoDimensionalSpatialRegion x) (SpatialRegion x))) // axiom label in BFO2 CLIF: [039-001]

Axiom
annotated source: two-dimensional spatial region
annotated property: elucidation
annotated target: A two-dimensional spatial region is a spatial region that is of two dimensions. (axiom label in BFO2 Reference: [039-001])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/039-001

Axiom
annotated source: two-dimensional spatial region
annotated property: has associated axiom(fol)
annotated target: (forall (x) (if (TwoDimensionalSpatialRegion x) (SpatialRegion x))) // axiom label in BFO2 CLIF: [039-001]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/039-001

spatiotemporal region
type: Class
subclass of: occurrent
BFO OWL specification label: st-region
BFO CLIF specification label: SpatiotemporalRegion
example of usage: the spatiotemporal region occupied by a human life
example of usage: the spatiotemporal region occupied by a process of cellular meiosis.
example of usage: the spatiotemporal region occupied by the development of a cancer tumor
elucidation: A spatiotemporal region is an occurrent entity that is part of spacetime. (axiom label in BFO2 Reference: [095-001])
has associated axiom(nl): All parts of spatiotemporal regions are spatiotemporal regions. (axiom label in BFO2 Reference: [096-001])
has associated axiom(nl): Each spatiotemporal region at any time t projects_onto some spatial region at t. (axiom label in BFO2 Reference: [099-001])
has associated axiom(nl): Each spatiotemporal region projects_onto some temporal region. (axiom label in BFO2 Reference: [098-001])
has associated axiom(nl): Every spatiotemporal region occupies_spatiotemporal_region itself.
has associated axiom(nl): Every spatiotemporal region s is such that s occupies_spatiotemporal_region s. (axiom label in BFO2 Reference: [107-002])
has associated axiom(fol): (forall (r) (if (SpatioTemporalRegion r) (occupiesSpatioTemporalRegion r r))) // axiom label in BFO2 CLIF: [107-002]
has associated axiom(fol): (forall (x t) (if (SpatioTemporalRegion x) (exists (y) (and (SpatialRegion y) (spatiallyProjectsOntoAt x y t))))) // axiom label in BFO2 CLIF: [099-001]
has associated axiom(fol): (forall (x y) (if (and (SpatioTemporalRegion x) (occurrentPartOf y x)) (SpatioTemporalRegion y))) // axiom label in BFO2 CLIF: [096-001]
has associated axiom(fol): (forall (x) (if (SpatioTemporalRegion x) (Occurrent x))) // axiom label in BFO2 CLIF: [095-001]
has associated axiom(fol): (forall (x) (if (SpatioTemporalRegion x) (exists (y) (and (TemporalRegion y) (temporallyProjectsOnto x y))))) // axiom label in BFO2 CLIF: [098-001]

Axiom
annotated source: spatiotemporal region
annotated property: elucidation
annotated target: A spatiotemporal region is an occurrent entity that is part of spacetime. (axiom label in BFO2 Reference: [095-001])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/095-001

Axiom
annotated source: spatiotemporal region
annotated property: has associated axiom(nl)
annotated target: All parts of spatiotemporal regions are spatiotemporal regions. (axiom label in BFO2 Reference: [096-001])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/096-001

Axiom
annotated source: spatiotemporal region
annotated property: has associated axiom(nl)
annotated target: Each spatiotemporal region at any time t projects_onto some spatial region at t. (axiom label in BFO2 Reference: [099-001])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/099-001

Axiom
annotated source: spatiotemporal region
annotated property: has associated axiom(nl)
annotated target: Each spatiotemporal region projects_onto some temporal region. (axiom label in BFO2 Reference: [098-001])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/098-001

Axiom
annotated source: spatiotemporal region
annotated property: has associated axiom(nl)
annotated target: Every spatiotemporal region s is such that s occupies_spatiotemporal_region s. (axiom label in BFO2 Reference: [107-002])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/107-002

Axiom
annotated source: spatiotemporal region
annotated property: has associated axiom(fol)
annotated target: (forall (r) (if (SpatioTemporalRegion r) (occupiesSpatioTemporalRegion r r))) // axiom label in BFO2 CLIF: [107-002]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/107-002

Axiom
annotated source: spatiotemporal region
annotated property: has associated axiom(fol)
annotated target: (forall (x t) (if (SpatioTemporalRegion x) (exists (y) (and (SpatialRegion y) (spatiallyProjectsOntoAt x y t))))) // axiom label in BFO2 CLIF: [099-001]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/099-001

Axiom
annotated source: spatiotemporal region
annotated property: has associated axiom(fol)
annotated target: (forall (x y) (if (and (SpatioTemporalRegion x) (occurrentPartOf y x)) (SpatioTemporalRegion y))) // axiom label in BFO2 CLIF: [096-001]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/096-001

Axiom
annotated source: spatiotemporal region
annotated property: has associated axiom(fol)
annotated target: (forall (x) (if (SpatioTemporalRegion x) (Occurrent x))) // axiom label in BFO2 CLIF: [095-001]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/095-001

Axiom
annotated source: spatiotemporal region
annotated property: has associated axiom(fol)
annotated target: (forall (x) (if (SpatioTemporalRegion x) (exists (y) (and (TemporalRegion y) (temporallyProjectsOnto x y))))) // axiom label in BFO2 CLIF: [098-001]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/098-001

process
type: Class
subclass of: occurrent
BFO OWL specification label: process
BFO CLIF specification label: Process
example of usage: a process of cell-division, \ a beating of the heart
example of usage: a process of meiosis
example of usage: a process of sleeping
example of usage: the course of a disease
example of usage: the flight of a bird
example of usage: the life of an organism
example of usage: your process of aging.
definition: An occurrent that has temporal proper parts and for some time t, p s-depends_on some material entity at t.
definition: 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])
editor note: 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)
imported from: ero.owl
imported from: nbo.owl
imported from: obi.owl
imported from: ogms.owl
has associated axiom(fol): (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]

Axiom
annotated source: process
annotated property: definition
annotated target: 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])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/083-003

Axiom
annotated source: process
annotated property: has associated axiom(fol)
annotated target: (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]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/083-003

disposition
type: Class
subclass of: realizable entity
disjoint with: role
BFO OWL specification label: disposition
BFO CLIF specification label: Disposition
example of usage: an atom of element X has the disposition to decay to an atom of element Y
example of usage: certain people have a predisposition to colon cancer
example of usage: children are innately disposed to categorize objects in certain ways.
example of usage: the cell wall is disposed to filter chemicals in endocytosis and exocytosis
editor note: 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.
imported from: mf.owl
imported from: ogms.owl
elucidation: 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])
has associated axiom(nl): 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])
has associated axiom(fol): (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]
has associated axiom(fol): (forall (x) (if (Disposition x) (and (RealizableEntity x) (exists (y) (and (MaterialEntity y) (bearerOfAt x y t)))))) // axiom label in BFO2 CLIF: [062-002]

Axiom
annotated source: disposition
annotated property: elucidation
annotated target: 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])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/062-002

Axiom
annotated source: disposition
annotated property: has associated axiom(nl)
annotated target: 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])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/063-002

Axiom
annotated source: disposition
annotated property: has associated axiom(fol)
annotated target: (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]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/063-002

Axiom
annotated source: disposition
annotated property: has associated axiom(fol)
annotated target: (forall (x) (if (Disposition x) (and (RealizableEntity x) (exists (y) (and (MaterialEntity y) (bearerOfAt x y t)))))) // axiom label in BFO2 CLIF: [062-002]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/062-002

realizable entity
type: Class
subclass of: specifically dependent continuant
disjoint with: quality
BFO OWL specification label: realizable
BFO CLIF specification label: RealizableEntity
example of usage: the disposition of this piece of metal to conduct electricity.
example of usage: the disposition of your blood to coagulate
example of usage: the function of your reproductive organs
example of usage: the role of being a doctor
example of usage: the role of this boundary to delineate where Utah and Colorado meet
elucidation: 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])
has associated axiom(nl): All realizable dependent continuants have independent continuants that are not spatial regions as their bearers. (axiom label in BFO2 Reference: [060-002])
has associated axiom(fol): (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]
has associated axiom(fol): (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]

Axiom
annotated source: realizable entity
annotated property: elucidation
annotated target: 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])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/058-002

Axiom
annotated source: realizable entity
annotated property: has associated axiom(nl)
annotated target: All realizable dependent continuants have independent continuants that are not spatial regions as their bearers. (axiom label in BFO2 Reference: [060-002])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/060-002

Axiom
annotated source: realizable entity
annotated property: has associated axiom(fol)
annotated target: (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]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/060-002

Axiom
annotated source: realizable entity
annotated property: has associated axiom(fol)
annotated target: (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]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/058-002

zero-dimensional spatial region
type: Class
subclass of: spatial region
disjoint with: three-dimensional spatial region
BFO OWL specification label: 0d-s-region
BFO CLIF specification label: ZeroDimensionalSpatialRegion
elucidation: A zero-dimensional spatial region is a point in space. (axiom label in BFO2 Reference: [037-001])
has associated axiom(fol): (forall (x) (if (ZeroDimensionalSpatialRegion x) (SpatialRegion x))) // axiom label in BFO2 CLIF: [037-001]

Axiom
annotated source: zero-dimensional spatial region
annotated property: elucidation
annotated target: A zero-dimensional spatial region is a point in space. (axiom label in BFO2 Reference: [037-001])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/037-001

Axiom
annotated source: zero-dimensional spatial region
annotated property: has associated axiom(fol)
annotated target: (forall (x) (if (ZeroDimensionalSpatialRegion x) (SpatialRegion x))) // axiom label in BFO2 CLIF: [037-001]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/037-001

quality
type: Class
subclass of: specifically dependent continuant
BFO OWL specification label: quality
BFO CLIF specification label: Quality
example of usage: the ambient temperature of this portion of air
example of usage: the color of a tomato
example of usage: the length of the circumference of your waist
example of usage: the mass of this piece of gold.
example of usage: the shape of your nose
example of usage: the shape of your nostril
imported from: omit.owl
elucidation: 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])
has associated axiom(nl): 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])
has associated axiom(fol): (forall (x) (if (Quality x) (SpecificallyDependentContinuant x))) // axiom label in BFO2 CLIF: [055-001]
has associated axiom(fol): (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]

Axiom
annotated source: quality
annotated property: elucidation
annotated target: 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])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/055-001

Axiom
annotated source: quality
annotated property: has associated axiom(nl)
annotated target: 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])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/105-001

Axiom
annotated source: quality
annotated property: has associated axiom(fol)
annotated target: (forall (x) (if (Quality x) (SpecificallyDependentContinuant x))) // axiom label in BFO2 CLIF: [055-001]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/055-001

Axiom
annotated source: quality
annotated property: has associated axiom(fol)
annotated target: (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]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/105-001

specifically dependent continuant
type: Class
subclass of: continuant
disjoint with: generically dependent continuant
BFO OWL specification label: sdc
BFO CLIF specification label: SpecificallyDependentContinuant
example of usage: 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
example of usage: of one-sided specifically dependent continuants: the mass of this tomato
example of usage: 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.
example of usage: the disposition of this fish to decay
example of usage: the function of this heart: to pump blood
example of usage: the mutual dependence of proton donors and acceptors in chemical reactions [79
example of usage: the mutual dependence of the role predator and the role prey as played by two organisms in a given interaction
example of usage: the pink color of a medium rare piece of grilled filet mignon at its center
example of usage: the role of being a doctor
example of usage: the shape of this hole.
example of usage: the smell of this portion of mozzarella
definition: 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.
definition: 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])
editor note: 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.
imported from: nbo.owl
has associated axiom(fol): (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]

Axiom
annotated source: specifically dependent continuant
annotated property: definition
annotated target: 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])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/050-003

Axiom
annotated source: specifically dependent continuant
annotated property: editor note
annotated target: 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.
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/0000005
comment: per discussion with Barry Smith

Axiom
annotated source: specifically dependent continuant
annotated property: has associated axiom(fol)
annotated target: (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]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/050-003

role
type: Class
subclass of: realizable entity
BFO OWL specification label: role
BFO CLIF specification label: Role
example of usage: 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.
example of usage: the priest role
example of usage: the role of a boundary to demarcate two neighboring administrative territories
example of usage: the role of a building in serving as a military target
example of usage: the role of a stone in marking a property boundary
example of usage: the role of subject in a clinical trial
example of usage: the student role
editor note: 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.
elucidation: 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])
has associated axiom(fol): (forall (x) (if (Role x) (RealizableEntity x))) // axiom label in BFO2 CLIF: [061-001]

Axiom
annotated source: role
annotated property: elucidation
annotated target: 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])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/061-001

Axiom
annotated source: role
annotated property: has associated axiom(fol)
annotated target: (forall (x) (if (Role x) (RealizableEntity x))) // axiom label in BFO2 CLIF: [061-001]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/061-001

fiat object part
type: Class
subclass of: material entity
BFO OWL specification label: fiat-object-part
BFO CLIF specification label: FiatObjectPart
example of usage: 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
example of usage: the FMA:regional parts of an intact human body.
example of usage: the Western hemisphere of the Earth
example of usage: the division of the brain into regions
example of usage: the division of the planet into hemispheres
example of usage: the dorsal and ventral surfaces of the body
example of usage: the upper and lower lobes of the left lung
editor note: BFO 2 Reference: Most examples of fiat object parts are associated with theoretically drawn divisions
elucidation: 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])
has associated axiom(fol): (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]

Axiom
annotated source: fiat object part
annotated property: elucidation
annotated target: 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])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/027-004

Axiom
annotated source: fiat object part
annotated property: has associated axiom(fol)
annotated target: (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]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/027-004

one-dimensional spatial region
type: Class
subclass of: spatial region
disjoint with: three-dimensional spatial region
BFO OWL specification label: 1d-s-region
BFO CLIF specification label: OneDimensionalSpatialRegion
example of usage: an edge of a cube-shaped portion of space.
elucidation: 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])
has associated axiom(fol): (forall (x) (if (OneDimensionalSpatialRegion x) (SpatialRegion x))) // axiom label in BFO2 CLIF: [038-001]

Axiom
annotated source: one-dimensional spatial region
annotated property: elucidation
annotated target: 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])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/038-001

Axiom
annotated source: one-dimensional spatial region
annotated property: has associated axiom(fol)
annotated target: (forall (x) (if (OneDimensionalSpatialRegion x) (SpatialRegion x))) // axiom label in BFO2 CLIF: [038-001]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/038-001

object aggregate
type: Class
subclass of: material entity
BFO OWL specification label: object-aggregate
BFO CLIF specification label: ObjectAggregate
example of usage: a collection of cells in a blood biobank.
example of usage: a swarm of bees is an aggregate of members who are linked together through natural bonds
example of usage: a symphony orchestra
example of usage: 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)
example of usage: defined by fiat: the aggregate of members of an organization
example of usage: defined through physical attachment: the aggregate of atoms in a lump of granite
example of usage: defined through physical containment: the aggregate of molecules of carbon dioxide in a sealed container
example of usage: defined via attributive delimitations such as: the patients in this hospital
example of usage: the aggregate of bearings in a constant velocity axle joint
example of usage: the aggregate of blood cells in your body
example of usage: the nitrogen atoms in the atmosphere
example of usage: the restaurants in Palo Alto
example of usage: your collection of Meissen ceramic plates.
editor note: An entity a is an object aggregate if and only if there is a mutually exhaustive and pairwise disjoint partition of a into objects
editor note: 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).
definition source: 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.
elucidation: 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])
has associated axiom(fol): (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]

Axiom
annotated source: object aggregate
annotated property: editor note
annotated target: An entity a is an object aggregate if and only if there is a mutually exhaustive and pairwise disjoint partition of a into objects
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/0000011

Axiom
annotated source: object aggregate
annotated property: editor note
annotated target: An entity a is an object aggregate if and only if there is a mutually exhaustive and pairwise disjoint partition of a into objects
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/0000011

Axiom
annotated source: object aggregate
annotated property: editor note
annotated target: An entity a is an object aggregate if and only if there is a mutually exhaustive and pairwise disjoint partition of a into objects
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/0000301

Axiom
annotated source: object aggregate
annotated property: definition source
annotated target: 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.
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/0000300

Axiom
annotated source: object aggregate
annotated property: elucidation
annotated target: 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])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/025-004

Axiom
annotated source: object aggregate
annotated property: has associated axiom(fol)
annotated target: (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]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/025-004

three-dimensional spatial region
type: Class
subclass of: spatial region
BFO OWL specification label: 3d-s-region
BFO CLIF specification label: ThreeDimensionalSpatialRegion
example of usage: a cube-shaped region of space
example of usage: a sphere-shaped region of space,
elucidation: A three-dimensional spatial region is a spatial region that is of three dimensions. (axiom label in BFO2 Reference: [040-001])
has associated axiom(fol): (forall (x) (if (ThreeDimensionalSpatialRegion x) (SpatialRegion x))) // axiom label in BFO2 CLIF: [040-001]

Axiom
annotated source: three-dimensional spatial region
annotated property: elucidation
annotated target: A three-dimensional spatial region is a spatial region that is of three dimensions. (axiom label in BFO2 Reference: [040-001])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/040-001

Axiom
annotated source: three-dimensional spatial region
annotated property: has associated axiom(fol)
annotated target: (forall (x) (if (ThreeDimensionalSpatialRegion x) (SpatialRegion x))) // axiom label in BFO2 CLIF: [040-001]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/040-001

site
type: Class
subclass of: immaterial entity
BFO OWL specification label: site
BFO CLIF specification label: Site
example of usage: Manhattan Canyon)
example of usage: a hole in the interior of a portion of cheese
example of usage: a rabbit hole
example of usage: an air traffic control region defined in the airspace above an airport
example of usage: the Grand Canyon
example of usage: the Piazza San Marco
example of usage: the cockpit of an aircraft
example of usage: the hold of a ship
example of usage: the interior of a kangaroo pouch
example of usage: the interior of the trunk of your car
example of usage: the interior of your bedroom
example of usage: the interior of your office
example of usage: the interior of your refrigerator
example of usage: the lumen of your gut
example of usage: your left nostril (a fiat part – the opening – of your left nasal cavity)
elucidation: 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])
has associated axiom(fol): (forall (x) (if (Site x) (ImmaterialEntity x))) // axiom label in BFO2 CLIF: [034-002]

Axiom
annotated source: site
annotated property: elucidation
annotated target: 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])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/034-002

Axiom
annotated source: site
annotated property: has associated axiom(fol)
annotated target: (forall (x) (if (Site x) (ImmaterialEntity x))) // axiom label in BFO2 CLIF: [034-002]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/034-002

object
type: Class
subclass of: material entity
BFO OWL specification label: object
BFO CLIF specification label: Object
example of usage: atom
example of usage: cell
example of usage: cells and organisms
example of usage: engineered artifacts
example of usage: grain of sand
example of usage: molecule
example of usage: organelle
example of usage: organism
example of usage: planet
example of usage: solid portions of matter
example of usage: star
editor note: 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.
editor note: 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).
editor note: 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
editor note: BFO 2 Reference: an object is a maximal causally unified material entity
editor note: BFO 2 Reference: ‘objects’ are sometimes referred to as ‘grains’ [74
elucidation: 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])

Axiom
annotated source: object
annotated property: elucidation
annotated target: 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])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/024-001

generically dependent continuant
type: Class
subclass of: continuant
BFO OWL specification label: gdc
BFO CLIF specification label: GenericallyDependentContinuant
example of usage: 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.
example of usage: the pdf file on your laptop, the pdf file that is a copy thereof on my laptop
example of usage: the sequence of this protein molecule; the sequence that is a copy thereof in that protein molecule.
definition: 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])
has associated axiom(fol): (iff (GenericallyDependentContinuant a) (and (Continuant a) (exists (b t) (genericallyDependsOnAt a b t)))) // axiom label in BFO2 CLIF: [074-001]

Axiom
annotated source: generically dependent continuant
annotated property: definition
annotated target: 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])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/074-001

Axiom
annotated source: generically dependent continuant
annotated property: has associated axiom(fol)
annotated target: (iff (GenericallyDependentContinuant a) (and (Continuant a) (exists (b t) (genericallyDependsOnAt a b t)))) // axiom label in BFO2 CLIF: [074-001]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/074-001

function
type: Class
subclass of: disposition
BFO OWL specification label: function
BFO CLIF specification label: Function
example of usage: the function of a hammer to drive in nails
example of usage: the function of a heart pacemaker to regulate the beating of a heart through electricity
example of usage: the function of amylase in saliva to break down starch into sugar
editor note: 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.
elucidation: 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])
has associated axiom(fol): (forall (x) (if (Function x) (Disposition x))) // axiom label in BFO2 CLIF: [064-001]

Axiom
annotated source: function
annotated property: elucidation
annotated target: 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])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/064-001

Axiom
annotated source: function
annotated property: has associated axiom(fol)
annotated target: (forall (x) (if (Function x) (Disposition x))) // axiom label in BFO2 CLIF: [064-001]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/064-001

process boundary
type: Class
subclass of: occurrent
BFO OWL specification label: p-boundary
BFO CLIF specification label: ProcessBoundary
example of usage: the boundary between the 2nd and 3rd year of your life.
definition: 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])
has associated axiom(nl): Every process boundary occupies_temporal_region a zero-dimensional temporal region. (axiom label in BFO2 Reference: [085-002])
has associated axiom(fol): (forall (x) (if (ProcessBoundary x) (exists (y) (and (ZeroDimensionalTemporalRegion y) (occupiesTemporalRegion x y))))) // axiom label in BFO2 CLIF: [085-002]
has associated axiom(fol): (iff (ProcessBoundary a) (exists (p) (and (Process p) (temporalPartOf a p) (not (exists (b) (properTemporalPartOf b a)))))) // axiom label in BFO2 CLIF: [084-001]

Axiom
annotated source: process boundary
annotated property: definition
annotated target: 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])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/084-001

Axiom
annotated source: process boundary
annotated property: has associated axiom(nl)
annotated target: Every process boundary occupies_temporal_region a zero-dimensional temporal region. (axiom label in BFO2 Reference: [085-002])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/085-002

Axiom
annotated source: process boundary
annotated property: has associated axiom(fol)
annotated target: (forall (x) (if (ProcessBoundary x) (exists (y) (and (ZeroDimensionalTemporalRegion y) (occupiesTemporalRegion x y))))) // axiom label in BFO2 CLIF: [085-002]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/085-002

Axiom
annotated source: process boundary
annotated property: has associated axiom(fol)
annotated target: (iff (ProcessBoundary a) (exists (p) (and (Process p) (temporalPartOf a p) (not (exists (b) (properTemporalPartOf b a)))))) // axiom label in BFO2 CLIF: [084-001]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/084-001

one-dimensional temporal region
type: Class
subclass of: temporal region
disjoint with: zero-dimensional temporal region
BFO OWL specification label: 1d-t-region
BFO CLIF specification label: OneDimensionalTemporalRegion
example of usage: the temporal region during which a process occurs.
editor note: 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).
elucidation: A one-dimensional temporal region is a temporal region that is extended. (axiom label in BFO2 Reference: [103-001])
has associated axiom(fol): (forall (x) (if (OneDimensionalTemporalRegion x) (TemporalRegion x))) // axiom label in BFO2 CLIF: [103-001]

Axiom
annotated source: one-dimensional temporal region
annotated property: elucidation
annotated target: A one-dimensional temporal region is a temporal region that is extended. (axiom label in BFO2 Reference: [103-001])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/103-001

Axiom
annotated source: one-dimensional temporal region
annotated property: has associated axiom(fol)
annotated target: (forall (x) (if (OneDimensionalTemporalRegion x) (TemporalRegion x))) // axiom label in BFO2 CLIF: [103-001]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/103-001

material entity
type: Class
subclass of: independent continuant
disjoint with: immaterial entity
BFO OWL specification label: material
BFO CLIF specification label: MaterialEntity
example of usage: a flame
example of usage: a forest fire
example of usage: a human being
example of usage: a hurricane
example of usage: a photon
example of usage: a puff of smoke
example of usage: a sea wave
example of usage: a tornado
example of usage: an aggregate of human beings.
example of usage: an energy wave
example of usage: an epidemic
example of usage: the undetached arm of a human being
editor note: 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
editor note: 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.
editor note: 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.
imported from: ogms.owl
elucidation: 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])
has associated axiom(nl): Every entity which has a material entity as continuant part is a material entity. (axiom label in BFO2 Reference: [020-002])
has associated axiom(nl): every entity of which a material entity is continuant part is also a material entity. (axiom label in BFO2 Reference: [021-002])
has associated axiom(fol): (forall (x) (if (MaterialEntity x) (IndependentContinuant x))) // axiom label in BFO2 CLIF: [019-002]
has associated axiom(fol): (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]
has associated axiom(fol): (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]

Axiom
annotated source: material entity
annotated property: elucidation
annotated target: 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])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/019-002

Axiom
annotated source: material entity
annotated property: has associated axiom(nl)
annotated target: Every entity which has a material entity as continuant part is a material entity. (axiom label in BFO2 Reference: [020-002])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/020-002

Axiom
annotated source: material entity
annotated property: has associated axiom(nl)
annotated target: every entity of which a material entity is continuant part is also a material entity. (axiom label in BFO2 Reference: [021-002])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/021-002

Axiom
annotated source: material entity
annotated property: has associated axiom(fol)
annotated target: (forall (x) (if (MaterialEntity x) (IndependentContinuant x))) // axiom label in BFO2 CLIF: [019-002]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/019-002

Axiom
annotated source: material entity
annotated property: has associated axiom(fol)
annotated target: (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]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/021-002

Axiom
annotated source: material entity
annotated property: has associated axiom(fol)
annotated target: (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]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/020-002

continuant fiat boundary
type: Class
subclass of: immaterial entity
BFO OWL specification label: cf-boundary
BFO CLIF specification label: ContinuantFiatBoundary
definition: 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])
editor note: 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.
editor note: 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
editor note: 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.
has associated axiom(nl): Every continuant fiat boundary is located at some spatial region at every time at which it exists
has associated axiom(fol): (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]

Axiom
annotated source: continuant fiat boundary
annotated property: editor note
annotated target: 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.
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/0000008

Axiom
annotated source: continuant fiat boundary
annotated property: has associated axiom(fol)
annotated target: (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]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/029-001

Axiom
annotated source: continuant fiat boundary
annotated property: definition
annotated target: 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])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/029-001

immaterial entity
type: Class
subclass of: independent continuant
BFO OWL specification label: immaterial
BFO CLIF specification label: ImmaterialEntity
editor note: 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

one-dimensional continuant fiat boundary
type: Class
subclass of: continuant fiat boundary
disjoint with: two-dimensional continuant fiat boundary
disjoint with: zero-dimensional continuant fiat boundary
BFO OWL specification label: 1d-cf-boundary
BFO CLIF specification label: OneDimensionalContinuantFiatBoundary
example of usage: The Equator
example of usage: all geopolitical boundaries
example of usage: all lines of latitude and longitude
example of usage: the line separating the outer surface of the mucosa of the lower lip from the outer surface of the skin of the chin.
example of usage: the median sulcus of your tongue
elucidation: 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])
has associated axiom(fol): (iff (OneDimensionalContinuantFiatBoundary a) (and (ContinuantFiatBoundary a) (exists (b) (and (OneDimensionalSpatialRegion b) (forall (t) (locatedInAt a b t)))))) // axiom label in BFO2 CLIF: [032-001]

Axiom
annotated source: one-dimensional continuant fiat boundary
annotated property: elucidation
annotated target: 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])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/032-001

Axiom
annotated source: one-dimensional continuant fiat boundary
annotated property: has associated axiom(fol)
annotated target: (iff (OneDimensionalContinuantFiatBoundary a) (and (ContinuantFiatBoundary a) (exists (b) (and (OneDimensionalSpatialRegion b) (forall (t) (locatedInAt a b t)))))) // axiom label in BFO2 CLIF: [032-001]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/032-001

process profile
type: Class
subclass of: process
disjoint with: history
BFO OWL specification label: process-profile
BFO CLIF specification label: ProcessProfile
example of usage: 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
example of usage: 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.
example of usage: 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.
definition: 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])
elucidation: 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])
has associated axiom(fol): (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]
has associated axiom(fol): (iff (ProcessProfile a) (exists (b) (and (Process b) (processProfileOf a b)))) // axiom label in BFO2 CLIF: [093-002]

Axiom
annotated source: process profile
annotated property: definition
annotated target: 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])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/093-002

Axiom
annotated source: process profile
annotated property: elucidation
annotated target: 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])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/094-005

Axiom
annotated source: process profile
annotated property: has associated axiom(fol)
annotated target: (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]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/094-005

Axiom
annotated source: process profile
annotated property: has associated axiom(fol)
annotated target: (iff (ProcessProfile a) (exists (b) (and (Process b) (processProfileOf a b)))) // axiom label in BFO2 CLIF: [093-002]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/093-002

relational quality
type: Class
subclass of: quality
BFO OWL specification label: r-quality
BFO CLIF specification label: RelationalQuality
example of usage: 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.
example of usage: a marriage bond, an instance of requited love, an obligation between one person and another.
definition: 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])
has associated axiom(fol): (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]

Axiom
annotated source: relational quality
annotated property: definition
annotated target: 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])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/057-001

Axiom
annotated source: relational quality
annotated property: has associated axiom(fol)
annotated target: (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]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/057-001

two-dimensional continuant fiat boundary
type: Class
subclass of: continuant fiat boundary
BFO OWL specification label: 2d-cf-boundary
BFO CLIF specification label: TwoDimensionalContinuantFiatBoundary
elucidation: 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])
has associated axiom(fol): (iff (TwoDimensionalContinuantFiatBoundary a) (and (ContinuantFiatBoundary a) (exists (b) (and (TwoDimensionalSpatialRegion b) (forall (t) (locatedInAt a b t)))))) // axiom label in BFO2 CLIF: [033-001]

Axiom
annotated source: two-dimensional continuant fiat boundary
annotated property: elucidation
annotated target: 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])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/033-001

Axiom
annotated source: two-dimensional continuant fiat boundary
annotated property: has associated axiom(fol)
annotated target: (iff (TwoDimensionalContinuantFiatBoundary a) (and (ContinuantFiatBoundary a) (exists (b) (and (TwoDimensionalSpatialRegion b) (forall (t) (locatedInAt a b t)))))) // axiom label in BFO2 CLIF: [033-001]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/033-001

zero-dimensional continuant fiat boundary
type: Class
subclass of: continuant fiat boundary
BFO OWL specification label: 0d-cf-boundary
BFO CLIF specification label: ZeroDimensionalContinuantFiatBoundary
example of usage: the geographic North Pole
example of usage: the point of origin of some spatial coordinate system.
example of usage: the quadripoint where the boundaries of Colorado, Utah, New Mexico, and Arizona meet
editor note: 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.
elucidation: 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])
has associated axiom(fol): (iff (ZeroDimensionalContinuantFiatBoundary a) (and (ContinuantFiatBoundary a) (exists (b) (and (ZeroDimensionalSpatialRegion b) (forall (t) (locatedInAt a b t)))))) // axiom label in BFO2 CLIF: [031-001]

Axiom
annotated source: zero-dimensional continuant fiat boundary
annotated property: editor note
annotated target: 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.
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/0000001

Axiom
annotated source: zero-dimensional continuant fiat boundary
annotated property: elucidation
annotated target: 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])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/031-001

Axiom
annotated source: zero-dimensional continuant fiat boundary
annotated property: has associated axiom(fol)
annotated target: (iff (ZeroDimensionalContinuantFiatBoundary a) (and (ContinuantFiatBoundary a) (exists (b) (and (ZeroDimensionalSpatialRegion b) (forall (t) (locatedInAt a b t)))))) // axiom label in BFO2 CLIF: [031-001]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/031-001

zero-dimensional temporal region
type: Class
subclass of: temporal region
BFO OWL specification label: 0d-t-region
BFO CLIF specification label: ZeroDimensionalTemporalRegion
example of usage: a temporal region that is occupied by a process boundary
example of usage: right now
example of usage: the moment at which a child is born
example of usage: the moment at which a finger is detached in an industrial accident
example of usage: the moment of death.
alternative term: temporal instant.
elucidation: A zero-dimensional temporal region is a temporal region that is without extent. (axiom label in BFO2 Reference: [102-001])
has associated axiom(fol): (forall (x) (if (ZeroDimensionalTemporalRegion x) (TemporalRegion x))) // axiom label in BFO2 CLIF: [102-001]

Axiom
annotated source: zero-dimensional temporal region
annotated property: elucidation
annotated target: A zero-dimensional temporal region is a temporal region that is without extent. (axiom label in BFO2 Reference: [102-001])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/102-001

Axiom
annotated source: zero-dimensional temporal region
annotated property: has associated axiom(fol)
annotated target: (forall (x) (if (ZeroDimensionalTemporalRegion x) (TemporalRegion x))) // axiom label in BFO2 CLIF: [102-001]
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/102-001

history
type: Class
subclass of: process
BFO OWL specification label: history
BFO CLIF specification label: History
elucidation: 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])

Axiom
annotated source: history
annotated property: elucidation
annotated target: 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])
IAO_0010000: http://purl.obolibrary.org/obo/bfo/axiom/138-001

mouse DBA/2 inbred strain
type: Class
subclass of: Mus musculus
imported from: clo.owl
definition: MGI:2159768
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26254980
label: 小鼠DBA/2近交系
from pub med: true

induced pluripotent stem cell line cell
type: Class
subclass of: material entity
definition editor: YH, AD
definition source: https://en.wikipedia.org/wiki/Embryonic_stem_cell
definition source: https://en.wikipedia.org/wiki/Induced_pluripotent_stem_cell
definition source: https://www.ncbi.nlm.nih.gov/pubmed/16904174
imported from: clo.owl
definition: A stem cell line cell that is pluripotent and is generated from an adult somatic cell.
alternative term: iPS cell
alternative term: iPSC
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30233290
from pub med: true

clinical measurement
type: Class
subclass of: measurement datum
subclass of: Restriction
  on property: isDiagnosisFor
  some values from: epilepsy
imported from: cmo.owl
def: 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.
has_related_synonym: Clinical Evaluation
has_related_synonym: Laboratory test
from ESSO: true

cardiovascular measurement
type: Class
subclass of: clinical measurement
imported from: cmo.owl
def: Any value resulting from the quantification of a morphological or physiological parameter pertaining to the heart and/or blood vessels.

heart rate
type: Class
subclass of: heart measurement
imported from: cmo.owl
def: The number of contractions of the cardiac ventricles per unit of time.
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/12181003
from ESSO: true
from pub med: true

body morphological measurement
type: Class
subclass of: clinical measurement
imported from: cmo.owl
def: Measurement of the structure or forms of the entire body or parts of the body of an organism.
has related synonym: anthropometric measurement
has related synonym: morphometry

blood chemistry measurement
type: Class
subclass of: blood measurement
imported from: cmo.owl
def: A quantification of a parameter of the chemical composition of blood.
has related synonym: blood molecular composition measurement
from ESSO: true

white blood cell count
type: Class
subclass of: white blood cell measurement
imported from: cmo.owl
def: The number of white blood cells in a specified volume of blood.
has related synonym: leukocyte count
has related synonym: white corpuscle count
from article: true

blood protein measurement
type: Class
subclass of: blood chemistry measurement
imported from: cmo.owl
def: 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.

platelet count
type: Class
subclass of: platelet measurement
imported from: cmo.owl
def: The number of platelets (thrombocytes) in a specified volume of blood, usually expressed as platelets per cubic millimeter of whole blood.
from article: true

blood measurement
type: Class
subclass of: clinical measurement
imported from: cmo.owl
def: A measurement of the blood, it's contents, cells or other factors contained within the blood.
from article: true

blood cell measurement
type: Class
subclass of: blood measurement
subclass of: cell measurement
imported from: cmo.owl
def: 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.

hematocrit
type: Class
subclass of: red blood cell measurement
imported from: cmo.owl
def: Percentage of total blood volume that is made up of red blood cells.
has related synonym: Hct
has related synonym: packed cell volume
has related synonym: packed red blood cell volume
from article: true

mean corpuscular volume
type: Class
subclass of: red blood cell measurement
imported from: cmo.owl
def: 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.
has related synonym: MCV
from article: true

blood glucose level
type: Class
subclass of: blood chemistry measurement
imported from: cmo.owl
created by: mshimoyama
creation date: 2009-12-17T10:41:54Z
def: 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.
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29110774
from article: true

blood electrolyte measurement
type: Class
subclass of: blood chemistry measurement
imported from: cmo.owl
def: A quantification of one or more mineral salts found in the blood in the form of electrically charged ions.

blood enzyme activity level
type: Class
subclass of: blood enzyme measurement
imported from: cmo.owl
def: 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).
has related synonym: Not4Curation

respiratory system measurement
type: Class
subclass of: clinical measurement
imported from: cmo.owl
def: A measurement to assess the morphological or physiological state of the respiratory system or portion of the respiratory system.

ventilation measurement
type: Class
subclass of: respiratory system measurement
imported from: cmo.owl
created by: mshimoyama
creation date: 2011-09-21T11:16:38Z

head morphological measurement
type: Class
subclass of: body morphological measurement
imported from: cmo.owl
created by: mshimoyama
creation date: 2010-06-10T09:12:14Z
def: Morphological measurement of the top most or forward most division of an organism's body usually containing the brain and sense organs.

head circumference
type: Class
subclass of: head morphological measurement
imported from: cmo.owl
created by: mshimoyama
creation date: 2010-06-10T09:12:29Z
def: Total distance around the head of an organism.
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/2384077
from ESSO: true
from pub med: true

cell measurement
type: Class
subclass of: clinical measurement
imported from: cmo.owl
created by: mshimoyama
creation date: 2010-06-17T10:30:36Z
def: 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.

waist circumference
type: Class
subclass of: abdominal morphological measurement
imported from: cmo.owl
created by: mshimoyama
creation date: 2010-06-17T11:28:45Z
def: Distance completely around the body in the area between the thorax and hips. In humans, this is commonly at the umbilicus.
has related synonym: waist girth
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/25179745
from ESSO: true
from pub med: true

respiration rate
type: Class
subclass of: ventilation measurement
imported from: cmo.owl
created by: mshimoyama
creation date: 2011-09-21T11:30:32Z
def: The number of breaths taken by an organism per unit of time.
has related synonym: breathing frequency
has related synonym: pulmonary ventilation rate
has related synonym: respiratory rate
from ESSO: true

pulse
type: Class
subclass of: cardiovascular measurement
imported from: cmo.owl
created by: mshimoyama
creation date: 2010-08-04T10:37:40Z
def: The count of the rhythmic contractions and expansions of an artery due to the surge of blood from the beat of the heart.
from ESSO: true

abdominal morphological measurement
type: Class
subclass of: body morphological measurement
imported from: cmo.owl
created by: mshimoyama
creation date: 2010-08-04T01:50:13Z

blood potassium level
type: Class
subclass of: blood electrolyte measurement
imported from: cmo.owl
created by: mshimoyama
creation date: 2011-01-04T02:53:16Z
def: The amount of potassium ions in a specified volume of blood.
from article: true

blood calcium level
type: Class
subclass of: blood electrolyte measurement
imported from: cmo.owl
created by: mshimoyama
creation date: 2011-01-04T03:13:20Z
def: The amount of calcium ions in a specified volume of blood.
from article: true

hemoglobin measurement
type: Class
subclass of: blood cell measurement
imported from: cmo.owl
created by: mshimoyama
creation date: 2011-01-05T09:20:32Z
def: A measure of the oxygen carrying pigment of erythrocytes.
has exact synonym: haemoglobin measurement
from article: true

heart measurement
type: Class
subclass of: cardiovascular measurement
imported from: cmo.owl
created by: JSmith
creation date: 2012-02-15T05:06:19Z
comment: This is not the same term as the original "heart measurement". That term is now "heart morphological measurement".

platelet measurement
type: Class
subclass of: blood cell measurement
imported from: cmo.owl
created by: JSmith
creation date: 2012-07-12T01:22:42Z
def: 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.
from article: true

nervous system measurement
type: Class
subclass of: clinical measurement
imported from: cmo.owl
created by: JSmith
creation date: 2013-01-07T13:38:48Z
def: 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.

cerebrospinal fluid measurement
type: Class
subclass of: central nervous system measurement
imported from: cmo.owl
created by: JSmith
creation date: 2013-01-07T16:14:04Z
def: Any measurement of the fluid contained within the ventricles of the brain, the subarachnoid space, and the central canal of the spinal cord.
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26575850
from pub med: true

cerebrospinal fluid chemistry measurement
type: Class
subclass of: cerebrospinal fluid measurement
imported from: cmo.owl
created by: JSmith
creation date: 2013-01-07T16:22:14Z
def: 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.
has related synonym: Not4Curation
from article: true

cerebrospinal fluid electrolyte measurement
type: Class
subclass of: cerebrospinal fluid chemistry measurement
imported from: cmo.owl
created by: JSmith
creation date: 2013-01-07T16:25:29Z
def: A quantification of one or more mineral salts found in the cerebrospinal fluid in the form of electrically charged ions.
from article: true

cerebrospinal fluid chloride level
type: Class
subclass of: cerebrospinal fluid electrolyte measurement
imported from: cmo.owl
created by: JSmith
creation date: 2013-01-07T16:39:25Z
def: Measurement of the amount of choride, the negatively charged ion of chlorine, found in a specified volume of cerebrospinal fluid.
from article: true

cerebrospinal fluid sodium level
type: Class
subclass of: cerebrospinal fluid electrolyte measurement
imported from: cmo.owl
created by: JSmith
creation date: 2013-01-07T16:42:05Z
def: The amount of cationic sodium in a specified volume of cerebrospinal fluid.
from article: true

blood lactate level
type: Class
subclass of: blood chemistry measurement
imported from: cmo.owl
created by: JSmith
creation date: 2013-01-09T13:44:03Z
def: 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.
xref: CHEBI_24996
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29110774
from pub med: true

red blood cell measurement
type: Class
subclass of: blood cell measurement
imported from: cmo.owl
created by: JSmith
creation date: 2013-01-10T17:31:25Z
def: 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.
has related synonym: erythrocyte measurement

blood cytokine measurement
type: Class
subclass of: blood protein measurement
imported from: cmo.owl
created by: JSmith
creation date: 2013-11-26T11:05:41Z
def: 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.
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28288363
from pub med: true

central nervous system measurement
type: Class
subclass of: nervous system measurement
imported from: cmo.owl
created by: JSmith
creation date: 2013-12-02T13:23:47Z
def: Any quantification of a morphological or physiological parameter of the central nervous system, i.e., the brain and/or spinal cord.
has related synonym: CNS measurement

blood creatine kinase activity level
type: Class
subclass of: blood enzyme activity level
imported from: cmo.owl
created by: JSmith
creation date: 2014-03-11T14:12:54Z
def: 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.
has exact synonym: blood creatine phosphokinase activity level
has related synonym: blood CK activity level
has related synonym: blood CPK activity level
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28288363
from pub med: true

white blood cell measurement
type: Class
subclass of: blood cell measurement
imported from: cmo.owl
created by: JSmith
creation date: 2014-04-24T12:47:44Z
def: 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.
has exact synonym: leukocyte measurement
from article: true

blood enzyme measurement
type: Class
subclass of: blood protein measurement
imported from: cmo.owl
created by: JSmith
creation date: 2014-06-24T15:58:42Z
def: 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.
has related synonym: Not4Curation

disease of metabolism
type: Class
subclass of: disease
definition: A disease that involving errors in metabolic processes of building or degradation of molecules.
imported from: doid.owl
database_cross_reference: ICD10CM:E88.9
database_cross_reference: ICD9CM:277.9
database_cross_reference: MESH:D008659
database_cross_reference: NCI:C3235
database_cross_reference: SNOMEDCT_US_2018_03_01:30390004
database_cross_reference: SNOMEDCT_US_2018_03_01:75934005
database_cross_reference: UMLS_CUI:C0025517
alternative_term: Metabolic Disorder
alternative_term: metabolic disease
has_obo_namespace: disease_ontology
id: DOID:0014667
in subset: DO AGR slim
in subset: DO GXD slim
in subset: NCIthesaurus
from article: true

carbohydrate metabolism disease
type: Class
subclass of: acquired metabolic disease
definition: An acquired metabolic disease that is characterized by abnormal carbohydrate metabolism.
imported from: doid.owl
has_obo_namespace: disease_ontology
id: DOID:0050013
in subset: DO FlyBase slim

disease by infectious agent
type: Class
subclass of: disease
subclass of: Restriction
  on property: isRiskFactorFor
  some values from: epilepsy
definition: 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.
imported from: doid.owl
IEDB alternative term: infectious disease
has_alternative_id: DOID:10115
has_alternative_id: DOID:11078
has_alternative_id: DOID:1304
has_alternative_id: DOID:1321
has_alternative_id: DOID:2040
has_alternative_id: DOID:2288
has_alternative_id: DOID:3099
has_alternative_id: DOID:4120
has_alternative_id: DOID:4620
has_alternative_id: DOID:5256
has_alternative_id: DOID:945
has_alternative_id: DOID:95
has_alternative_id: DOID:9532
has_alternative_id: DOID:9696
database_cross_reference: ICD9CM:079.0
database_cross_reference: UMLS_CUI:C0001485
alternative_term: infectious disease
has_obo_namespace: disease_ontology
id: DOID:0050117
in subset: DO GXD slim
in subset: DO MGI slim
in subset: NCIthesaurus
comment: DO:wk

sensory system disease
type: Class
subclass of: nervous system disease
definition: 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).
imported from: doid.owl
has_obo_namespace: disease_ontology
id: DOID:0050155
in subset: DO AGR slim
in subset: DO FlyBase slim
in subset: DO GXD slim

lower respiratory tract disease
type: Class
subclass of: respiratory system disease
definition: A respiratory system disease which involves the lower respiratory tract.
imported from: doid.owl
database_cross_reference: ICD9CM:478.1
database_cross_reference: ICD9CM:478.19
database_cross_reference: UMLS_CUI:C0029581
has_obo_namespace: disease_ontology
id: DOID:0050161

monogenic disease
type: Class
subclass of: genetic disease
definition: A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
imported from: doid.owl
has_obo_namespace: disease_ontology
id: DOID:0050177
in subset: DO AGR slim
in subset: DO GXD slim

primary bacterial infectious disease
type: Class
subclass of: bacterial infectious disease
definition: 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.
imported from: doid.owl
has_obo_namespace: disease_ontology
id: DOID:0050338
in subset: DO FlyBase slim

restless legs syndrome
type: Class
subclass of: central nervous system disease
definition: A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them.
imported from: doid.owl
database_cross_reference: EFO:0004270
database_cross_reference: GARD:11926
database_cross_reference: ICD10CM:G25.81
database_cross_reference: ICD9CM:333.94
database_cross_reference: MESH:D012148
database_cross_reference: NCI:C84501
database_cross_reference: OMIM:PS102300
database_cross_reference: SNOMEDCT_US_2018_03_01:32914008
database_cross_reference: UMLS_CUI:C0035258
alternative_term: WED
alternative_term: Willis-Ekbom disease
alternative_term: Wittmaack-Ekbom syndrome
has_obo_namespace: disease_ontology
id: DOID:0050425
in subset: NCIthesaurus
comment: Xref MGI.
from article: true

Brugada syndrome
type: Class
subclass of: monogenic disease
subclass of: heart conduction disease
definition: A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/23538271
database_cross_reference: ICD10CM:I49.8
database_cross_reference: MESH:D053840
database_cross_reference: OMIM:PS601144
database_cross_reference: ORDO:130
database_cross_reference: UMLS_CUI:C1142166
database_cross_reference: UMLS_CUI:C1721096
alternative_term: Bangungut
alternative_term: Brugada type idiopathic ventricular fibrillation
alternative_term: Dream disease
alternative_term: Pokkuri death syndrome
alternative_term: SUNDS
alternative_term: sudden unexplained nocturnal death syndrome
has_obo_namespace: disease_ontology
id: DOID:0050451
comment: OMIM mapping confirmed by DO. [SN].
from pub med: true

lissencephaly
type: Class
subclass of: Malformations of Cortical Development
definition: 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.
imported from: doid.owl
database_cross_reference: GARD:12291
database_cross_reference: ICD10CM:Q04.3
database_cross_reference: ICD10CM:Q04.8
database_cross_reference: MESH:D054082
database_cross_reference: NCI:C103921
database_cross_reference: OMIM:300067
database_cross_reference: OMIM:300215
database_cross_reference: OMIM:607432
database_cross_reference: OMIM:611603
database_cross_reference: OMIM:614019
database_cross_reference: OMIM:615191
database_cross_reference: ORDO:102009
database_cross_reference: SNOMEDCT_US_2018_03_01:23024003
database_cross_reference: UMLS_CUI:C0266463
database_cross_reference: UMLS_CUI:C0266483
has definition: 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).
has_obo_namespace: disease_ontology
id: DOID:0050453
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
from ILAE: true

Axiom
annotated source: lissencephaly
annotated property: hasDefinition
annotated target: 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).

Wolf-Hirschhorn syndrome
type: Class
subclass of: chromosomal anomaly
definition: 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.
imported from: doid.owl
has_alternative_id: DOID:6684
database_cross_reference: GARD:7896
database_cross_reference: ICD10CM:Q93.3
database_cross_reference: MESH:D054877
database_cross_reference: NCI:C35528
database_cross_reference: OMIM:194190
database_cross_reference: ORDO:280
database_cross_reference: SNOMEDCT_US_2018_03_01:17122004
database_cross_reference: UMLS_CUI:C0796117
database_cross_reference: UMLS_CUI:C1956097
has definition: 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.
alternative_term: 4p deletion syndrome
alternative_term: PITT SYNDROME
alternative_term: Pitt-Rogers-Danks Syndrome
alternative_term: Wolf-Hirschhorn syndrome (del 4p)
alternative_term: chromosome 4p16.3 deletion syndrome
has_obo_namespace: disease_ontology
id: DOID:0050460
in subset: DO FlyBase slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].
from ESSO: true
from ILAE: true

Axiom
annotated source: Wolf-Hirschhorn syndrome
annotated property: hasDefinition
annotated target: 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.

Lennox-Gastaut syndrome
type: Class
subclass of: childhood-onset epilepsy syndrome
definition: A childhood electroclinical syndrome that is characterized by frequent seizures and intellectual disability that present in early childhood.
imported from: doid.owl
database_cross_reference: GARD:9912
database_cross_reference: OMIM:606369
database_cross_reference: ORDO:2382
has definition: 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.
alternative_term: Lennox syndrome
has_obo_namespace: disease_ontology
id: DOID:0050561
from ILAE: true

Axiom
annotated source: Lennox-Gastaut syndrome
annotated property: hasDefinition
annotated target: 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.

West syndrome
type: Class
subclass of: neonatal/infantile epilepsy syndrome
definition: An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability.
imported from: doid.owl
database_cross_reference: GARD:7887
database_cross_reference: MESH:D013036
database_cross_reference: NCI:C84788
database_cross_reference: ORDO:3451
has definition: 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.
has_obo_namespace: disease_ontology
has_related_synonym: Infantile spasms syndrome
id: DOID:0050562
in subset: NCIthesaurus
from EPILONT: true
from ESSO: true
from ILAE: true

Axiom
annotated source: West syndrome
annotated property: hasDefinition
annotated target: 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.

inflammatory bowel disease
type: Class
subclass of: intestinal disease
definition: An intestinal disease characterized by inflammation located_in all parts of digestive tract.
imported from: doid.owl
database_cross_reference: EFO:0003767
database_cross_reference: KEGG:05321
database_cross_reference: MESH:D015212
database_cross_reference: NCI:C3138
database_cross_reference: OMIM:PS266600
database_cross_reference: SNOMEDCT_US_2018_03_01:24526004
database_cross_reference: UMLS_CUI:C0021390
has_obo_namespace: disease_ontology
id: DOID:0050589
in subset: DO FlyBase slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

advanced sleep phase syndrome
type: Class
subclass of: autosomal dominant disease
definition: A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning.
imported from: doid.owl
database_cross_reference: OMIM:PS604348
database_cross_reference: ORDO:164736
alternative_term: familial advanced sleep-phase syndrome
has_obo_namespace: disease_ontology
id: DOID:0050628
in subset: DO rare slim
comment: Xref MGI.

alternating hemiplegia of childhood
type: Class
subclass of: rare paroxysmal movement disorder
definition: A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body.
imported from: doid.owl
database_cross_reference: GARD:11
database_cross_reference: ICD10CM:G98
database_cross_reference: MESH:C536589
database_cross_reference: OMIM:104290
database_cross_reference: OMIM:614820
database_cross_reference: ORDO:2131
has definition: 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.
alternative_term: AHC
alternative_term: Alternating hemiplegia
has_obo_namespace: disease_ontology
id: DOID:0050635
in subset: DO rare slim
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
from ILAE: true

Axiom
annotated source: alternating hemiplegia of childhood
annotated property: hasDefinition
annotated target: 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.

cardiomyopathy
type: Class
subclass of: heart disease
definition: A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.
imported from: doid.owl
created_by: lschriml
creation_date: 2012-01-03T02:54:11Z
database_cross_reference: ICD10CM:I42
database_cross_reference: ICD10CM:I42.9
database_cross_reference: ICD10CM:I51.5
database_cross_reference: ICD9CM:425
database_cross_reference: ICD9CM:425.9
database_cross_reference: MESH:D009202
database_cross_reference: NCI:C34830
database_cross_reference: NCI:C53654
database_cross_reference: SNOMEDCT_US_2018_03_01:20072003
database_cross_reference: SNOMEDCT_US_2018_03_01:57809008
database_cross_reference: SNOMEDCT_US_2018_03_01:85898001
database_cross_reference: SNOMEDCT_US_2018_03_01:89461002
database_cross_reference: SNOMEDCT_US_2018_03_01:89600009
database_cross_reference: UMLS_CUI:C0033141
database_cross_reference: UMLS_CUI:C0036529
database_cross_reference: UMLS_CUI:C0878544
alternative_term: Cardiomyopathies
has_obo_namespace: disease_ontology
id: DOID:0050700
in subset: DO FlyBase slim
in subset: NCIthesaurus
comment: MESH:D009202 added from NeuroDevNet [WAK].
from article: true

early infantile epileptic encephalopathy
type: Class
subclass of: neonatal/infantile epilepsy syndrome
definition: A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures.
imported from: doid.owl
created_by: lschriml
creation_date: 2012-05-10T10:02:58Z
has_alternative_id: DOID:2481
database_cross_reference: GARD:9255
database_cross_reference: OMIM:PS308350
database_cross_reference: ORDO:1934
has definition: 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.
alternative_term: Early Infantile Epileptic Encephalopathy with Burst-Suppression
alternative_term: Ohtahara syndrome
has_obo_namespace: disease_ontology
id: DOID:0050709
from EPILONT: true
from ESSO: true
from ILAE: true

Axiom
annotated source: early infantile epileptic encephalopathy
annotated property: hasDefinition
annotated target: 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.

autosomal dominant disease
type: Class
subclass of: autosomal genetic disease
definition: 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.
imported from: doid.owl
created_by: lschriml
creation_date: 2012-07-24T12:51:47Z
has_obo_namespace: disease_ontology
id: DOID:0050736

autosomal genetic disease
type: Class
subclass of: monogenic disease
definition: A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.
imported from: doid.owl
created_by: lschriml
creation_date: 2012-07-24T04:45:53Z
has_obo_namespace: disease_ontology
id: DOID:0050739
in subset: DO MGI slim

alcohol dependence
type: Class
subclass of: substance dependence
definition: 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.
imported from: doid.owl
created_by: lschriml
creation_date: 2012-09-05T11:48:42Z
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/14594442
database_cross_reference: EFO:0003829
database_cross_reference: KEGG:05034
database_cross_reference: OMIM:103780
database_cross_reference: SNOMEDCT_US_2018_03_01:66590003
alternative_term: alcoholism
has_obo_namespace: disease_ontology
id: DOID:0050741
in subset: DO FlyBase slim
in subset: NCIthesaurus
from pub med: true

nicotine dependence
type: Class
subclass of: substance dependence
definition: A substance dependence that is characterized by a physical dependence on nicotine.
imported from: doid.owl
created_by: lschriml
creation_date: 2012-09-05T11:48:42Z
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/24441294
database_cross_reference: EFO:0003768
database_cross_reference: ICD10CM:F17
database_cross_reference: ICD10CM:F17.2
database_cross_reference: ICD10CM:F17.20
database_cross_reference: MESH:D014029
database_cross_reference: NCI:C54203
database_cross_reference: SNOMEDCT_US_2018_03_01:56294008
database_cross_reference: UMLS_CUI:C0028043
alternative_term: Nicotine use
alternative_term: tobacco use disorder
has_obo_namespace: disease_ontology
id: DOID:0050742
in subset: NCIthesaurus
from pub med: true

artery disease
type: Class
subclass of: vascular disease
definition: A vascular disease that is located_in an artery.
imported from: doid.owl
created_by: lschriml
creation_date: 2014-02-12T03:08:35Z
has_obo_namespace: disease_ontology
id: DOID:0050828

sleep apnea
type: Class
subclass of: sleeping behavior phenotype
definition: A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep.
imported from: doid.owl
created_by: lschriml
creation_date: 2014-03-20T03:57:22Z
database_cross_reference: ICD10CM:G47.3
database_cross_reference: ICD10CM:G47.30
database_cross_reference: ICD9CM:780.57
database_cross_reference: MESH:D012891
database_cross_reference: NCI:C26884
database_cross_reference: SNOMEDCT_US_2018_03_01:73430006
database_cross_reference: UMLS_CUI:C0037315
has_obo_namespace: disease_ontology
id: DOID:0050847
in subset: NCIthesaurus

obstructive sleep apnea
type: Class
subclass of: sleep apnea
definition: 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.
imported from: doid.owl
created_by: lschriml
creation_date: 2014-03-20T03:57:22Z
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK1169/#adnfle.Clinical_Characteristics
database_cross_reference: ICD10CM:G47.33
database_cross_reference: ICD9CM:327.23
database_cross_reference: MESH:D020181
database_cross_reference: NCI:C116337
database_cross_reference: NCI:C27168
database_cross_reference: OMIM:107650
database_cross_reference: SNOMEDCT_US_2018_03_01:78275009
database_cross_reference: UMLS_CUI:C0520679
alternative_term: obstructive sleep apnea syndrome
has_obo_namespace: disease_ontology
id: DOID:0050848
in subset: NCIthesaurus
comment: Xref MGI.
from NCBI book: true

hereditary ataxia
type: Class
subclass of: neurodegenerative disease
definition: A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements.
imported from: doid.owl
created_by: lschriml
creation_date: 2015-10-05T14:38:17Z
database_cross_reference: GARD:6614
has_obo_namespace: disease_ontology
id: DOID:0050951

episodic ataxia type 1
type: Class
subclass of: episodic ataxia
definition: 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.
imported from: doid.owl
created_by: lschriml
creation_date: 2015-10-06T16:26:26Z
database_cross_reference: OMIM:160120
has definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050989
from ILAE: true

Axiom
annotated source: episodic ataxia type 1
annotated property: hasDefinition
annotated target: 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.

episodic ataxia type 2
type: Class
subclass of: episodic ataxia
definition: 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.
imported from: doid.owl
created_by: lschriml
creation_date: 2015-10-06T16:26:26Z
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/27025991
database_cross_reference: OMIM:108500
has definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0050990
from ILAE: true
from pub med: true

Axiom
annotated source: episodic ataxia type 2
annotated property: hasDefinition
annotated target: 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.

autoimmune disease of central nervous system
type: Class
subclass of: autoimmune disease of the nervous system
definition: An autoimmune hypersensitivity disease located_in the central nervous system.
imported from: doid.owl
has_obo_namespace: disease_ontology
id: DOID:0060004

autoimmune disease of gastrointestinal tract
type: Class
subclass of: autoimmune hypersensitivity disease
definition: 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.
imported from: doid.owl
has_obo_namespace: disease_ontology
id: DOID:0060031

autoimmune disease of musculoskeletal system
type: Class
subclass of: musculoskeletal system disease
subclass of: autoimmune hypersensitivity disease
definition: 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.
imported from: doid.owl
has_obo_namespace: disease_ontology
id: DOID:0060032

autoimmune disease of peripheral nervous system
type: Class
subclass of: autoimmune disease of the nervous system
subclass of: peripheral nervous system disease
definition: 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.
imported from: doid.owl
has_obo_namespace: disease_ontology
id: DOID:0060033

intrinsic cardiomyopathy
type: Class
subclass of: cardiomyopathy
definition: A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/31327513
has_obo_namespace: disease_ontology
id: DOID:0060036
from pub med: true

developmental disorder of mental health
type: Class
subclass of: disease of mental health
definition: 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.
imported from: doid.owl
has_obo_namespace: disease_ontology
id: DOID:0060037

specific developmental disorder
type: Class
subclass of: developmental disorder of mental health
definition: A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.
imported from: doid.owl
has_obo_namespace: disease_ontology
id: DOID:0060038

autoimmune disease of skin and connective tissue
type: Class
subclass of: rheumatic disease
subclass of: cellulitis
definition: 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.
imported from: doid.owl
has_obo_namespace: disease_ontology
id: DOID:0060039

pervasive developmental disorder
type: Class
subclass of: developmental disorder of mental health
definition: 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.
imported from: doid.owl
has_alternative_id: DOID:1208
database_cross_reference: ICD9CM:299.80
database_cross_reference: UMLS_CUI:C0154451
alternative_term: pervasive development disorder
has_obo_namespace: disease_ontology
id: DOID:0060040

autism spectrum disorder
type: Class
subclass of: pervasive developmental disorder
definition: 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.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30691036
database_cross_reference: GARD:10248
database_cross_reference: MESH:D000067877
has_obo_namespace: disease_ontology
id: DOID:0060041
in subset: DO FlyBase slim
from ESSO: true
from pub med: true

sexual disorder
type: Class
subclass of: disease of mental health
definition: A disease of mental health that involves the impairment in normal sexual functioning.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28775613
has_obo_namespace: disease_ontology
id: DOID:0060043
from pub med: true

writing disorder
type: Class
subclass of: learning disability
definition: A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition.
imported from: doid.owl
has_obo_namespace: disease_ontology
id: DOID:0060047

hypersensitivity reaction disease
type: Class
subclass of: immune system disease
definition: An immune system disease that has_material_basis_in abnormal immune responses.
imported from: doid.owl
has_obo_namespace: disease_ontology
id: DOID:0060056

benign neoplasm
type: Class
subclass of: disease of cellular proliferation
definition: A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize.
imported from: doid.owl
created_by: lschriml
creation_date: 2011-05-11T12:18:41Z
has_obo_namespace: disease_ontology
id: DOID:0060072
in subset: DO AGR slim
in subset: DO GXD slim
in subset: DO MGI slim

cell type benign neoplasm
type: Class
subclass of: benign neoplasm
definition: A benign neoplasm that is classified by the type of cell or tissue from which it is derived.
imported from: doid.owl
created_by: lschriml
creation_date: 2011-07-14T11:59:48Z
has_obo_namespace: disease_ontology
id: DOID:0060084

organ system benign neoplasm
type: Class
subclass of: benign neoplasm
definition: A benign neoplasm that is classified by the organ system from which it is arising from.
imported from: doid.owl
created_by: lschriml
creation_date: 2011-07-14T12:12:23Z
has_obo_namespace: disease_ontology
id: DOID:0060085
in subset: DO FlyBase slim

central nervous system benign neoplasm
type: Class
subclass of: nervous system benign neoplasm
subclass of: central nervous system disease
definition: A central nervous system benign neoplasm that is characterized by lack of malignancy.
imported from: doid.owl
created_by: lschriml
creation_date: 2011-07-14T01:45:15Z
has_obo_namespace: disease_ontology
id: DOID:0060090

cardiovascular organ benign neoplasm
type: Class
subclass of: cardiovascular system disease
definition: An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system.
imported from: doid.owl
created_by: lschriml
creation_date: 2011-07-14T01:45:15Z
has_obo_namespace: disease_ontology
id: DOID:0060091

brain glioma
type: Class
subclass of: glioma
definition: A brain cancer that has_material_basis_in glial cells.
imported from: doid.owl
created_by: lschriml
creation_date: 2011-07-22T12:42:50Z
alternative_term: lower grade glioma
has_obo_namespace: disease_ontology
has_related_synonym: Low Grade Glioma
id: DOID:0060108
in subset: DO FlyBase slim
in subset: DO cancer slim

nervous system benign neoplasm
type: Class
subclass of: organ system benign neoplasm
definition: An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system.
imported from: doid.owl
created_by: lschriml
creation_date: 2011-07-25T12:47:43Z
has_obo_namespace: disease_ontology
id: DOID:0060115

visual agnosia
type: Class
subclass of: agnosia
definition: An agnosia that is a loss of the ability to visually recognize objects.
imported from: doid.owl
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29237192
database_cross_reference: MESH:C531604
database_cross_reference: UMLS_CUI:C2930796
has_obo_namespace: disease_ontology
id: DOID:0060155
from pub med: true

acquired metabolic disease
type: Class
subclass of: disease of metabolism
definition: 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.
imported from: doid.owl
created_by: lschriml
creation_date: 2011-08-24T02:53:03Z
has_obo_namespace: disease_ontology
id: DOID:0060158
in subset: DO MGI slim

benign familial infantile epilepsy
type: Class
subclass of: benign partial infantile seizures
subclass of: idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes
definition: An infancy electroclinical syndrome that is characterized by convulsions, with onset at age 3 to 12 months.
imported from: doid.owl
created_by: lschriml
creation_date: 2011-10-28T02:55:02Z
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/12503648
database_cross_reference: GARD:1518
database_cross_reference: GARD:857
database_cross_reference: OMIM:601764
database_cross_reference: OMIM:605751
database_cross_reference: OMIM:607745
database_cross_reference: OMIM:612627
database_cross_reference: ORDO:306
alternative_term: BFIC
alternative_term: BFIE
alternative_term: Benign familial infantile seizures
alternative_term: benign familial infantile convulsion
alternative_term: benign familial infantile seizures
has_obo_namespace: disease_ontology
id: DOID:0060169
in subset: DO rare slim
comment: Xref MGI.
from pub med: true

juvenile absence epilepsy
type: Class
subclass of: idiopathic generalized epilepsy
subclass of: adolescent/adult-onset epilepsy syndrome
definition: An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures.
imported from: doid.owl
created_by: lschriml
creation_date: 2011-11-08T10:42:18Z
has definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0060172
comment: JA:Epilepsy Genetics Kiel
from EPILONT: true
from ILAE: true

Axiom
annotated source: juvenile absence epilepsy
annotated property: hasDefinition
annotated target: 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.

familial hemiplegic migraine
type: Class
subclass of: migraine associated disorder
definition: 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.
imported from: doid.owl
created_by: lschriml
creation_date: 2011-11-08T02:54:32Z
database_cross_reference: GARD:10975
database_cross_reference: ICD10CM:G43.8
database_cross_reference: ICD9CM:346.8
database_cross_reference: ORDO:569
database_cross_reference: UMLS_CUI:C0477373
has definition: 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.
has_obo_namespace: disease_ontology
id: DOID:0060178
in subset: DO FlyBase slim
in subset: DO rare slim
comment: Xref MGI.
from ILAE: true

Axiom
annotated source: familial hemiplegic migraine
annotated property: hasDefinition
annotated target: 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.

specific language impairment
type: Class
subclass of: language disorder
definition: A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors.
imported from: doid.owl
created_by: emitraka
creation_date: 2015-01-28T16:29:51Z
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/15797356
database_cross_reference: OMIM:606711
database_cross_reference: OMIM:606712
database_cross_reference: OMIM:607134
database_cross_reference: OMIM:612514
database_cross_reference: OMIM:615432
alternative_term: language impairment
has_obo_namespace: disease_ontology
id: DOID:0060244
comment: NT MGI.
from pub med: true

photosensitive epilepsy
type: Class
subclass of: epilepsy
definition: An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights.
imported from: doid.owl
created_by: emitraka
creation_date: 2015-02-04T16:15:55Z
database_cross_reference: GARD:5648
database_cross_reference: ICD10CM:G40.8
database_cross_reference: OMIM:132100
database_cross_reference: OMIM:609572
database_cross_reference: OMIM:609573
database_cross_reference: ORDO:166409
alternative_term: photogenic epilepsy
alternative_term: photoparoxysmal response
has_obo_namespace: disease_ontology
id: DOID:0060281
in subset: DO rare slim
comment: NT MGI.
from article: true

cardiac arrest
type: Class
subclass of: congestive heart failure
definition: 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.
imported from: doid.owl
created_by: emitraka
creation_date: 2015-02-25T15:12:30Z
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/22916156
database_cross_reference: ICD10CM:I46
database_cross_reference: ICD9CM:427.5
database_cross_reference: MESH:D006323
database_cross_reference: NCI:C50479
database_cross_reference: NCI:C50483
database_cross_reference: SNOMEDCT_US_2018_03_01:30298009
database_cross_reference: UMLS_CUI:C0018790
database_cross_reference: UMLS_CUI:C0600228
alternative_term: cardiopulmonary arrest
alternative_term: circulatory arrest
has_obo_namespace: disease_ontology
has_related_synonym: Cardiac asystole
has_related_synonym: Sudden cardiac arrest
id: DOID:0060319
in subset: NCIthesaurus
from article: true
from pub med: true

myelomeningocele
type: Class
subclass of: spina bifida
subclass of: spinal cord disease
definition: A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes.
imported from: doid.owl
created_by: emitraka
creation_date: 2015-02-25T17:47:25Z
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/20430655
database_cross_reference: ICD10CM:Q05
database_cross_reference: MESH:D008591
database_cross_reference: NCI:C101201
database_cross_reference: NCI:C98874
database_cross_reference: SNOMEDCT_US_2018_03_01:7096005
database_cross_reference: SNOMEDCT_US_2018_03_01:82058009
database_cross_reference: UMLS_CUI:C0025312
database_cross_reference: UMLS_CUI:C0086664
database_cross_reference: UMLS_CUI:C0751316
has_obo_namespace: disease_ontology
id: DOID:0060326
in subset: NCIthesaurus
from pub med: true

chromosome 15q13.3 microdeletion syndrome
type: Class
subclass of: chromosomal anomaly
definition: 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.
imported from: doid.owl
created_by: elvira
creation_date: 2015-09-28T16:23:21Z
database_cross_reference: GARD:10296
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: MESH:C567439
database_cross_reference: OMIM:612001
database_cross_reference: ORDO:199318
has definition: 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.
alternative_term: 15q13.3 microdeletion syndrome
has_obo_namespace: disease_ontology
id: DOID:0060394
in subset: DO rare slim
from ILAE: true

Axiom
annotated source: chromosome 15q13.3 microdeletion syndrome
annotated property: hasDefinition
annotated target: 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.

chromosome 18q deletion syndrome
type: Class
subclass of: chromosomal anomaly
imported from: doid.owl
created_by: elvira
creation_date: 2015-09-28T17:05:53Z
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: MESH:C536580
database_cross_reference: OMIM:601808
database_cross_reference: ORDO:1600
has definition: 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.
alternative_term: 18q- syndrome
alternative_term: deletion 18q
alternative_term: monosomy 18q
has_obo_namespace: disease_ontology
id: DOID:0060407
in subset: DO rare slim
from ILAE: true

Axiom
annotated source: chromosome 18q deletion syndrome
annotated property: hasDefinition
annotated target: 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.

chromosome 1p36 deletion syndrome
type: Class
subclass of: chromosomal anomaly
imported from: doid.owl
created_by: elvira
creation_date: 2015-09-28T17:14:10Z
database_cross_reference: GARD:6082
database_cross_reference: MESH:C535362
database_cross_reference: NCI:C74983
database_cross_reference: OMIM:607872
database_cross_reference: ORDO:1606
database_cross_reference: UMLS_CUI:C1842870
has definition: 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.
alternative_term: 1p36 deletion syndrome
alternative_term: deletion 1p36
alternative_term: monosomy 1p36
has_obo_namespace: disease_ontology
has_related_synonym: subtelomeric 1p36 deletion
id: DOID:0060410
in subset: DO rare slim
in subset: NCIthesaurus
from ILAE: true

Axiom
annotated source: chromosome 1p36 deletion syndrome
annotated property: hasDefinition
annotated target: 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.

Miller-Dieker lissencephaly syndrome
type: Class
subclass of: chromosomal anomaly
definition: A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene.
imported from: doid.owl
created_by: elvira
creation_date: 2015-11-17T16:22:00Z
database_cross_reference: ICD10CM:Q93.88
database_cross_reference: MESH:D054221
database_cross_reference: NCI:C124852
database_cross_reference: OMIM:247200
database_cross_reference: ORDO:531
database_cross_reference: SNOMEDCT_US_2018_03_01:43849007
database_cross_reference: UMLS_CUI:C0265219
has definition: 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.
alternative_term: MDS
alternative_term: Miller dieker syndrome (del 17p)
alternative_term: Miller-Dieker syndrome
has_obo_namespace: disease_ontology
id: DOID:0060469
in subset: DO rare slim
in subset: NCIthesaurus
from ILAE: true

Axiom
annotated source: Miller-Dieker lissencephaly syndrome
annotated property: hasDefinition
annotated target: 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.

drug allergy
type: Class
subclass of: allergic hypersensitivity disease
definition: A hypersensitivity reaction type I disease triggered by a drug.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/1831121
has_obo_namespace: disease_ontology
has_related_synonym: Allergic rash
id: DOID:0060500
in subset: DO IEDB slim
from pub med: true

autosomal dominant nocturnal frontal lobe epilepsy
type: Class
subclass of: childhood-onset epilepsy syndrome
definition: 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.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK83677/
database_cross_reference: GARD:11918
database_cross_reference: OMIM:PS600513
database_cross_reference: ORDO:98784
has definition: 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.
alternative_term: ADNFLE
alternative_term: ENFL
has_obo_namespace: disease_ontology
id: DOID:0060681
in subset: DO rare slim
from ILAE: true

Axiom
annotated source: autosomal dominant nocturnal frontal lobe epilepsy
annotated property: hasDefinition
annotated target: 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.

bone disease
type: Class
subclass of: connective tissue disease
definition: A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function.
imported from: doid.owl
has_alternative_id: DOID:1290
database_cross_reference: ICD10CM:M89.9
database_cross_reference: MESH:D001847
database_cross_reference: SNOMEDCT_US_2018_03_01:76069003
database_cross_reference: UMLS_CUI:C0005940
has_obo_namespace: disease_ontology
has_related_synonym: skeletal disease
id: DOID:0080001

physical disorder
type: Class
subclass of: disease
definition: A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
imported from: doid.owl
has_obo_namespace: disease_ontology
id: DOID:0080015
in subset: DO AGR slim
in subset: DO GXD slim
in subset: DO MGI slim

spina bifida
type: Class
subclass of: neural tube defect
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/20430655
database_cross_reference: GARD:7673
database_cross_reference: MESH:D016135
has_obo_namespace: disease_ontology
id: DOID:0080016
from pub med: true

neural tube defect
type: Class
subclass of: physical disorder
imported from: doid.owl
created_by: lschriml
creation_date: 2015-10-19T14:41:42Z
database_cross_reference: GARD:4016
database_cross_reference: OMIM:301410
database_cross_reference: OMIM:601634
has_obo_namespace: disease_ontology
id: DOID:0080074

mitochondrial DNA depletion syndrome 4a
type: Class
subclass of: mitochondrial disease
definition: 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.
imported from: doid.owl
has_alternative_id: DOID:1442
database_cross_reference: GARD:5783
database_cross_reference: ICD10CM:G31.81
database_cross_reference: MESH:D002549
database_cross_reference: MTHICD9_2006:330.8
database_cross_reference: NCI:C35257
database_cross_reference: OMIM:203700
database_cross_reference: ORDO:726
database_cross_reference: SNOMEDCT_US_2018_03_01:20415001
database_cross_reference: UMLS_CUI:C0205710
has definition: Intractable seizures with status epilepticus and epilepsia partialis continua occur, with developmental regression and liver dysfunction. Caused by mutations in POLG.
alternative_term: Alper's syndrome
alternative_term: Alpers disease
alternative_term: Alpers progressive infantile poliodystrophy
alternative_term: Alpers syndrome
alternative_term: Alpers' disease or gray-matter degeneration
alternative_term: Alpers-Huttenlocher syndrome
alternative_term: progressive sclerosing poliodystrophy
has_obo_namespace: disease_ontology
id: DOID:0080122
in subset: DO rare slim
in subset: NCIthesaurus
from ILAE: true

Axiom
annotated source: mitochondrial DNA depletion syndrome 4a
annotated property: hasDefinition
annotated target: Intractable seizures with status epilepticus and epilepsia partialis continua occur, with developmental regression and liver dysfunction. Caused by mutations in POLG.

Dravet syndrome
type: Class
subclass of: neonatal/infantile epilepsy syndrome
definition: An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24.
imported from: doid.owl
has_alternative_id: DOID:0060171
database_cross_reference: GARD:10430
database_cross_reference: OMIM:607208
database_cross_reference: ORDO:33069
has definition: 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).
alternative_term: early infantile epileptic encephalopathy 6
has_obo_namespace: disease_ontology
id: DOID:0080422
in subset: DO FlyBase slim
from ILAE: true

Axiom
annotated source: Dravet syndrome
annotated property: hasDefinition
annotated target: 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).

delayed sleep phase syndrome
type: Class
subclass of: sleeping behavior phenotype
definition: A sleep disorder characterized by an extreme evening preference, sleep-onset insomnia, and difficulty in awakening at the desired time.
imported from: doid.owl
alternative_term: DSPD
has_obo_namespace: disease_ontology
id: DOID:0111141

subcortical band heterotopia
type: Class
subclass of: Malformations of Cortical Development
definition: 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.
imported from: doid.owl
database_cross_reference: MESH:D054221
database_cross_reference: NCI:C116933
database_cross_reference: OMIM:600348
database_cross_reference: ORDO:99796
database_cross_reference: UMLS_CUI:C1848201
has definition: 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.
alternative_term: HeCo
alternative_term: band heterotopia
alternative_term: double cortex syndrome
alternative_term: heterotopic cortex
alternative_term: subcortical laminar heterotopia
has_obo_namespace: disease_ontology
id: DOID:0111169
in subset: NCIthesaurus
from ILAE: true

Axiom
annotated source: subcortical band heterotopia
annotated property: hasDefinition
annotated target: 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.

paroxysmal extreme pain disorder
type: Class
subclass of: Miscellaneous
definition: 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.
imported from: doid.owl
database_cross_reference: GARD:12854
database_cross_reference: MESH:C563475
database_cross_reference: OMIM:167400
database_cross_reference: ORDO:46348
database_cross_reference: UMLS_CUI:C1833661
has definition: 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.
alternative_term: PEPD
alternative_term: PEXPD
alternative_term: familial rectal pain
alternative_term: submandibular, ocular and rectal pain with flushing
has_obo_namespace: disease_ontology
id: DOID:0111537
from ILAE: true

Axiom
annotated source: paroxysmal extreme pain disorder
annotated property: hasDefinition
annotated target: 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.

Sturge-Weber syndrome
type: Class
subclass of: vascular malformation
definition: 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.
imported from: doid.owl
database_cross_reference: GARD:7706
database_cross_reference: MESH:D013341
database_cross_reference: OMIM:185300
database_cross_reference: ORDO:3205
database_cross_reference: SNOMEDCT_US_2018_03_01:19886006
database_cross_reference: UMLS_CUI:C0038505
has definition: 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.
alternative_term: SWS
alternative_term: Sturge-Weber-Dimitri syndrome
alternative_term: Sturge-Weber-Krabbe angiomatosis
alternative_term: Sturge-Weber-Krabbe syndrome
alternative_term: encephalofacial angiomatosis
alternative_term: encephalotrigeminal angiomatosis
alternative_term: fourth phacomatosis
alternative_term: leptomeningeal angiomatosis
alternative_term: meningeal capillary angiomatosis
has_obo_namespace: disease_ontology
id: DOID:0111563
from ILAE: true

Axiom
annotated source: Sturge-Weber syndrome
annotated property: hasDefinition
annotated target: 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.

migraine with aura
type: Class
subclass of: migraine associated disorder
definition: A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon.
imported from: doid.owl
has_alternative_id: DOID:10025
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26198661
database_cross_reference: ICD10CM:G43.1
database_cross_reference: ICD10CM:G43.109
database_cross_reference: ICD9CM:346.0
database_cross_reference: MESH:D020325
database_cross_reference: NCI:C117005
database_cross_reference: OMIM:609179
database_cross_reference: OMIM:609670
database_cross_reference: SNOMEDCT_US_2018_03_01:4473006
database_cross_reference: UMLS_CUI:C0154723
has definition: 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.
alternative_term: Migraine with visual aura
alternative_term: classic migraine
has_obo_namespace: disease_ontology
id: DOID:10024
in subset: NCIthesaurus
comment: Xref MGI.
from ILAE: true
from pub med: true

Axiom
annotated source: migraine with aura
annotated property: hasDefinition
annotated target: 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.

cysticercosis
type: Class
subclass of: central nervous system disease
definition: 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.
imported from: doid.owl
has_alternative_id: DOID:10078
has_alternative_id: DOID:14424
database_cross_reference: GARD:8194
database_cross_reference: ICD10CM:B69
database_cross_reference: ICD10CM:B69.9
database_cross_reference: ICD9CM:123.1
database_cross_reference: MESH:D003551
database_cross_reference: MTHICD9_2006:123.0
database_cross_reference: NCI:C34520
database_cross_reference: SNOMEDCT_US_2018_03_01:59051007
database_cross_reference: UMLS_CUI:C0010678
has definition: 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.
alternative_term: Pork tapeworm infection
alternative_term: Tapeworm infection: intestinal taenia solum
alternative_term: Tapeworm infection: pork
alternative_term: intestinal taenia solium infection
alternative_term: neurocysticercosis
alternative_term: tenia solium infectious disease
has_obo_namespace: disease_ontology
id: DOID:10079
in subset: NCIthesaurus
from ESSO: true
from ILAE: true

Axiom
annotated source: cysticercosis
annotated property: hasDefinition
annotated target: 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.

sleeping sickness
type: Class
subclass of: trypanosomiasis
definition: 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.
imported from: doid.owl
database_cross_reference: CSP2005:2214-6161
database_cross_reference: ICD10CM:B56
database_cross_reference: ICD10CM:B56.9
database_cross_reference: ICD9CM:086.5
database_cross_reference: KEGG:05143
database_cross_reference: MESH:D014353
database_cross_reference: NCI:C84541
database_cross_reference: SNOMEDCT_US_2018_03_01:27031003
database_cross_reference: SNOMEDCT_US_2018_03_01:78940002
database_cross_reference: UMLS_CUI:C0041228
alternative_term: African sleeping sickness
alternative_term: African trypanosomiasis
has_obo_namespace: disease_ontology
id: DOID:10112
in subset: NCIthesaurus
in subset: zoonotic infectious disease

trypanosomiasis
type: Class
subclass of: disease by infectious agent
definition: A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans.
imported from: doid.owl
database_cross_reference: ICD10CM:B57.2
database_cross_reference: ICD9CM:086
database_cross_reference: ICD9CM:086.9
database_cross_reference: MESH:D014352
database_cross_reference: SNOMEDCT_US_2018_03_01:78940002
database_cross_reference: UMLS_CUI:C0041227
has_obo_namespace: disease_ontology
id: DOID:10113

heart conduction disease
type: Class
subclass of: heart disease
definition: A cardiovascular system disease that involves the heart's electrical conduction system.
imported from: doid.owl
database_cross_reference: ICD9CM:426.6
database_cross_reference: UMLS_CUI:C0029630
alternative_term: heart rhythm disease
has_obo_namespace: disease_ontology
id: DOID:10273

bacterial infectious disease
type: Class
subclass of: disease by infectious agent
definition: A disease by infectious agent that results_in infection, has_material_basis_in Bacteria.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK83677/
database_cross_reference: ICD10CM:A49
database_cross_reference: ICD10CM:A49.9
database_cross_reference: MESH:D001424
database_cross_reference: NCI:C2890
database_cross_reference: SNOMEDCT_US_2018_03_01:87628006
database_cross_reference: UMLS_CUI:C0004623
alternative_term: Bacterial Infections
has_obo_namespace: disease_ontology
id: DOID:104
in subset: DO AGR slim
in subset: DO FlyBase slim
in subset: NCIthesaurus
from NCBI book: true

intellectual disability
type: Class
subclass of: specific developmental disorder
definition: 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.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28671982
database_cross_reference: MESH:D008607
database_cross_reference: NCI:C84392
database_cross_reference: SNOMEDCT_US_2018_03_01:1855002
database_cross_reference: SNOMEDCT_US_2018_03_01:91138005
database_cross_reference: UMLS_CUI:C0025362
alternative_term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
alternative_term: Mental Retardation
has_obo_namespace: disease_ontology
has_related_synonym: mental retardation
id: DOID:1059
in subset: DO FlyBase slim
in subset: NCIthesaurus
comment: OMIM mapping submitted by NeuroDevNet. [LS].
from article: true
from pub med: true

celiac disease
type: Class
subclass of: autoimmune disease of gastrointestinal tract
definition: 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.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30562654
database_cross_reference: CSP2005:1248-3893
database_cross_reference: EFO:0001060
database_cross_reference: GARD:11998
database_cross_reference: ICD10CM:K90.0
database_cross_reference: ICD9CM:579.0
database_cross_reference: MESH:D002446
database_cross_reference: MTHICD9_2006:579.0
database_cross_reference: NCI:C26714
database_cross_reference: OMIM:607202
database_cross_reference: OMIM:609754
database_cross_reference: OMIM:611598
database_cross_reference: OMIM:612005
database_cross_reference: OMIM:612006
database_cross_reference: OMIM:612007
database_cross_reference: OMIM:612008
database_cross_reference: OMIM:612009
database_cross_reference: OMIM:612011
database_cross_reference: ORDO:555
database_cross_reference: SNOMEDCT_US_2018_03_01:23829007
database_cross_reference: UMLS_CUI:C0007570
alternative_term: celiac sprue
alternative_term: coeliac disease
alternative_term: idiopathic steatorrhea
has_obo_namespace: disease_ontology
id: DOID:10608
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
from ESSO: true
from pub med: true

Alzheimer's disease
type: Class
subclass of: tauopathy
definition: 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.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29213881
database_cross_reference: CSP2005:0485-6737
database_cross_reference: EFO:0000249
database_cross_reference: GARD:10254
database_cross_reference: ICD10CM:G30
database_cross_reference: ICD10CM:G30.9
database_cross_reference: ICD9CM:331.0
database_cross_reference: KEGG:05010
database_cross_reference: MESH:D000544
database_cross_reference: NCI:C2866
database_cross_reference: SNOMEDCT_US_2018_03_01:26929004
database_cross_reference: SNOMEDCT_US_2018_03_01:73768007
database_cross_reference: UMLS_CUI:C0002395
alternative_term: Alzheimer disease
alternative_term: Alzheimers dementia
has_obo_namespace: disease_ontology
id: DOID:10652
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
from ESSO: true
from pub med: true

kidney failure
type: Class
subclass of: kidney disease
definition: A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/11864518
database_cross_reference: ICD10CM:N19
database_cross_reference: ICD9CM:586
database_cross_reference: MESH:D051437
database_cross_reference: NCI:C4376
database_cross_reference: SNOMEDCT_US_2018_03_01:42399005
database_cross_reference: UMLS_CUI:C0035078
alternative_term: renal failure
has_obo_namespace: disease_ontology
id: DOID:1074
in subset: NCIthesaurus
comment: PRISM.
from pub med: true

hypertension
type: Class
subclass of: artery disease
definition: An artery disease characterized by chronic elevated blood pressure in the arteries.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/31055731
database_cross_reference: CSP2005:0571-5243
database_cross_reference: CSP2005:4003-0017
database_cross_reference: EFO:0000537
database_cross_reference: ICD10CM:I10
database_cross_reference: ICD9CM:401-405.99
database_cross_reference: ICD9CM:997.91
database_cross_reference: MESH:D006973
database_cross_reference: NCI2004_11_17:C3117
database_cross_reference: NCI:C3117
database_cross_reference: SNOMEDCT_US_2018_03_01:38341003
database_cross_reference: UMLS_CUI:C0020538
alternative_term: HTN
alternative_term: High blood pressure
alternative_term: hyperpiesia
alternative_term: vascular hypertensive disorder
has_obo_namespace: disease_ontology
has_related_synonym: hypertensive disease
id: DOID:10763
in subset: NCIthesaurus
from ESSO: true
from pub med: true

microcephaly
type: Class
subclass of: brain disease
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/11104349
database_cross_reference: CSP2005:0723-5649
database_cross_reference: GARD:3603
database_cross_reference: GARD:7038
database_cross_reference: ICD10CM:Q02
database_cross_reference: ICD9CM:742.1
database_cross_reference: ICD9CM_2006:742.1
database_cross_reference: MESH:D008831
database_cross_reference: NCI:C85874
database_cross_reference: SNOMEDCT_US_2018_03_01:1829003
database_cross_reference: UMLS_CUI:C0025958
has definition: 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.
alternative_term: Microcephalus
alternative_term: microencephaly
has_obo_namespace: disease_ontology
id: DOID:10907
in subset: DO FlyBase slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].
from pub med: true

Axiom
annotated source: microcephaly
annotated property: hasDefinition
annotated target: 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.

amnestic disorder
type: Class
subclass of: cognitive disorder
definition: 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.
imported from: doid.owl
has_alternative_id: DOID:4544
database_cross_reference: ICD10CM:R41.3
database_cross_reference: ICD9CM:294.0
database_cross_reference: MESH:D000647
database_cross_reference: MTHICD9_2006:294.0
database_cross_reference: NCI2004_11_17:C35764
database_cross_reference: NCI:C2867
database_cross_reference: SNOMEDCT_US_2018_03_01:3298001
database_cross_reference: SNOMEDCT_US_2018_03_01:48167000
database_cross_reference: SNOMEDCT_US_2018_03_01:78461004
database_cross_reference: UMLS_CUI:C0002622
database_cross_reference: UMLS_CUI:C0002625
alternative_term: Amnestic syndrome
alternative_term: Korsakoff's psychosis or syndrome
alternative_term: amnesia
has_obo_namespace: disease_ontology
id: DOID:10914
in subset: DO FlyBase slim
in subset: NCIthesaurus
from ESSO: true

obsessive-compulsive disorder
type: Class
subclass of: anxiety disorder
definition: An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions).
imported from: doid.owl
database_cross_reference: ICD10CM:F42
database_cross_reference: ICD10CM:F42.8
database_cross_reference: ICD10CM:F42.9
database_cross_reference: ICD9CM:300.3
database_cross_reference: MESH:D009771
database_cross_reference: MTHICD9_2006:300.3
database_cross_reference: NCI:C88411
database_cross_reference: SNOMEDCT_US_2018_03_01:71478004
database_cross_reference: UMLS_CUI:C0028768
alternative_term: Anancastic neurosis
alternative_term: obsessive compulsive disorder
has_obo_namespace: disease_ontology
id: DOID:10933
in subset: NCIthesaurus
from article: true

multiple personality disorder
type: Class
subclass of: disease of mental health
definition: A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/2912820
database_cross_reference: ICD10CM:F44.81
database_cross_reference: ICD9CM:300.14
database_cross_reference: ICD9CM_2006:300.14
database_cross_reference: MESH:D009105
database_cross_reference: NCI:C94330
database_cross_reference: SNOMEDCT_US_2018_03_01:31611000
database_cross_reference: UMLS_CUI:C0026773
alternative_term: Dissociative identity disorder
has_obo_namespace: disease_ontology
id: DOID:10934
in subset: NCIthesaurus
from pub med: true

dissociative disorder
type: Class
subclass of: Behavioral Disorder
definition: A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated).
imported from: doid.owl
has_alternative_id: DOID:4963
database_cross_reference: CSP2005:2483-7018
database_cross_reference: ICD10CM:F44.9
database_cross_reference: ICD10CM:F48.9
database_cross_reference: ICD9CM:300.15
database_cross_reference: ICD9CM:300.9
database_cross_reference: MESH:D004213
database_cross_reference: NCI:C92197
database_cross_reference: SNOMEDCT_US_2018_03_01:44376007
database_cross_reference: UMLS_CUI:C0012746
database_cross_reference: UMLS_CUI:C0041857
has definition: 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.
alternative_term: dissociative disease
alternative_term: dissociative reaction
alternative_term: dissociative state
has_obo_namespace: disease_ontology
id: DOID:10935
in subset: NCIthesaurus
from ILAE: true

Axiom
annotated source: dissociative disorder
annotated property: hasDefinition
annotated target: 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.

attention deficit hyperactivity disorder
type: Class
subclass of: specific developmental disorder
definition: 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.
imported from: doid.owl
has_alternative_id: DOID:1093
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28749241
database_cross_reference: EFO:0003888
database_cross_reference: MESH:D001289
database_cross_reference: NCI:C35092
database_cross_reference: OMIM:143465
database_cross_reference: OMIM:608903
database_cross_reference: OMIM:608904
database_cross_reference: OMIM:608905
database_cross_reference: OMIM:608906
database_cross_reference: OMIM:612311
database_cross_reference: OMIM:612312
database_cross_reference: UMLS_CUI:C0041671
alternative_term: ADHD
alternative_term: attention deficit disorder
alternative_term: hyperkinetic disorder
has_obo_namespace: disease_ontology
id: DOID:1094
in subset: NCIthesaurus
comment: Xref MGI.
from ESSO: true
from pub med: true

hemiplegia
type: Class
subclass of: central nervous system disease
definition: A central nervous system disease that is characterized by the complete paralysis of half of the body.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28043687
database_cross_reference: GARD:6583
database_cross_reference: ICD9CM:343.4
database_cross_reference: MESH:D006429
database_cross_reference: MTHICD9_2006:343.4
database_cross_reference: SNOMEDCT_US_2018_03_01:1593000
database_cross_reference: UMLS_CUI:C0392550
alternative_term: Infantile hemiplegia
alternative_term: Postnatal infantile hemiplegia
has_obo_namespace: disease_ontology
id: DOID:10969
from pub med: true

depersonalization disorder
type: Class
subclass of: disease of mental health
definition: A dissociative disorder in which the sufferer is affected by persistent or recurrent feelings of depersonalization and/or derealization.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/31437864
database_cross_reference: GARD:6260
database_cross_reference: ICD9CM:300.6
database_cross_reference: MESH:D003861
database_cross_reference: MTHICD9_2006:300.6
database_cross_reference: NCI:C94331
database_cross_reference: SNOMEDCT_US_2018_03_01:70764005
database_cross_reference: UMLS_CUI:C0683416
alternative_term: Depersonalization
alternative_term: Neurotic derealization
has_obo_namespace: disease_ontology
id: DOID:11038
in subset: NCIthesaurus
from ESSO: true
from pub med: true

hypoparathyroidism
type: Class
subclass of: parathyroid gland disease
definition: 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.
imported from: doid.owl
database_cross_reference: GARD:6733
database_cross_reference: ICD10CM:E20
database_cross_reference: ICD10CM:E20.9
database_cross_reference: ICD9CM:252.1
database_cross_reference: MESH:D007011
database_cross_reference: NCI:C78350
database_cross_reference: OMIM:146200
database_cross_reference: OMIM:307700
database_cross_reference: ORDO:2238
database_cross_reference: SNOMEDCT_US_2018_03_01:36976004
database_cross_reference: UMLS_CUI:C0020626
has_obo_namespace: disease_ontology
id: DOID:11199
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.
from article: true

parathyroid gland disease
type: Class
subclass of: endocrine system disease
definition: An endocrine system disease that is located_in the parathyroid gland.
imported from: doid.owl
database_cross_reference: ICD10CM:E21.5
database_cross_reference: ICD9CM:252
database_cross_reference: ICD9CM:252.9
database_cross_reference: MESH:D010279
database_cross_reference: NCI:C26844
database_cross_reference: SNOMEDCT_US_2018_03_01:73132005
database_cross_reference: UMLS_CUI:C0030517
alternative_term: disease of parathyroid glands
has_obo_namespace: disease_ontology
id: DOID:11201
in subset: NCIthesaurus

social phobia
type: Class
subclass of: phobic disorder
definition: 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.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28360564
database_cross_reference: ICD10CM:F40.1
database_cross_reference: ICD10CM:F40.10
database_cross_reference: ICD9CM:300.23
database_cross_reference: MESH:D000072861
database_cross_reference: NCI:C34927
database_cross_reference: SNOMEDCT_US_2018_03_01:25501002
database_cross_reference: UMLS_CUI:C0031572
has_obo_namespace: disease_ontology
id: DOID:11257
in subset: NCIthesaurus
from pub med: true

arteriovenous malformation
type: Class
subclass of: vascular malformation
definition: A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system.
imported from: doid.owl
database_cross_reference: ICD10CM:I77.0
database_cross_reference: NCI2004_11_17:C4297
database_cross_reference: NCI:C2882
database_cross_reference: SNOMEDCT_US_2018_03_01:11071001
database_cross_reference: SNOMEDCT_US_2018_03_01:14156004
database_cross_reference: UMLS_CUI:C0334533
has definition: 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.
alternative_term: Arteriovenous hemangioma
alternative_term: Cirsoid aneurysm
alternative_term: Racemose Angioma
alternative_term: Racemose aneurysm
alternative_term: Racemose hemangioma
has_obo_namespace: disease_ontology
id: DOID:11294
in subset: NCIthesaurus
from ILAE: true

Axiom
annotated source: arteriovenous malformation
annotated property: hasDefinition
annotated target: 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.

sarcoidosis
type: Class
subclass of: hypersensitivity reaction type IV disease
definition: A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.
imported from: doid.owl
database_cross_reference: CSP2005:2024-3715
database_cross_reference: GARD:7607
database_cross_reference: ICD10CM:D80-D89
database_cross_reference: ICD10CM:D86
database_cross_reference: ICD10CM:D86.9
database_cross_reference: ICD9CM:135
database_cross_reference: MESH:D012507
database_cross_reference: NCI:C34995
database_cross_reference: ORDO:797
database_cross_reference: SNOMEDCT_US_2018_03_01:31541009
database_cross_reference: UMLS_CUI:C0036202
alternative_term: Boeck sarcoid
alternative_term: lymphogranulomatosis
has_obo_namespace: disease_ontology
id: DOID:11335
in subset: NCIthesaurus
from article: true

heart disease
type: Class
subclass of: cardiovascular system disease
definition: A cardiovascular system disease that involves the heart.
imported from: doid.owl
database_cross_reference: ICD10CM:I51.9
database_cross_reference: ICD9CM:429.9
database_cross_reference: MESH:D006331
database_cross_reference: NCI:C3079
database_cross_reference: SNOMEDCT_US_2018_03_01:56265001
database_cross_reference: UMLS_CUI:C0018799
alternative_term: Cardiac Disorders
has_obo_namespace: disease_ontology
id: DOID:114
in subset: DO FlyBase slim
in subset: NCIthesaurus
from article: true

autonomic nervous system disease
type: Class
subclass of: peripheral nervous system disease
imported from: doid.owl
database_cross_reference: ICD9CM:337.1
database_cross_reference: UMLS_CUI:C0154691
alternative_term: autonomic nervous system disorder
has_obo_namespace: disease_ontology
id: DOID:11465

bronchial disease
type: Class
subclass of: lower respiratory tract disease
definition: 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.
imported from: doid.owl
has_alternative_id: DOID:1175
has_alternative_id: DOID:12322
database_cross_reference: MESH:D001982
database_cross_reference: SNOMEDCT_US_2018_03_01:41427001
database_cross_reference: UMLS_CUI:C0006261
alternative_term: Bronchospasm
has_obo_namespace: disease_ontology
id: DOID:1176

allergic hypersensitivity disease
type: Class
subclass of: hypersensitivity reaction disease
definition: 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.
imported from: doid.owl
IEDB alternative term: allergic disease
database_cross_reference: ICD10CM:T78.40
database_cross_reference: MESH:D006967
database_cross_reference: NCI:C3114
database_cross_reference: SNOMEDCT_US_2018_03_01:21957007
database_cross_reference: SNOMEDCT_US_2018_03_01:91232002
database_cross_reference: UMLS_CUI:C0020517
alternative_term: allergic disease
alternative_term: hypersensitivity
alternative_term: hypersensitivity reaction type I disease
has_obo_namespace: disease_ontology
id: DOID:1205
in subset: NCIthesaurus

granulomatosis with polyangiitis
type: Class
subclass of: skin disease
subclass of: autoimmune hypersensitivity disease
subclass of: kidney disease
subclass of: lung disease
definition: 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.
imported from: doid.owl
database_cross_reference: GARD:7880
database_cross_reference: ICD10CM:M31.3
database_cross_reference: ICD10CM:M31.30
database_cross_reference: ICD9CM:446.4
database_cross_reference: MESH:D014890
database_cross_reference: MTHICD9_2006:446.4
database_cross_reference: NCI:C3444
database_cross_reference: OMIM:608710
database_cross_reference: SNOMEDCT_US_2018_03_01:23782005
database_cross_reference: UMLS_CUI:C3495801
alternative_term: Necrotizing respiratory granulomatosis
alternative_term: Wegener granulomatosis, formerly
has_obo_namespace: disease_ontology
id: DOID:12132
in subset: NCIthesaurus
from article: true

dyscalculia
type: Class
subclass of: learning disability
definition: 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.
imported from: doid.owl
database_cross_reference: MESH:D060705
alternative_term: Mathematics disorder
alternative_term: disorder of arithmetical skills
has_obo_namespace: disease_ontology
id: DOID:12568
from ILAE: true

cardiovascular system disease
type: Class
subclass of: disease of anatomical entity
definition: 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.
imported from: doid.owl
has_alternative_id: DOID:73
database_cross_reference: ICD9CM:429.2
database_cross_reference: MESH:D002318
database_cross_reference: NCI:C2931
database_cross_reference: SNOMEDCT_US_2018_03_01:49601007
database_cross_reference: UMLS_CUI:C0007222
alternative_term: disease of subdivision of hemolymphoid system
has_obo_namespace: disease_ontology
id: DOID:1287
in subset: DO AGR slim
in subset: DO GXD slim
in subset: DO MGI slim
in subset: NCIthesaurus

neurodegenerative disease
type: Class
subclass of: central nervous system disease
definition: A central nervous system disease that results in the progressive deterioration of function or structure of neurons.
imported from: doid.owl
has_alternative_id: DOID:4874
database_cross_reference: ICD10CM:G31.9
database_cross_reference: MESH:D019636
database_cross_reference: NCI2004_11_17:C4802
database_cross_reference: NCI:C27090
database_cross_reference: UMLS_CUI:C0524851
database_cross_reference: UMLS_CUI:C1285162
alternative_term: Neurodegenerative disease
alternative_term: degenerative disease
has_obo_namespace: disease_ontology
id: DOID:1289
in subset: DO FlyBase slim
in subset: NCIthesaurus

Sjogren's syndrome
type: Class
subclass of: autoimmune hypersensitivity disease
definition: An autoimmune hypersensitivity disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.
imported from: doid.owl
has_alternative_id: DOID:416
database_cross_reference: CSP2005:0729-8405
database_cross_reference: GARD:10252
database_cross_reference: ICD10CM:M35.0
database_cross_reference: ICD10CM:M35.00
database_cross_reference: ICD9CM:710.2
database_cross_reference: MESH:D012859
database_cross_reference: NCI:C26883
database_cross_reference: NCI:C70647
database_cross_reference: OMIM:270150
database_cross_reference: SNOMEDCT_US_2018_03_01:83901003
database_cross_reference: UMLS_CUI:C0086981
database_cross_reference: UMLS_CUI:C1527336
alternative_term: Sicca syndrome
alternative_term: Sjogren syndrome
alternative_term: xerodermosteosis
has_obo_namespace: disease_ontology
id: DOID:12894
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].
from article: true

transient global amnesia
type: Class
subclass of: amnestic disorder
definition: An amnestic disorder that is characterized by temporary but almost total disruption of short-term memory with a range of problems accessing older memories.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/3579680
database_cross_reference: GARD:8172
database_cross_reference: ICD10CM:G45.4
database_cross_reference: ICD9CM:437.7
database_cross_reference: MESH:D020236
database_cross_reference: NCI:C85198
database_cross_reference: UMLS_CUI:C0338591
has_obo_namespace: disease_ontology
id: DOID:13027
in subset: NCIthesaurus
from pub med: true

dementia
type: Class
subclass of: cognitive disorder
definition: A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/20161538
database_cross_reference: ICD9CM:290.8
database_cross_reference: MESH:D003704
database_cross_reference: UMLS_CUI:C0154319
has_obo_namespace: disease_ontology
id: DOID:1307
from pub med: true

acute cystitis
type: Class
subclass of: cystitis
definition: A cystitis characterized by a sudden onset or severe symptoms.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30279715
database_cross_reference: ICD10CM:N30.0
database_cross_reference: ICD9CM:595.0
database_cross_reference: NCI:C26934
database_cross_reference: SNOMEDCT_US_2018_03_01:68226007
database_cross_reference: UMLS_CUI:C0149523
alternative_term: urinary tract infection
has_obo_namespace: disease_ontology
id: DOID:13148
in subset: NCIthesaurus
from pub med: true

brain cancer
type: Class
subclass of: brain disease
definition: A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain.
imported from: doid.owl
has_alternative_id: DOID:2125
has_alternative_id: DOID:2126
has_alternative_id: DOID:3543
has_alternative_id: DOID:6649
has_alternative_id: DOID:911
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/32034533
database_cross_reference: CSP2005:2006-2736
database_cross_reference: ICD10CM:C71
database_cross_reference: ICD10CM:C71.9
database_cross_reference: ICD9CM:191
database_cross_reference: ICD9CM:191.9
database_cross_reference: ICD9CM:239.6
database_cross_reference: MESH:D001932
database_cross_reference: NCI2004_11_17:C2907
database_cross_reference: NCI2004_11_17:C3568
database_cross_reference: NCI2004_11_17:C4952
database_cross_reference: NCI2004_11_17:C4954
database_cross_reference: NCI2004_11_17:C5115
database_cross_reference: NCI2004_11_17:C7710
database_cross_reference: NCI:C2907
database_cross_reference: NCI:C3568
database_cross_reference: NCI:C4952
database_cross_reference: NCI:C4954
database_cross_reference: NCI:C5115
database_cross_reference: NCI:C7710
database_cross_reference: SNOMEDCT_US_2018_03_01:93727008
database_cross_reference: UMLS_CUI:C0006118
database_cross_reference: UMLS_CUI:C0153633
database_cross_reference: UMLS_CUI:C0220624
database_cross_reference: UMLS_CUI:C0750974
database_cross_reference: UMLS_CUI:C0750979
database_cross_reference: UMLS_CUI:C1334557
alternative_term: BT - Brain tumour
alternative_term: adult brain tumor
alternative_term: adult malignant brain neoplasm
alternative_term: brain neoplasm
alternative_term: brain neoplasm, adult
alternative_term: malignant brain tumour
alternative_term: malignant primary brain neoplasm
alternative_term: malignant primary brain tumor
alternative_term: malignant tumor of Brain
alternative_term: malignant tumor of adult brain
alternative_term: neoplasm of brain
alternative_term: primary brain neoplasm
alternative_term: primary brain tumor
alternative_term: primary malignant neoplasm of brain
alternative_term: tumor of the Brain
has_obo_namespace: disease_ontology
id: DOID:1319
in subset: DO FlyBase slim
in subset: DO cancer slim
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim
from pub med: true

porphyria
type: Class
subclass of: inherited metabolic disorder
definition: An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins.
imported from: doid.owl
database_cross_reference: GARD:10353
database_cross_reference: ICD10CM:E80.20
database_cross_reference: ICD9CM:277.1
database_cross_reference: ICD9CM_2006:277.1
database_cross_reference: MESH:D011164
database_cross_reference: MTHICD9_2006:277.1
database_cross_reference: NCI:C97096
database_cross_reference: SNOMEDCT_US_2018_03_01:29094004
database_cross_reference: SNOMEDCT_US_2018_03_01:86292002
database_cross_reference: UMLS_CUI:C0032708
alternative_term: Hematoporphyria
alternative_term: Porphyrinopathy
alternative_term: disorder of porphyrin and hem metabolism
alternative_term: disorder of porphyrin metabolism
has_obo_namespace: disease_ontology
id: DOID:13268
in subset: NCIthesaurus

hyperinsulinemic hypoglycemia
type: Class
subclass of: carbohydrate metabolic disorder
definition: A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.
imported from: doid.owl
has_alternative_id: DOID:9996
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/27531853
database_cross_reference: ICD10CM:E16.9
database_cross_reference: MESH:D046768
database_cross_reference: NCI:C4375
database_cross_reference: SNOMEDCT_US_2018_03_01:42681006
database_cross_reference: SNOMEDCT_US_2018_03_01:66149005
database_cross_reference: UMLS_CUI:C0027773
alternative_term: Islet cell hyperplasia
alternative_term: nesidioblastosis
alternative_term: persistent hyperinsulinemia hypoglycemia of infancy
has_obo_namespace: disease_ontology
id: DOID:13317
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].
from pub med: true

reading disorder
type: Class
subclass of: learning disability
definition: A learning disability involing difficulty reading resulting primarily from neurological factors which affect any part of the reading process.
imported from: doid.owl
database_cross_reference: ICD9CM:315.09
database_cross_reference: UMLS_CUI:C0154631
has_obo_namespace: disease_ontology
id: DOID:13365

tuberous sclerosis
type: Class
subclass of: Malformations of Cortical Development
definition: A syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body.
imported from: doid.owl
database_cross_reference: CSP2005:0727-2535
database_cross_reference: GARD:7830
database_cross_reference: ICD10CM:Q85.1
database_cross_reference: ICD9CM:759.5
database_cross_reference: MESH:D014402
database_cross_reference: MTHICD9_2006:759.5
database_cross_reference: NCI2004_11_17:C3424
database_cross_reference: NCI:C3424
database_cross_reference: OMIM:PS191100
database_cross_reference: SNOMEDCT_US_2018_03_01:7199000
database_cross_reference: UMLS_CUI:C0041341
has definition: 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.
alternative_term: Bourneville's disease
alternative_term: Epiloia
alternative_term: Tuberose sclerosis
alternative_term: Tuberous sclerosis syndrome
alternative_term: cerebral sclerosis
has_obo_namespace: disease_ontology
id: DOID:13515
in subset: DO FlyBase slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].
from ILAE: true

Axiom
annotated source: tuberous sclerosis
annotated property: hasDefinition
annotated target: 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.

cerebral malaria
type: Class
subclass of: infectious etiology
definition: 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.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK83677/
database_cross_reference: ICD10CM:B50.0
database_cross_reference: MESH:D016779
database_cross_reference: NCI:C128373
database_cross_reference: SNOMEDCT_US_2018_03_01:53622003
database_cross_reference: UMLS_CUI:C0024534
has definition: 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.
alternative_term: Malarial encephalitis
has_obo_namespace: disease_ontology
id: DOID:14069
in subset: NCIthesaurus
from ILAE: true
from NCBI book: true

Axiom
annotated source: cerebral malaria
annotated property: hasDefinition
annotated target: 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.

Down syndrome
type: Class
subclass of: chromosomal anomaly
definition: 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.
imported from: doid.owl
database_cross_reference: CSP2005:1254-8068
database_cross_reference: GARD:10247
database_cross_reference: ICD10CM:Q90
database_cross_reference: ICD10CM:Q90.9
database_cross_reference: ICD9CM:758.0
database_cross_reference: MESH:D004314
database_cross_reference: MTHICD9_2006:758.0
database_cross_reference: NCI2004_11_17:C2993
database_cross_reference: NCI:C2993
database_cross_reference: OMIM:190685
database_cross_reference: ORDO:870
database_cross_reference: SNOMEDCT_US_2018_03_01:41040004
database_cross_reference: UMLS_CUI:C0013080
has definition: 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.
alternative_term: Complete trisomy 21 syndrome
alternative_term: Down's syndrome
alternative_term: Down's syndrome - trisomy 21
alternative_term: Downs syndrome
alternative_term: G Trisomy
alternative_term: trisomy 21 syndrome
has_obo_namespace: disease_ontology
id: DOID:14250
in subset: DO FlyBase slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].
from ESSO: true
from ILAE: true

Axiom
annotated source: Down syndrome
annotated property: hasDefinition
annotated target: 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.

neuronal ceroid lipofuscinosis
type: Class
subclass of: lipid storage disease
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/25387857
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/27629553
database_cross_reference: CSP2005:1849-6833
database_cross_reference: GARD:10739
database_cross_reference: ICD10CM:E75.4
database_cross_reference: MESH:D009472
database_cross_reference: NCI:C61257
database_cross_reference: OMIM:PS256730
database_cross_reference: ORDO:216
database_cross_reference: ORDO:79262
database_cross_reference: SNOMEDCT_US_2018_03_01:42012007
database_cross_reference: UMLS_CUI:C0027877
alternative_term: hereditary ceroid lipofuscinosis
has_obo_namespace: disease_ontology
id: DOID:14503
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS].
from pub med: true

Niemann-Pick disease
type: Class
subclass of: sphingolipidosis
definition: A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells.
imported from: doid.owl
has_alternative_id: DOID:0050442
has_alternative_id: DOID:0050443
has_alternative_id: DOID:14770
database_cross_reference: GARD:13334
database_cross_reference: ICD10CM:E75.24
database_cross_reference: ICD10CM:E75.249
database_cross_reference: MESH:D009542
database_cross_reference: NCI:C61269
database_cross_reference: SNOMEDCT_US_2018_03_01:58459009
database_cross_reference: UMLS_CUI:C0028064
alternative_term: Sphingomyelinase Deficiency Disease
alternative_term: lipoid histiocytosis
alternative_term: sphingomyelin lipidosis
has_obo_namespace: disease_ontology
id: DOID:14504
in subset: DO FlyBase slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].
from article: true

disease of cellular proliferation
type: Class
subclass of: disease
definition: A disease that is characterized by abnormally rapid cell division.
imported from: doid.owl
has_alternative_id: DOID:0000818
alternative_term: cell process disease
alternative_term: neoplasm
has_obo_namespace: disease_ontology
id: DOID:14566
in subset: DO FlyBase slim

disease of mental health
type: Class
subclass of: disease
definition: 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.
imported from: doid.owl
database_cross_reference: ICD10CM:F99
database_cross_reference: ICD10CM:F99-F99
database_cross_reference: MESH:D001523
database_cross_reference: NCI:C2893
database_cross_reference: SNOMEDCT_US_2018_03_01:74732009
database_cross_reference: UMLS_CUI:C0004936
has_obo_namespace: disease_ontology
id: DOID:150
in subset: DO AGR slim
in subset: DO GXD slim
in subset: DO MGI slim
in subset: NCIthesaurus

personality disorder
type: Class
subclass of: disease of mental health
definition: A disease of mental health that involve long-term patterns of thoughts and behaviors that cause serious problems with relationships and work.
imported from: doid.owl
database_cross_reference: ICD9CM:301.8
database_cross_reference: ICD9CM:301.89
database_cross_reference: UMLS_CUI:C0029707
alternative_term: character disorder
has_obo_namespace: disease_ontology
id: DOID:1510

cognitive disorder
type: Class
subclass of: disease of mental health
definition: A disease of mental health that affects cognitive functions including memory processing, perception and problem solving.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/20161538
database_cross_reference: ICD10CM:F09
database_cross_reference: MESH:D019965
database_cross_reference: NCI2004_11_17:C34870
database_cross_reference: NCI:C34870
database_cross_reference: UMLS_CUI:C0029227
alternative_term: cognitive disease
has_obo_namespace: disease_ontology
has_related_synonym: Organic Mental disorder
id: DOID:1561
in subset: NCIthesaurus
from pub med: true

fungal infectious disease
type: Class
subclass of: disease by infectious agent
definition: 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.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26423537
database_cross_reference: ICD10CM:B35-B49
database_cross_reference: ICD10CM:B49
database_cross_reference: ICD9CM:110-118.99
database_cross_reference: MESH:D009181
database_cross_reference: NCI:C3245
database_cross_reference: SNOMEDCT_US_2018_03_01:3218000
database_cross_reference: UMLS_CUI:C0026946
alternative_term: mycosis
has_obo_namespace: disease_ontology
has_related_synonym: mycoses
id: DOID:1564
in subset: DO AGR slim
in subset: NCIthesaurus
from pub med: true

alcohol use disorder
type: Class
subclass of: substance abuse
definition: A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.
imported from: doid.owl
database_cross_reference: ICD10CM:F10.1
database_cross_reference: ICD9CM:305.0
database_cross_reference: ICD9CM:305.00
database_cross_reference: MESH:D000437
database_cross_reference: NCI:C20701
database_cross_reference: SNOMEDCT_US_2018_03_01:15167005
database_cross_reference: UMLS_CUI:C0085762
alternative_term: Alcohol Abuse
alternative_term: Ethanol abuse
alternative_term: alcohol abuse
has_obo_namespace: disease_ontology
id: DOID:1574
in subset: DO FlyBase slim
in subset: NCIthesaurus
from article: true

rheumatic disease
type: Class
subclass of: autoimmune disease of musculoskeletal system
subclass of: connective tissue disease
definition: An autoimmune hypersensitivity disease that involves inflammation or pain in the muscles, joints, or fibrous tissue.
imported from: doid.owl
has_obo_namespace: disease_ontology
id: DOID:1575

respiratory system disease
type: Class
subclass of: disease of anatomical entity
definition: A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm.
imported from: doid.owl
has_alternative_id: DOID:3226
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/20161538
database_cross_reference: ICD10CM:J96-J99
database_cross_reference: ICD10CM:J98
database_cross_reference: ICD9CM:510-519.99
database_cross_reference: ICD9CM:519
database_cross_reference: UMLS_CUI:C0029582
has_obo_namespace: disease_ontology
id: DOID:1579
in subset: DO AGR slim
in subset: DO GXD slim
in subset: DO MGI slim
from pub med: true

integumentary system disease
type: Class
subclass of: disease of anatomical entity
definition: A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages.
imported from: doid.owl
has_obo_namespace: disease_ontology
id: DOID:16
in subset: DO AGR slim
in subset: DO GXD slim
in subset: DO MGI slim

cystitis
type: Class
subclass of: bladder disease
definition: A bladder disease that is characterized by inflammation of the bladder.
imported from: doid.owl
database_cross_reference: ICD10CM:N30
database_cross_reference: ICD10CM:N30.9
database_cross_reference: ICD9CM:595
database_cross_reference: ICD9CM:595.9
database_cross_reference: MESH:D003556
database_cross_reference: NCI:C26738
database_cross_reference: SNOMEDCT_US_2018_03_01:38822007
database_cross_reference: UMLS_CUI:C0010692
has_obo_namespace: disease_ontology
id: DOID:1679
in subset: NCIthesaurus

congenital heart disease
type: Class
subclass of: heart disease
imported from: doid.owl
database_cross_reference: CSP2005:0724-8315
database_cross_reference: ICD10CM:Q24.9
database_cross_reference: ICD9CM:746.9
database_cross_reference: MESH:D006330
database_cross_reference: NCI2004_11_17:C34666
database_cross_reference: NCI:C34666
database_cross_reference: SNOMEDCT_US_2018_03_01:13213009
database_cross_reference: UMLS_CUI:C0018798
has definition: 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.
alternative_term: Congenital Heart Defects
alternative_term: Congenital anomaly of heart
alternative_term: Heart Malformation
alternative_term: congenital heart defect
alternative_term: heart defect
has_obo_namespace: disease_ontology
has_related_synonym: Heart-congenital defect
id: DOID:1682
in subset: DO FlyBase slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].
from article: true

Axiom
annotated source: congenital heart disease
annotated property: hasDefinition
annotated target: 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.

musculoskeletal system disease
type: Class
subclass of: disease of anatomical entity
definition: A disease of anatomical entity that occurs in the muscular and/or skeletal system.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/20161538
database_cross_reference: MESH:D009140
database_cross_reference: NCI:C107377
database_cross_reference: SNOMEDCT_US_2018_03_01:928000
database_cross_reference: UMLS_CUI:C0026857
has_obo_namespace: disease_ontology
id: DOID:17
in subset: DO AGR slim
in subset: DO GXD slim
in subset: DO MGI slim
in subset: NCIthesaurus
from pub med: true

factitious disorder
type: Class
subclass of: Behavioral Disorder
definition: A disease of mental health where symptoms are deliberately produced, feigned or exaggerated in order to falsely demonstrate the presence of an illness.
imported from: doid.owl
database_cross_reference: ICD10CM:F68.11
database_cross_reference: ICD9CM:300.16
database_cross_reference: SNOMEDCT_US_2018_03_01:31122002
database_cross_reference: UMLS_CUI:C0015481
has definition: 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.
alternative_term: Fabricated / factitious illness
alternative_term: Munchausen syndrome
has_obo_namespace: disease_ontology
has_related_synonym: Factitious seizures
has_related_synonym: Fictitious epilepsy
id: DOID:1766
from ILAE: true

Axiom
annotated source: factitious disorder
annotated property: hasDefinition
annotated target: 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.

conversion disorder
type: Class
subclass of: somatoform disorder
definition: A somatoform disorder that involves numbness, blindness, paralysis or fits without a neurological cause.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK2609/
database_cross_reference: GARD:6191
database_cross_reference: ICD10CM:F44
database_cross_reference: ICD9CM:300.11
database_cross_reference: MESH:D003291
database_cross_reference: MTHICD9_2006:300.11
database_cross_reference: SNOMEDCT_US_2018_03_01:20734000
database_cross_reference: SNOMEDCT_US_2018_03_01:44376007
database_cross_reference: SNOMEDCT_US_2018_03_01:89239005
database_cross_reference: UMLS_CUI:C0009946
alternative_term: Conversion Hysterical Neurosis
alternative_term: Conversion hysteria or reaction
alternative_term: Hysterical neurosis, conversion type
has_obo_namespace: disease_ontology
id: DOID:1768
from NCBI book: true

vascular disease
type: Class
subclass of: cardiovascular system disease
definition: 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.
imported from: doid.owl
has_alternative_id: DOID:0000405
has_alternative_id: DOID:2403
has_alternative_id: DOID:2869
has_alternative_id: DOID:324
has_alternative_id: DOID:325
has_alternative_id: DOID:45
database_cross_reference: ICD10CM:I72.9
database_cross_reference: ICD9CM:442.9
database_cross_reference: MESH:D000783
database_cross_reference: MESH:D014652
database_cross_reference: MESH:D020758
database_cross_reference: MESH:D020760
database_cross_reference: NCI:C26693
database_cross_reference: NCI:C35117
database_cross_reference: SNOMEDCT_US_2018_03_01:27550009
database_cross_reference: SNOMEDCT_US_2018_03_01:85659009
database_cross_reference: UMLS_CUI:C0002940
database_cross_reference: UMLS_CUI:C0042373
database_cross_reference: UMLS_CUI:C0752127
database_cross_reference: UMLS_CUI:C0752130
alternative_term: vascular tissue disease
has_obo_namespace: disease_ontology
id: DOID:178
in subset: NCIthesaurus

urinary system disease
type: Class
subclass of: disease of anatomical entity
definition: A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra.
imported from: doid.owl
has_alternative_id: DOID:579
database_cross_reference: NCI2004_11_17:C27599
database_cross_reference: NCI:C27599
database_cross_reference: UMLS_CUI:C1335051
alternative_term: Non-neoplastic urinary tract disease
alternative_term: urinary tract disease
has_obo_namespace: disease_ontology
id: DOID:18
in subset: DO AGR slim
in subset: DO GXD slim
in subset: DO MGI slim
in subset: NCIthesaurus

childhood absence epilepsy
type: Class
subclass of: idiopathic generalized epilepsy
subclass of: childhood-onset epilepsy syndrome
definition: A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years.
imported from: doid.owl
database_cross_reference: CSP2005:0485-7316
database_cross_reference: MESH:D004832
database_cross_reference: NCI:C3023
database_cross_reference: SNOMEDCT_US_2018_03_01:16757004
database_cross_reference: SNOMEDCT_US_2018_03_01:79631006
database_cross_reference: UMLS_CUI:C0014553
has definition: 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.
alternative_term: petit mal seizure
alternative_term: pyknolepsy
has_obo_namespace: disease_ontology
has_related_synonym: absence seizure
id: DOID:1825
in subset: NCIthesaurus
from EPILONT: true
from ESSO: true
from ILAE: true

Axiom
annotated source: childhood absence epilepsy
annotated property: hasDefinition
annotated target: 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.

epilepsy
type: Class
subclass of: brain disease
subclass of: Restriction
  some values from: epilepsy
definition: 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.
imported from: doid.owl
database_cross_reference: EFO:0000474
database_cross_reference: ICD10CM:G40.9
database_cross_reference: ICD10CM:G40.909
database_cross_reference: ICD9CM:345.9
database_cross_reference: MESH:D004827
database_cross_reference: NCI:C3020
database_cross_reference: SNOMEDCT_US_2018_03_01:84757009
database_cross_reference: UMLS_CUI:C0014544
alternative_term: epilepsy syndrome
alternative_term: epileptic syndrome
has_obo_namespace: disease_ontology
id: DOID:1826
in subset: DO FlyBase slim
in subset: NCIthesaurus

idiopathic generalized epilepsy
type: Class
subclass of: epilepsy classification
subclass of: Restriction
  some values from: epilepsy
definition: 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.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK546611/
database_cross_reference: MESH:D004829
database_cross_reference: NCI:C3021
database_cross_reference: OMIM:600669
database_cross_reference: SNOMEDCT_US_2018_03_01:19598007
database_cross_reference: UMLS_CUI:C0014548
alternative_term: Generalised epilepsy
has_obo_namespace: disease_ontology
id: DOID:1827
in subset: NCIthesaurus
comment: Xref MGI.
from article: true
from NCBI book: true

optic nerve disease
type: Class
subclass of: cranial nerve disease
definition: A cranial nerve disease that is located_in the optic nerve.
imported from: doid.owl
database_cross_reference: CSP2005:2042-6601
database_cross_reference: MESH:D009901
database_cross_reference: NCI:C79698
database_cross_reference: SNOMEDCT_US_2018_03_01:77157004
database_cross_reference: UMLS_CUI:C0029132
alternative_term: disorder of the second nerve
alternative_term: optic nerve disorder
alternative_term: optic neuropathy
has_obo_namespace: disease_ontology
id: DOID:1891
in subset: NCIthesaurus

Klinefelter's syndrome
type: Class
subclass of: chromosomal anomaly
imported from: doid.owl
database_cross_reference: CSP2005:1254-8437
database_cross_reference: GARD:8705
database_cross_reference: ICD10CM:Q98.0
database_cross_reference: ICD10CM:Q98.4
database_cross_reference: ICD9CM:758.7
database_cross_reference: MESH:D007713
database_cross_reference: MTHICD9_2006:758.7
database_cross_reference: NCI2004_11_17:C34752
database_cross_reference: NCI:C34752
database_cross_reference: SNOMEDCT_US_2018_03_01:22053006
database_cross_reference: UMLS_CUI:C0022735
has definition: 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.
alternative_term: Hypogonadotropic Hypogonadism
alternative_term: Klinefelter syndrome
alternative_term: XXY syndrome
alternative_term: XXY trisomy
alternative_term: kleinfelters syndrome (xxy)
has_obo_namespace: disease_ontology
id: DOID:1921
in subset: NCIthesaurus
comment: No OMIM mapping, confirmed by DO. [LS].
from ILAE: true

Axiom
annotated source: Klinefelter's syndrome
annotated property: hasDefinition
annotated target: 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.

Gaucher's disease
type: Class
subclass of: sphingolipidosis
definition: 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.
imported from: doid.owl
database_cross_reference: GARD:8233
database_cross_reference: ICD10CM:E75.22
database_cross_reference: MESH:D005776
database_cross_reference: NCI:C61268
database_cross_reference: ORDO:355
database_cross_reference: SNOMEDCT_US_2018_03_01:2859005
database_cross_reference: SNOMEDCT_US_2018_03_01:62201009
database_cross_reference: UMLS_CUI:C0017205
alternative_term: Gaucher disease
alternative_term: acid beta-glucosidase deficiency
alternative_term: glocucerebrosidase deficiency
alternative_term: glucosylceramide beta-glucosidase deficiency
alternative_term: kerasin thesaurismosis
has_obo_namespace: disease_ontology
id: DOID:1926
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
from article: true

sphingolipidosis
type: Class
subclass of: lipid storage disease
definition: A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates.
imported from: doid.owl
database_cross_reference: GARD:7672
database_cross_reference: ICD10CM:E75.3
database_cross_reference: MESH:D013106
database_cross_reference: NCI:C117254
database_cross_reference: SNOMEDCT_US_2018_03_01:58459009
database_cross_reference: UMLS_CUI:C0037899
alternative_term: Sphingolipidosis
alternative_term: sphingolipidoses
has_obo_namespace: disease_ontology
id: DOID:1927
in subset: NCIthesaurus

Angelman syndrome
type: Class
subclass of: chromosomal anomaly
definition: A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance.
imported from: doid.owl
database_cross_reference: CSP2005:4008-0043
database_cross_reference: GARD:5810
database_cross_reference: ICD10CM:Q93.5
database_cross_reference: MESH:D017204
database_cross_reference: NCI:C75462
database_cross_reference: OMIM:105830
database_cross_reference: SNOMEDCT_US_2018_03_01:76880004
database_cross_reference: UMLS_CUI:C0162635
has definition: 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.
alternative_term: happy puppet syndrome
alternative_term: puppetlike syndrome
has_obo_namespace: disease_ontology
id: DOID:1932
in subset: DO FlyBase slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].
from ILAE: true

Axiom
annotated source: Angelman syndrome
annotated property: hasDefinition
annotated target: 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.

cerebral palsy
type: Class
subclass of: brain disease
definition: 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.
imported from: doid.owl
has_alternative_id: DOID:1968
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/32149989
database_cross_reference: ICD10CM:G80
database_cross_reference: ICD10CM:G80.9
database_cross_reference: MESH:D002547
database_cross_reference: NCI:C34460
database_cross_reference: SNOMEDCT_US_2018_03_01:1178005
database_cross_reference: UMLS_CUI:C0007789
alternative_term: infantile cerebral palsy
has_obo_namespace: disease_ontology
id: DOID:1969
in subset: DO FlyBase slim
in subset: NCIthesaurus
from pub med: true

anxiety disorder
type: Class
subclass of: cognitive disorder
definition: A cognitive disorder that involves an excessive, irrational dread of everyday situations.
imported from: doid.owl
has_alternative_id: DOID:12884
database_cross_reference: ICD10CM:F41.9
database_cross_reference: MESH:D001008
database_cross_reference: NCI:C2878
database_cross_reference: OMIM:607834
database_cross_reference: SNOMEDCT_US_2018_03_01:65673007
database_cross_reference: UMLS_CUI:C0003469
alternative_term: anxiety
alternative_term: anxiety state
has_obo_namespace: disease_ontology
id: DOID:2030
in subset: NCIthesaurus

communication disorder
type: Class
subclass of: specific developmental disorder
definition: A specific developmental disorder that involves specific developmental disorders of speech and language.
imported from: doid.owl
database_cross_reference: ICD10CM:F80.9
database_cross_reference: MESH:D003147
database_cross_reference: NCI:C2958
database_cross_reference: SNOMEDCT_US_2018_03_01:74825008
database_cross_reference: UMLS_CUI:C0009460
has_obo_namespace: disease_ontology
id: DOID:2033
in subset: NCIthesaurus

focal epilepsy
type: Class
subclass of: epilepsy classification
subclass of: Restriction
  some values from: epilepsy
definition: 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.
imported from: doid.owl
database_cross_reference: MESH:D004828
database_cross_reference: NCI:C122812
database_cross_reference: SNOMEDCT_US_2018_03_01:29753000
database_cross_reference: SNOMEDCT_US_2018_03_01:67139004
database_cross_reference: UMLS_CUI:C0014547
has definition: 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.
alternative_term: localisation-related epilepsy
alternative_term: partial epilepsy
alternative_term: single focal epilepsy
has_obo_namespace: disease_ontology
id: DOID:2234
in subset: NCIthesaurus
from ILAE: true

Axiom
annotated source: focal epilepsy
annotated property: hasDefinition
annotated target: 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.

transient cerebral ischemia
type: Class
subclass of: brain ischemia
definition: A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.
imported from: doid.owl
has_alternative_id: DOID:2315
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/18777476
database_cross_reference: ICD10CM:G45.9
database_cross_reference: MESH:D002546
database_cross_reference: NCI:C50781
database_cross_reference: SNOMEDCT_US_2018_03_01:38609002
database_cross_reference: UMLS_CUI:C0007787
alternative_term: TIA
alternative_term: TIA - Transient ischaemic attack
alternative_term: TRANSIENT ISCHEMIC ATTACK
alternative_term: Transient cerebral ischaemia
alternative_term: Transient cerebral ischemia
alternative_term: Transient ischemic attacks
alternative_term: transient ischemic attack
has_obo_namespace: disease_ontology
id: DOID:224
in subset: NCIthesaurus
from pub med: true

syndrome
type: Class
subclass of: disease
definition: A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality.
imported from: doid.owl
database_cross_reference: MESH:D013577
database_cross_reference: NCI:C28193
database_cross_reference: SNOMEDCT_US_2018_03_01:64572001
database_cross_reference: UMLS_CUI:C0039082
has_obo_namespace: disease_ontology
id: DOID:225
in subset: DO AGR slim
in subset: DO GXD slim
in subset: DO MGI slim
in subset: NCIthesaurus

brain ischemia
type: Class
subclass of: ischemia
subclass of: cerebrovascular disease
definition: An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/9532709
database_cross_reference: MESH:D002545
database_cross_reference: SNOMEDCT_US_2018_03_01:11890005
database_cross_reference: UMLS_CUI:C0007786
alternative_term: Ischaemic encephalopathy
alternative_term: Ischemic encephalopathy
alternative_term: cerebral ischemia
alternative_term: ischemic brain disease
has_obo_namespace: disease_ontology
id: DOID:2316
from pub med: true

multiple sclerosis
type: Class
subclass of: autoimmune disease of central nervous system
subclass of: demyelinating disease
definition: 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.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30562654
database_cross_reference: CSP2005:2042-2324
database_cross_reference: EFO:0003885
database_cross_reference: GARD:10255
database_cross_reference: ICD10CM:G35
database_cross_reference: ICD9CM:340
database_cross_reference: MESH:D009103
database_cross_reference: NCI:C3243
database_cross_reference: OMIM:612594
database_cross_reference: OMIM:612595
database_cross_reference: OMIM:612596
database_cross_reference: SNOMEDCT_US_2018_03_01:24700007
database_cross_reference: UMLS_CUI:C0026769
alternative_term: Generalized multiple sclerosis
alternative_term: insular sclerosis
has_obo_namespace: disease_ontology
id: DOID:2377
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].
from pub med: true

gangliocytoma
type: Class
subclass of: central nervous system benign neoplasm
definition: A central nervous system benign neoplasm that has_material_basis_in mature neurons, and is classified by the absence of neoplastic glial cells.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/21741275
database_cross_reference: GARD:10638
database_cross_reference: MESH:D005729
database_cross_reference: NCI:C6934
database_cross_reference: SNOMEDCT_US_2018_03_01:53801007
has_obo_namespace: disease_ontology
id: DOID:2426
in subset: NCIthesaurus
from pub med: true

psychotic disorder
type: Class
subclass of: cognitive disorder
definition: A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality.
imported from: doid.owl
database_cross_reference: EFO:0000677
database_cross_reference: ICD9CM:298.8
database_cross_reference: UMLS_CUI:C0029516
alternative_term: mental or behavioural disorder
has_obo_namespace: disease_ontology
id: DOID:2468

congenital nervous system abnormality
type: Class
subclass of: physical disorder
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/15347872
database_cross_reference: ICD9CM:742
database_cross_reference: UMLS_CUI:C0158538
alternative_term: Congenital Neurological Deficit
alternative_term: congenital neurologic anomaly
has_obo_namespace: disease_ontology
id: DOID:2490
from pub med: true

Landau-Kleffner syndrome
type: Class
subclass of: childhood-onset epilepsy syndrome
imported from: doid.owl
database_cross_reference: GARD:6855
database_cross_reference: ICD10CM:G40.8
database_cross_reference: MESH:D018887
database_cross_reference: NCI:C84806
database_cross_reference: OMIM:245570
database_cross_reference: ORDO:98818
database_cross_reference: UMLS_CUI:C0282512
has definition: 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.
alternative_term: acquired epileptic aphasia
has_obo_namespace: disease_ontology
id: DOID:2538
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].
from ILAE: true

Axiom
annotated source: Landau-Kleffner syndrome
annotated property: hasDefinition
annotated target: 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.

reflex epilepsy
type: Class
subclass of: variable age onset epilepsy
definition: 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.
imported from: doid.owl
database_cross_reference: MESH:D020195
database_cross_reference: MTHICD9_2006:345.5
database_cross_reference: NCI:C85041
database_cross_reference: SNOMEDCT_US_2018_03_01:79745005
database_cross_reference: UMLS_CUI:C0270857
has definition: 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.
alternative_term: epilepsy, sensory-induced
has_obo_namespace: disease_ontology
id: DOID:2548
in subset: NCIthesaurus
from EPILONT: true
from ESSO: true
from ILAE: true

Axiom
annotated source: reflex epilepsy
annotated property: hasDefinition
annotated target: 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.

hemangioma
type: Class
subclass of: cell type benign neoplasm
subclass of: cardiovascular organ benign neoplasm
definition: 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.
imported from: doid.owl
database_cross_reference: ICD10CM:D18.0
database_cross_reference: ICD10CM:D18.00
database_cross_reference: ICD9CM:228.0
database_cross_reference: ICD9CM:228.00
database_cross_reference: MESH:D006391
database_cross_reference: NCI:C3085
database_cross_reference: SNOMEDCT_US_2018_03_01:2099007
database_cross_reference: SNOMEDCT_US_2018_03_01:93474003
database_cross_reference: UMLS_CUI:C0018916
has_obo_namespace: disease_ontology
id: DOID:255
in subset: NCIthesaurus

pancreas disease
type: Class
subclass of: endocrine system disease
definition: An endocrine system disease that is located_in the pancreas.
imported from: doid.owl
database_cross_reference: ICD10CM:K86.8
database_cross_reference: ICD10CM:K86.89
database_cross_reference: ICD9CM:577.8
database_cross_reference: UMLS_CUI:C0029771
has_obo_namespace: disease_ontology
id: DOID:26

endocrine system disease
type: Class
subclass of: disease of anatomical entity
definition: 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.
imported from: doid.owl
database_cross_reference: ICD10CM:E34.9
database_cross_reference: ICD9CM:259.9
database_cross_reference: MESH:D004700
database_cross_reference: NCI:C3009
database_cross_reference: SNOMEDCT_US_2018_03_01:67432001
database_cross_reference: UMLS_CUI:C0014130
has_obo_namespace: disease_ontology
id: DOID:28
in subset: DO AGR slim
in subset: DO GXD slim
in subset: DO MGI slim
in subset: NCIthesaurus

asthma
type: Class
subclass of: bronchial disease
definition: 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.
imported from: doid.owl
has_alternative_id: DOID:12703
has_alternative_id: DOID:13829
has_alternative_id: DOID:13830
has_alternative_id: DOID:2840
has_alternative_id: DOID:5783
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK1169/
database_cross_reference: EFO:0000270
database_cross_reference: GARD:10246
database_cross_reference: ICD10CM:J45
database_cross_reference: ICD10CM:J45.90
database_cross_reference: ICD10CM:J45.909
database_cross_reference: ICD9CM:493
database_cross_reference: ICD9CM:493.9
database_cross_reference: KEGG:05310
database_cross_reference: MESH:D001249
database_cross_reference: NCI:C28397
database_cross_reference: SNOMEDCT_US_2018_03_01:21341004
database_cross_reference: UMLS_CUI:C0004096
alternative_term: Exercise induced asthma
alternative_term: bronchial hyperreactivity
alternative_term: chronic obstructive asthma
alternative_term: chronic obstructive asthma with acute exacerbation
alternative_term: chronic obstructive asthma with status asthmaticus
alternative_term: exercise-induced asthma
has_obo_namespace: disease_ontology
id: DOID:2841
in subset: NCIthesaurus
comment: Xref MGI.
from NCBI book: true

long QT syndrome
type: Class
subclass of: Syncope
definition: 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).
imported from: doid.owl
has_alternative_id: DOID:4069
database_cross_reference: CSP2005:4009-0053
database_cross_reference: GARD:6922
database_cross_reference: ICD10CM:I45.81
database_cross_reference: ICD9CM:426.82
database_cross_reference: MESH:D008133
database_cross_reference: MESH:D029597
database_cross_reference: NCI:C34786
database_cross_reference: NCI:C85049
database_cross_reference: OMIM:PS192500
database_cross_reference: ORDO:101016
database_cross_reference: ORDO:768
database_cross_reference: SNOMEDCT_US_2018_03_01:20852007
database_cross_reference: SNOMEDCT_US_2018_03_01:9651007
database_cross_reference: UMLS_CUI:C0023976
database_cross_reference: UMLS_CUI:C0035828
alternative_term: LQT
alternative_term: Romano-Ward syndrome
alternative_term: long Q-T syndrome
has_obo_namespace: disease_ontology
id: DOID:2843
in subset: DO FlyBase slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].
from article: true
from ILAE: true

bruxism
type: Class
subclass of: sleep disturbance
definition: A sleep disorder that involves involuntarily grinding or clenching of the teeth while sleeping.
imported from: doid.owl
has_alternative_id: DOID:8891
database_cross_reference: ICD10CM:F45.8
database_cross_reference: ICD10CM:G47.63
database_cross_reference: ICD9CM:327.53
database_cross_reference: MESH:D002012
database_cross_reference: MESH:D020186
database_cross_reference: MTHICD9_2006:306.8
database_cross_reference: NCI:C73511
database_cross_reference: SNOMEDCT_US_2018_03_01:90207007
database_cross_reference: UMLS_CUI:C0006325
database_cross_reference: UMLS_CUI:C0393774
alternative_term: Bruxism - teeth grinding
alternative_term: Grinding teeth
alternative_term: Teeth grinding
alternative_term: sleep related bruxism
has_obo_namespace: disease_ontology
id: DOID:2846
in subset: NCIthesaurus
from article: true
from ESSO: true

immune system disease
type: Class
subclass of: disease of anatomical entity
definition: A disease of anatomical entity that is located_in the immune system.
imported from: doid.owl
database_cross_reference: EFO:0000540
database_cross_reference: ICD10CM:D89.9
database_cross_reference: ICD9CM:279
database_cross_reference: ICD9CM:279.9
database_cross_reference: UMLS_CUI:C0041806
has_obo_namespace: disease_ontology
id: DOID:2914
in subset: DO AGR slim
in subset: DO FlyBase slim
in subset: DO GXD slim
in subset: DO MGI slim

hypersensitivity reaction type IV disease
type: Class
subclass of: hypersensitivity reaction disease
definition: 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.
imported from: doid.owl
database_cross_reference: ICD10CM:C88.9
database_cross_reference: MESH:D007160
database_cross_reference: SNOMEDCT_US_2018_03_01:86295000
database_cross_reference: UMLS_CUI:C0021070
has_obo_namespace: disease_ontology
has_related_synonym: immunoproliferative disease
id: DOID:2916

carbohydrate metabolic disorder
type: Class
subclass of: inherited metabolic disorder
definition: An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates.
imported from: doid.owl
has_alternative_id: DOID:9434
database_cross_reference: CSP2005:0551-8201
database_cross_reference: MESH:D002239
database_cross_reference: UMLS_CUI:C0007001
alternative_term: disorder of carbohydrate transport and metabolism
alternative_term: inborn carbohydrate metabolism disorder
alternative_term: inborn errors of carbohydrate metabolism
has_obo_namespace: disease_ontology
id: DOID:2978

substance abuse
type: Class
subclass of: substance-related disorder
definition: A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning.
imported from: doid.owl
database_cross_reference: MESH:D019966
database_cross_reference: NCI:C16522
database_cross_reference: SNOMEDCT_US_2018_03_01:26416006
database_cross_reference: UMLS_CUI:C0013146
has_obo_namespace: disease_ontology
has_related_synonym: drug abuse
id: DOID:302
in subset: NCIthesaurus
from article: true

substance-related disorder
type: Class
subclass of: disease of mental health
subclass of: mental disorder
definition: 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.
imported from: doid.owl
database_cross_reference: MESH:D019966
database_cross_reference: NCI:C92203
database_cross_reference: UMLS_CUI:C0236969
has_obo_namespace: disease_ontology
id: DOID:303
in subset: NCIthesaurus

glioblastoma multiforme
type: Class
subclass of: astrocytoma
definition: 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.
imported from: doid.owl
has_alternative_id: DOID:3075
has_alternative_id: DOID:3080
database_cross_reference: CSP2005:2012-6410
database_cross_reference: GARD:2491
database_cross_reference: MESH:D005909
database_cross_reference: NCI2004_11_17:C3058
database_cross_reference: NCI2004_11_17:C9094
database_cross_reference: NCI:C129295
database_cross_reference: NCI:C3058
database_cross_reference: NCI:C39750
database_cross_reference: NCI:C9094
database_cross_reference: SNOMEDCT_US_2018_03_01:63634009
database_cross_reference: UMLS_CUI:C0017636
database_cross_reference: UMLS_CUI:C0278878
database_cross_reference: UMLS_CUI:C1514422
alternative_term: GBM
alternative_term: adult glioblastoma multiforme
alternative_term: grade IV adult Astrocytic tumor
alternative_term: primary glioblastoma multiforme
alternative_term: spongioblastoma multiforme
has_obo_namespace: disease_ontology
id: DOID:3068
in subset: DO cancer slim
in subset: NCIthesaurus

astrocytoma
type: Class
subclass of: malignant glioma
definition: 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.
imported from: doid.owl
has_alternative_id: DOID:4861
database_cross_reference: CSP2005:2012-6768
database_cross_reference: ICDO:M9400/3
database_cross_reference: MESH:D001254
database_cross_reference: NCI:C4951
database_cross_reference: NCI:C60781
database_cross_reference: NCI:C6958
database_cross_reference: SNOMEDCT_US_2018_03_01:38713004
database_cross_reference: UMLS_CUI:C0004114
database_cross_reference: UMLS_CUI:C0750935
alternative_term: Astrocytic tumor
alternative_term: Astrocytoma, NOS
alternative_term: astrocytoma of Cerebrum
alternative_term: astrocytoma of brain
alternative_term: astroglioma
alternative_term: cerebral astrocytoma
has_obo_namespace: disease_ontology
id: DOID:3069
in subset: NCIthesaurus

early myoclonic encephalopathy
type: Class
subclass of: neonatal/infantile epilepsy syndrome
imported from: doid.owl
database_cross_reference: CSP2005:0485-7984
database_cross_reference: MESH:D004831
database_cross_reference: MTHICD9_2006:345.1
database_cross_reference: UMLS_CUI:C0014550
has definition: Early myoclonic encephalopathy is a syndrome characterized by frequent intractable seizures and severe early encephalopathy resulting in limited development and reduced life expectancy.
alternative_term: Epileptic seizures - myoclonic
alternative_term: Epileptic seizures, myoclonic
alternative_term: Myoclonic seizure
alternative_term: Myoclonic seizure disorder
alternative_term: myoclonia epileptica
alternative_term: myoclonic epilepsy
has_obo_namespace: disease_ontology
id: DOID:308
from EPILONT: true
from ESSO: true
from ILAE: true

Axiom
annotated source: early myoclonic encephalopathy
annotated property: hasDefinition
annotated target: Early myoclonic encephalopathy is a syndrome characterized by frequent intractable seizures and severe early encephalopathy resulting in limited development and reduced life expectancy.

MERRF syndrome
type: Class
subclass of: mitochondrial disease
imported from: doid.owl
database_cross_reference: ICD10CM:E88.42
database_cross_reference: MESH:D017243
database_cross_reference: MTHICD9_2006:277.87
database_cross_reference: NCI:C84889
database_cross_reference: OMIM:545000
database_cross_reference: SNOMEDCT_US_2018_03_01:57254004
database_cross_reference: SNOMEDCT_US_2018_03_01:68448003
database_cross_reference: UMLS_CUI:C0162672
has definition: 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.
alternative_term: Fukuhara syndrome
alternative_term: Myoclonic epilepsy - ragged red fibers
alternative_term: Myoclonic epilepsy with ragged red fibres
alternative_term: Myoclonus epilepsy AND ragged red fibers
alternative_term: Myoclonus with epilepsy and with Ragged Red Fibers
has_obo_namespace: disease_ontology
id: DOID:310
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].
from ILAE: true

Axiom
annotated source: MERRF syndrome
annotated property: hasDefinition
annotated target: 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.

hepatobiliary disease
type: Class
subclass of: gastrointestinal system disease
definition: A gastrointestinal system disease that is located_in the liver and/or biliary tract.
imported from: doid.owl
database_cross_reference: NCI:C3959
database_cross_reference: UMLS_CUI:C0267792
alternative_term: liver and biliary tract disease
has_obo_namespace: disease_ontology
id: DOID:3118
in subset: NCIthesaurus

acute porphyria
type: Class
subclass of: porphyria
definition: A porphyria that has_symptom abdominal pain, has_symptom neuropathy, has_symptom autonomic instability and has_symptom psychosis.
imported from: doid.owl
database_cross_reference: MESH:D017094
database_cross_reference: OMIM:612740
database_cross_reference: ORDO:100924
database_cross_reference: SNOMEDCT_US_2018_03_01:55056006
database_cross_reference: UMLS_CUI:C0162533
alternative_term: hepatic porphyria
has_obo_namespace: disease_ontology
id: DOID:3133
in subset: DO rare slim
comment: Xref MGI.
from article: true

oligodendroglioma
type: Class
subclass of: malignant glioma
imported from: doid.owl
has_alternative_id: DOID:3182
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26478444
database_cross_reference: GARD:9953
database_cross_reference: MESH:D009837
database_cross_reference: NCI2004_11_17:C6960
database_cross_reference: NCI:C129319
database_cross_reference: NCI:C6960
database_cross_reference: SNOMEDCT_US_2018_03_01:73348003
database_cross_reference: UMLS_CUI:C0028945
database_cross_reference: UMLS_CUI:C1335110
has definition: 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).
alternative_term: oligodendroglial neoplasm
alternative_term: oligodendroglial tumor
has_obo_namespace: disease_ontology
id: DOID:3181
in subset: NCIthesaurus
from pub med: true

Axiom
annotated source: oligodendroglioma
annotated property: hasDefinition
annotated target: 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).

spinal cord disease
type: Class
subclass of: central nervous system disease
imported from: doid.owl
database_cross_reference: ICD10CM:G95.9
database_cross_reference: ICD9CM:336.9
database_cross_reference: MESH:D013118
database_cross_reference: NCI:C97110
database_cross_reference: SNOMEDCT_US_2018_03_01:48522003
database_cross_reference: SNOMEDCT_US_2018_03_01:95648003
database_cross_reference: UMLS_CUI:C0037928
has_obo_namespace: disease_ontology
has_related_synonym: myelopathy
id: DOID:319
in subset: NCIthesaurus

lysosomal storage disease
type: Class
subclass of: inherited metabolic disorder
definition: An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.
imported from: doid.owl
database_cross_reference: CSP2005:1849-5878
database_cross_reference: MESH:D016464
database_cross_reference: NCI:C61250
database_cross_reference: SNOMEDCT_US_2018_03_01:23585005
database_cross_reference: UMLS_CUI:C0085078
alternative_term: disorder of lysosomal enzyme
alternative_term: inborn lysosomal enzyme disorder
alternative_term: lysosomal storage metabolism disorder
has_obo_namespace: disease_ontology
id: DOID:3211
in subset: DO FlyBase slim
in subset: NCIthesaurus

demyelinating disease
type: Class
subclass of: neurodegenerative disease
definition: A neurodegenerative disease that is characterized by damage to the myelin sheath present around nerve axons.
imported from: doid.owl
database_cross_reference: MESH:D003711
database_cross_reference: NCI2004_11_17:C34527
database_cross_reference: NCI:C34527
database_cross_reference: UMLS_CUI:C0011303
alternative_term: demyelinating disorder
has_obo_namespace: disease_ontology
id: DOID:3213
in subset: NCIthesaurus

ischemia
type: Class
subclass of: vascular disease
definition: A vascular disease that is characterized by a restriction in blood supply to tissues.
imported from: doid.owl
database_cross_reference: MESH:D007511
database_cross_reference: NCI:C34738
database_cross_reference: SNOMEDCT_US_2018_03_01:52674009
database_cross_reference: UMLS_CUI:C0022116
has_obo_namespace: disease_ontology
id: DOID:326
in subset: NCIthesaurus

central nervous system disease
type: Class
subclass of: nervous system disease
definition: A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system.
imported from: doid.owl
database_cross_reference: ICD10CM:G96.9
database_cross_reference: MESH:D002493
database_cross_reference: NCI:C2934
database_cross_reference: SNOMEDCT_US_2018_03_01:23853001
database_cross_reference: UMLS_CUI:C0007682
has_obo_namespace: disease_ontology
id: DOID:331
in subset: DO AGR slim
in subset: DO GXD slim
in subset: NCIthesaurus

bipolar disorder
type: Class
subclass of: mood disorder
definition: A mood disorder that involves alternating periods of mania and depression.
imported from: doid.owl
has_alternative_id: DOID:3311
has_alternative_id: DOID:9554
has_alternative_id: DOID:9555
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/31552392
database_cross_reference: CSP2005:2483-6684
database_cross_reference: CSP2005:2483-6691
database_cross_reference: EFO:0000289
database_cross_reference: ICD10CM:F31
database_cross_reference: ICD10CM:F31.9
database_cross_reference: ICD9CM:296.40
database_cross_reference: ICD9CM:296.60
database_cross_reference: ICD9CM:296.80
database_cross_reference: MESH:D001714
database_cross_reference: NCI2004_11_17:C34423
database_cross_reference: NCI2004_11_17:C34805
database_cross_reference: NCI:C34423
database_cross_reference: NCI:C34424
database_cross_reference: NCI:C34805
database_cross_reference: SNOMEDCT_US_2018_03_01:13746004
database_cross_reference: SNOMEDCT_US_2018_03_01:16506000
database_cross_reference: SNOMEDCT_US_2018_03_01:68569003
database_cross_reference: UMLS_CUI:C0005586
database_cross_reference: UMLS_CUI:C0005587
database_cross_reference: UMLS_CUI:C0024713
database_cross_reference: UMLS_CUI:C0236780
alternative_term: Manic Bipolar Affective disorder
alternative_term: Manic Depressive disorder
alternative_term: Manic bipolar I disorder
alternative_term: bipolar depression
alternative_term: bipolar disorder manic phase
alternative_term: manic depression
alternative_term: manic disorder
alternative_term: mixed bipolar disorder
has_obo_namespace: disease_ontology
has_related_synonym: Depressive-manic psych.
id: DOID:3312
in subset: NCIthesaurus
from pub med: true

mood disorder
type: Class
subclass of: cognitive disorder
definition: A cognitive disorder that involves a disturbance in mood as the predominant underlying feature.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/18472483
database_cross_reference: EFO:0004247
database_cross_reference: ICD10CM:F30-F39
database_cross_reference: ICD10CM:F39
database_cross_reference: MESH:D019964
database_cross_reference: NCI:C92200
database_cross_reference: SNOMEDCT_US_2018_03_01:46206005
database_cross_reference: SNOMEDCT_US_2018_03_01:74421008
database_cross_reference: UMLS_CUI:C0525045
alternative_term: episodic mood disorder
has_obo_namespace: disease_ontology
id: DOID:3324
in subset: NCIthesaurus
comment: Updating outdated UMLS CUI.
from pub med: true

temporal lobe epilepsy
type: Class
subclass of: epilepsy
imported from: doid.owl
database_cross_reference: MESH:D004833
database_cross_reference: MTHICD9_2006:345.4
database_cross_reference: SNOMEDCT_US_2018_03_01:84340007
database_cross_reference: UMLS_CUI:C0014556
has definition: 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).
alternative_term: epilepsy, temporal lobe
has_obo_namespace: disease_ontology
id: DOID:3328
from ESSO: true

Axiom
annotated source: temporal lobe epilepsy
annotated property: hasDefinition
annotated target: 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).

benign epilepsy with centrotemporal spikes
type: Class
subclass of: childhood-onset epilepsy syndrome
imported from: doid.owl
database_cross_reference: MESH:D019305
database_cross_reference: OMIM:117100
database_cross_reference: UMLS_CUI:C0376532
has definition: 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.
alternative_term: BCECTS
alternative_term: BenignChildhoodEpilepsyWithCentrotemporalSpikes
alternative_term: benign Rolandic epilepsy
alternative_term: benign childhood epilepsy with centrotemporal spike
alternative_term: rolandic epilepsy
alternative_term: sylvan seizures
has_obo_namespace: disease_ontology
id: DOID:3329

Axiom
annotated source: benign epilepsy with centrotemporal spikes
annotated property: hasDefinition
annotated target: 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.

frontal lobe epilepsy
type: Class
subclass of: epilepsy
imported from: doid.owl
database_cross_reference: MESH:D017034
database_cross_reference: UMLS_CUI:C0085541
has definition: 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).
alternative_term: Frontal lobe epilepsy
has_obo_namespace: disease_ontology
id: DOID:3331
from ESSO: true

Axiom
annotated source: frontal lobe epilepsy
annotated property: hasDefinition
annotated target: 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).

bone inflammation disease
type: Class
subclass of: bone disease
definition: A bone disease that results_in inflammation of the located_in bone.
imported from: doid.owl
database_cross_reference: CSP2005:2715-2703
database_cross_reference: MESH:D010000
database_cross_reference: SNOMEDCT_US_2018_03_01:44462005
database_cross_reference: UMLS_CUI:C0029400
alternative_term: Inflammatory disorder of bone
alternative_term: bone inflammatory disease
alternative_term: osteitis
has_obo_namespace: disease_ontology
id: DOID:3342

coronary artery disease
type: Class
subclass of: artery disease
definition: 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.
imported from: doid.owl
has_alternative_id: DOID:10506
has_alternative_id: DOID:3363
has_alternative_id: DOID:3394
has_alternative_id: DOID:9420
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/32014726
database_cross_reference: CSP2005:1393-3397
database_cross_reference: EFO:0001645
database_cross_reference: ICD10CM:I20-I25
database_cross_reference: ICD10CM:I25
database_cross_reference: ICD10CM:I25.1
database_cross_reference: ICD10CM:I25.10
database_cross_reference: ICD10CM:I25.9
database_cross_reference: ICD10CM:K76.1
database_cross_reference: ICD9CM:410-414.99
database_cross_reference: ICD9CM:414.0
database_cross_reference: ICD9CM:414.9
database_cross_reference: MESH:D003324
database_cross_reference: MESH:D003327
database_cross_reference: MESH:D017202
database_cross_reference: NCI2004_11_17:C26732
database_cross_reference: NCI:C35505
database_cross_reference: NCI:C50625
database_cross_reference: OMIM:300464
database_cross_reference: OMIM:607339
database_cross_reference: OMIM:608316
database_cross_reference: OMIM:608318
database_cross_reference: OMIM:608320
database_cross_reference: OMIM:610947
database_cross_reference: OMIM:611139
database_cross_reference: OMIM:612030
database_cross_reference: OMIM:614293
database_cross_reference: SNOMEDCT_US_2018_03_01:2610009
database_cross_reference: SNOMEDCT_US_2018_03_01:32598000
database_cross_reference: SNOMEDCT_US_2018_03_01:41702007
database_cross_reference: SNOMEDCT_US_2018_03_01:53741008
database_cross_reference: SNOMEDCT_US_2018_03_01:84537008
database_cross_reference: UMLS_CUI:C0010054
database_cross_reference: UMLS_CUI:C0010068
database_cross_reference: UMLS_CUI:C0151744
database_cross_reference: UMLS_CUI:C0264694
alternative_term: CHD
alternative_term: Coronary disease
alternative_term: coronary arteriosclerosis
alternative_term: coronary heart disease
has_obo_namespace: disease_ontology
id: DOID:3393
in subset: NCIthesaurus
comment: Xref MGI.
from pub med: true

brain infarction
type: Class
subclass of: cerebrovascular disease
definition: A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain.
imported from: doid.owl
database_cross_reference: MESH:D020520
database_cross_reference: UMLS_CUI:C0751955
has_obo_namespace: disease_ontology
id: DOID:3454

cellulitis
type: Class
subclass of: skin disease
subclass of: connective tissue disease
definition: 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.
imported from: doid.owl
has_alternative_id: DOID:2472
database_cross_reference: ICD10CM:L03.90
database_cross_reference: MESH:D002481
database_cross_reference: NCI:C26715
database_cross_reference: NCI:C34454
database_cross_reference: SNOMEDCT_US_2018_03_01:62837005
database_cross_reference: SNOMEDCT_US_2018_03_01:74276003
database_cross_reference: UMLS_CUI:C0007642
database_cross_reference: UMLS_CUI:C0007646
has_obo_namespace: disease_ontology
id: DOID:3488
in subset: NCIthesaurus

cerebral infarction
type: Class
subclass of: brain infarction
definition: 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.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30022372
database_cross_reference: ICD10CM:I63
database_cross_reference: ICD10CM:I63.9
database_cross_reference: MESH:D002544
database_cross_reference: NCI:C50486
database_cross_reference: OMIM:601367
database_cross_reference: SNOMEDCT_US_2018_03_01:20059004
database_cross_reference: UMLS_CUI:C0007785
alternative_term: CVA - Cerebral infarction
alternative_term: Cerebral infarct
alternative_term: Cerebral infarction
has_obo_namespace: disease_ontology
id: DOID:3526
in subset: NCIthesaurus
from pub med: true

meningioma
type: Class
subclass of: central nervous system cancer
definition: 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.
imported from: doid.owl
has_alternative_id: DOID:1137
has_alternative_id: DOID:3554
has_alternative_id: DOID:3567
has_alternative_id: DOID:4750
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/31604333
database_cross_reference: GARD:7015
database_cross_reference: ICD10CM:D32.9
database_cross_reference: ICDO:M9530/3
database_cross_reference: MESH:D008577
database_cross_reference: MESH:D008579
database_cross_reference: NCI:C3229
database_cross_reference: NCI:C3230
database_cross_reference: NCI:C4656
database_cross_reference: NCI:C6971
database_cross_reference: NCI:C7048
database_cross_reference: UMLS_CUI:C0025284
database_cross_reference: UMLS_CUI:C0025286
database_cross_reference: UMLS_CUI:C0349604
database_cross_reference: UMLS_CUI:C1334698
database_cross_reference: UMLS_CUI:C1336537
alternative_term: intracranial meningioma
alternative_term: meningeal neoplasm
alternative_term: meningothelial cell tumor
alternative_term: neoplasm of the meninges
alternative_term: primary Meningeal tumor
alternative_term: supratentorial meningioma
has_obo_namespace: disease_ontology
id: DOID:3565
in subset: DO cancer slim
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim
from pub med: true

central nervous system cancer
type: Class
subclass of: central nervous system disease
definition: A nervous system cancer that is located_in the central nervous system.
imported from: doid.owl
has_alternative_id: DOID:0060093
has_alternative_id: DOID:1318
database_cross_reference: CSP2005:2012-5421
database_cross_reference: EFO:0000326
database_cross_reference: ICD10CM:C72.9
database_cross_reference: MESH:D016543
database_cross_reference: NCI2004_11_17:C4627
database_cross_reference: NCI2004_11_17:C9293
database_cross_reference: NCI:C4627
database_cross_reference: NCI:C9293
database_cross_reference: SNOMEDCT_US_2018_03_01:93744007
database_cross_reference: UMLS_CUI:C0085136
database_cross_reference: UMLS_CUI:C0348374
alternative_term: CNS neoplasm
alternative_term: central nervous system tumor
alternative_term: central nervous system tumors
alternative_term: malignant neoplasm of central nervous system
alternative_term: malignant tumor of CNS
alternative_term: neoplasm of central nervous system
has_obo_namespace: disease_ontology
id: DOID:3620
in subset: NCIthesaurus

bladder disease
type: Class
subclass of: urinary system disease
definition: A urinary system disease that is located_in the bladder.
imported from: doid.owl
database_cross_reference: ICD10CM:N32.9
database_cross_reference: ICD9CM:596.9
database_cross_reference: MESH:D001745
database_cross_reference: NCI:C2900
database_cross_reference: SNOMEDCT_US_2018_03_01:42643001
database_cross_reference: UMLS_CUI:C0005686
alternative_term: Urinary Bladder Disease
has_obo_namespace: disease_ontology
id: DOID:365
in subset: NCIthesaurus

MELAS syndrome
type: Class
subclass of: mitochondrial disease
definition: 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.
imported from: doid.owl
database_cross_reference: ICD10CM:E88.41
database_cross_reference: MESH:D017241
database_cross_reference: NCI:C84885
database_cross_reference: OMIM:540000
database_cross_reference: SNOMEDCT_US_2018_03_01:39925003
database_cross_reference: UMLS_CUI:C0162671
has definition: 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.
alternative_term: MELAS
alternative_term: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
alternative_term: Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes
has_obo_namespace: disease_ontology
id: DOID:3687
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].
from ILAE: true

Axiom
annotated source: MELAS syndrome
annotated property: hasDefinition
annotated target: 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.

skin disease
type: Class
subclass of: integumentary system disease
definition: An integumentary system disease that is located_in skin.
imported from: doid.owl
has_alternative_id: DOID:1576
has_alternative_id: DOID:1698
has_alternative_id: DOID:187
has_alternative_id: DOID:6486
has_alternative_id: DOID:8948
database_cross_reference: ICD9CM:702
database_cross_reference: MESH:D012871
database_cross_reference: MESH:D012873
database_cross_reference: NCI:C27554
database_cross_reference: NCI:C3371
database_cross_reference: SNOMEDCT_US_2018_03_01:5613003
database_cross_reference: SNOMEDCT_US_2018_03_01:80659006
database_cross_reference: SNOMEDCT_US_2018_03_01:95320005
database_cross_reference: UMLS_CUI:C0029574
database_cross_reference: UMLS_CUI:C0037274
database_cross_reference: UMLS_CUI:C0037277
alternative_term: Genodermatosis
alternative_term: skin and subcutaneous tissue disease
has_obo_namespace: disease_ontology
id: DOID:37
in subset: NCIthesaurus

nutrition disease
type: Class
subclass of: acquired metabolic disease
definition: 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.
imported from: doid.owl
database_cross_reference: MESH:D009748
database_cross_reference: NCI2004_11_17:C26836
database_cross_reference: NCI:C26836
database_cross_reference: SNOMEDCT_US_2018_03_01:2492009
database_cross_reference: UMLS_CUI:C3714509
alternative_term: Nutritional disorder
has_obo_namespace: disease_ontology
id: DOID:374
in subset: NCIthesaurus

tuberculosis
type: Class
subclass of: infectious etiology
definition: 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.
imported from: doid.owl
has_alternative_id: DOID:10096
has_alternative_id: DOID:12688
has_alternative_id: DOID:12691
has_alternative_id: DOID:415
has_alternative_id: DOID:9901
has_alternative_id: DOID:9902
database_cross_reference: GARD:7827
database_cross_reference: MESH:D014375
database_cross_reference: SNOMEDCT_US_2018_03_01:15202009
database_cross_reference: UMLS_CUI:C0041295
has definition: 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.
has_obo_namespace: disease_ontology
id: DOID:399
in subset: gram-positive bacterial infectious disease
from ILAE: true

Axiom
annotated source: tuberculosis
annotated property: hasDefinition
annotated target: 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
type: Class
subclass of: disposition
definition: 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.
imported from: doid.owl
database_cross_reference: MESH:D004194
database_cross_reference: NCI:C2991
database_cross_reference: SNOMEDCT_US_2020_09_01:64572001
database_cross_reference: UMLS_CUI:C0012634
has_obo_namespace: disease_ontology
id: DOID:4
in subset: DO RAD slim
in subset: NCIthesaurus

liver disease
type: Class
subclass of: endocrine system disease
subclass of: hepatobiliary disease
imported from: doid.owl
has_alternative_id: DOID:2164
has_alternative_id: DOID:2165
has_alternative_id: DOID:46
database_cross_reference: ICD10CM:K70-K77
database_cross_reference: ICD10CM:K76.9
database_cross_reference: ICD9CM:573.9
database_cross_reference: MESH:D008107
database_cross_reference: NCI2004_11_17:C3196
database_cross_reference: NCI:C3196
database_cross_reference: SNOMEDCT_US_2018_03_01:62857009
database_cross_reference: UMLS_CUI:C0023895
alternative_term: disorder of liver
alternative_term: hepatic disorder
has_obo_namespace: disease_ontology
id: DOID:409
in subset: NCIthesaurus
from article: true

agnosia
type: Class
subclass of: communication disorder
definition: 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.
imported from: doid.owl
has_alternative_id: DOID:4019
database_cross_reference: GARD:8
database_cross_reference: ICD10CM:R48.1
database_cross_reference: ICD10CM:R48.2
database_cross_reference: MESH:D000377
database_cross_reference: MESH:D001072
database_cross_reference: NCI:C84542
database_cross_reference: SNOMEDCT_US_2018_03_01:42341009
database_cross_reference: SNOMEDCT_US_2018_03_01:68345001
database_cross_reference: SNOMEDCT_US_2018_03_01:6950007
database_cross_reference: UMLS_CUI:C0001816
database_cross_reference: UMLS_CUI:C0003635
alternative_term: Dyspraxia
alternative_term: Dyspraxia syndrome
has_obo_namespace: disease_ontology
id: DOID:4090
in subset: NCIthesaurus

autoimmune hypersensitivity disease
type: Class
subclass of: hypersensitivity reaction disease
definition: 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.
imported from: doid.owl
IEDB alternative term: autoimmune disease
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30562654
database_cross_reference: ICD9CM:720
database_cross_reference: OMIM:109100
database_cross_reference: UMLS_CUI:C0003089
alternative_term: autoimmune disease
alternative_term: hypersensitivity reaction type II disease
has_obo_namespace: disease_ontology
id: DOID:417
comment: Xref MGI.
from ESSO: true
from pub med: true

glucose metabolism disease
type: Class
subclass of: carbohydrate metabolism disease
imported from: doid.owl
database_cross_reference: MESH:D044882
database_cross_reference: NCI:C53655
database_cross_reference: UMLS_CUI:C1257958
alternative_term: disorder of glucose metabolism
has_obo_namespace: disease_ontology
id: DOID:4194
in subset: NCIthesaurus

coronary stenosis
type: Class
subclass of: coronary artery disease
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/21851492
database_cross_reference: MESH:D023921
database_cross_reference: NCI:C80427
database_cross_reference: UMLS_CUI:C0242231
alternative_term: Coronary artery stenosis
has_obo_namespace: disease_ontology
id: DOID:4248
in subset: NCIthesaurus
from pub med: true

myasthenia gravis
type: Class
subclass of: autoimmune disease of the nervous system
definition: 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.
imported from: doid.owl
has_alternative_id: DOID:443
has_alternative_id: DOID:444
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30562654
database_cross_reference: GARD:7122
database_cross_reference: ICD10CM:G70.0
database_cross_reference: ICD10CM:G70.00
database_cross_reference: ICD9CM:358.0
database_cross_reference: ICD9CM:358.00
database_cross_reference: MESH:D009157
database_cross_reference: NCI:C60989
database_cross_reference: OMIM:254200
database_cross_reference: SNOMEDCT_US_2018_03_01:91637004
database_cross_reference: UMLS_CUI:C0026896
database_cross_reference: UMLS_CUI:C1260409
has_obo_namespace: disease_ontology
id: DOID:437
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].
from ESSO: true
from pub med: true

autoimmune disease of the nervous system
type: Class
subclass of: autoimmune hypersensitivity disease
definition: An autoimmune hypersensitivity disease affecting the nervous system.
imported from: doid.owl
database_cross_reference: CSP2005:1560-5548
database_cross_reference: MESH:D020274
database_cross_reference: NCI:C99383
database_cross_reference: UMLS_CUI:C0751871
has_obo_namespace: disease_ontology
has_related_synonym: autoimmune nervous system disorder
id: DOID:438
in subset: NCIthesaurus

dyslexia
type: Class
subclass of: reading disorder
definition: A reading disorder resulting from a developmental reading disability involving the inability to process graphic symbols resulting in impairment of reading ability.
imported from: doid.owl
database_cross_reference: ICD10CM:F81.0
database_cross_reference: MESH:D004410
database_cross_reference: NCI:C96410
database_cross_reference: OMIM:300509
database_cross_reference: OMIM:600202
database_cross_reference: OMIM:604254
database_cross_reference: OMIM:606616
database_cross_reference: OMIM:606896
database_cross_reference: OMIM:608995
database_cross_reference: SNOMEDCT_US_2018_03_01:52824009
database_cross_reference: SNOMEDCT_US_2018_03_01:59770006
database_cross_reference: SNOMEDCT_US_2018_03_01:9236007
database_cross_reference: UMLS_CUI:C0476254
has_obo_namespace: disease_ontology
id: DOID:4428
in subset: NCIthesaurus
comment: Xref MGI.
from article: true

dysgraphia
type: Class
subclass of: writing disorder
definition: 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.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26132164
database_cross_reference: ICD10CM:R48.8
database_cross_reference: MESH:D000381
database_cross_reference: SNOMEDCT_US_2018_03_01:27206009
database_cross_reference: UMLS_CUI:C0001825
has_obo_namespace: disease_ontology
id: DOID:4540
from pub med: true

retrograde amnesia
type: Class
subclass of: amnestic disorder
definition: An amnestic disorder that involves a loss of one's pre-existing memories to conscious recollection.
imported from: doid.owl
database_cross_reference: ICD10CM:R41.2
database_cross_reference: MESH:D000648
database_cross_reference: NCI:C34372
database_cross_reference: SNOMEDCT_US_2018_03_01:51921000
database_cross_reference: UMLS_CUI:C0002624
has_obo_namespace: disease_ontology
id: DOID:4543
in subset: NCIthesaurus
from ESSO: true

brain edema
type: Class
subclass of: brain disease
definition: 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.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/6527775
database_cross_reference: CSP2005:0485-0998
database_cross_reference: MESH:D001929
database_cross_reference: SNOMEDCT_US_2018_03_01:2032001
database_cross_reference: SNOMEDCT_US_2018_03_01:85974009
database_cross_reference: UMLS_CUI:C1527311
alternative_term: intracranial swelling
alternative_term: wet brain
has_obo_namespace: disease_ontology
id: DOID:4724
from pub med: true

somatoform disorder
type: Class
subclass of: disease of mental health
definition: A disease of mental health that involves physical symptoms suggesting a physical illness where the biological or medical cause of the symptoms is indeterminate.
imported from: doid.owl
has_alternative_id: DOID:10133
has_alternative_id: DOID:144
database_cross_reference: CSP2005:2482-7019
database_cross_reference: ICD10CM:F45
database_cross_reference: ICD10CM:F45.0
database_cross_reference: ICD10CM:F45.9
database_cross_reference: ICD9CM:300.8
database_cross_reference: ICD9CM:300.81
database_cross_reference: MESH:D013001
database_cross_reference: NCI:C34956
database_cross_reference: SNOMEDCT_US_2018_03_01:31297008
database_cross_reference: SNOMEDCT_US_2018_03_01:60368009
database_cross_reference: SNOMEDCT_US_2018_03_01:9514005
database_cross_reference: UMLS_CUI:C0037650
database_cross_reference: UMLS_CUI:C0520482
alternative_term: physiological malfunction arising from mental factor
alternative_term: psychophysiologic disorder
alternative_term: psychosomatic disorder
has_obo_namespace: disease_ontology
id: DOID:4737
in subset: NCIthesaurus

movement disease
type: Class
subclass of: brain disease
definition: A brain disease that is characterized by a clinical syndrome of either hyperkinetic movement or hyperkinetic movement unrelated to weakness or spasticity.
imported from: doid.owl
database_cross_reference: MESH:D009069
database_cross_reference: NCI:C116757
database_cross_reference: SNOMEDCT_US_2018_03_01:60342002
database_cross_reference: UMLS_CUI:C0026650
has_obo_namespace: disease_ontology
id: DOID:480
in subset: NCIthesaurus

pilocytic astrocytoma
type: Class
subclass of: malignant glioma
definition: An astrocytoma that is characterized by cells that look like fibers when viewed under a microscope and is located_in the brain.
imported from: doid.owl
database_cross_reference: GARD:9808
database_cross_reference: MESH:D001254
database_cross_reference: NCI2004_11_17:C4047
database_cross_reference: NCI:C4047
database_cross_reference: SNOMEDCT_US_2018_03_01:67859002
database_cross_reference: UMLS_CUI:C0334583
alternative_term: Piloid astrocytoma
alternative_term: grade I Astrocytic tumor
has_obo_namespace: disease_ontology
id: DOID:4851
in subset: DO cancer slim
in subset: NCIthesaurus

pleomorphic xanthoastrocytoma
type: Class
subclass of: astrocytoma
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/31361236
database_cross_reference: NCI2004_11_17:C4323
database_cross_reference: NCI:C4323
database_cross_reference: SNOMEDCT_US_2018_03_01:78838008
database_cross_reference: UMLS_CUI:C0334586
alternative_term: Pleomorphic Xantho-astrocytoma
has_obo_namespace: disease_ontology
id: DOID:4852
in subset: NCIthesaurus
from pub med: true

juvenile myoclonic epilepsy
type: Class
subclass of: idiopathic generalized epilepsy
subclass of: adolescent/adult-onset epilepsy syndrome
definition: 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.
imported from: doid.owl
has_alternative_id: DOID:0050326
database_cross_reference: GARD:6808
database_cross_reference: MESH:D020190
database_cross_reference: NCI:C84796
database_cross_reference: OMIM:254770
database_cross_reference: ORDO:307
database_cross_reference: ORDO:862
database_cross_reference: SNOMEDCT_US_2018_03_01:6204001
database_cross_reference: UMLS_CUI:C0270853
has definition: 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.
has_narrow_synonym: Janz syndrome
has_obo_namespace: disease_ontology
id: DOID:4890
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
from EPILONT: true
from ILAE: true

Axiom
annotated source: juvenile myoclonic epilepsy
annotated property: hasDefinition
annotated target: 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.

thyroid gland disease
type: Class
subclass of: endocrine system disease
definition: An endocrine system disease that is located_in the thyroid.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/18777476
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26362394
database_cross_reference: ICD10CM:E00-E07
database_cross_reference: ICD10CM:E07.9
database_cross_reference: ICD9CM:240-246.99
database_cross_reference: ICD9CM:246.9
database_cross_reference: MESH:D013959
database_cross_reference: NCI:C26893
database_cross_reference: SNOMEDCT_US_2018_03_01:14304000
database_cross_reference: UMLS_CUI:C0040128
alternative_term: Transient ischemic attack
has_obo_namespace: disease_ontology
has_related_synonym: Thyroid hormone abnormalities
id: DOID:50
in subset: NCIthesaurus
from pub med: true

ganglioglioma
type: Class
subclass of: Neoplasm
definition: A cell type benign neoplasm that has_material_basis_in glial-type cells.
imported from: doid.owl
has_alternative_id: DOID:5606
has_alternative_id: DOID:5607
database_cross_reference: GARD:2430
database_cross_reference: MESH:D018303
database_cross_reference: NCI:C27362
database_cross_reference: NCI:C27363
database_cross_reference: NCI:C3788
database_cross_reference: SNOMEDCT_US_2018_03_01:89880005
database_cross_reference: UMLS_CUI:C0206716
database_cross_reference: UMLS_CUI:C1332202
database_cross_reference: UMLS_CUI:C1332969
has definition: 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.
alternative_term: CNS ganglioglioma
alternative_term: adult ganglioglioma
alternative_term: childhood ganglioglioma
has_obo_namespace: disease_ontology
id: DOID:5078
in subset: NCIthesaurus
from ILAE: true

Axiom
annotated source: ganglioglioma
annotated property: hasDefinition
annotated target: 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.

nutritional deficiency disease
type: Class
subclass of: nutrition disease
definition: A nutrition disease that is characterized by deficiency of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content.
imported from: doid.owl
database_cross_reference: MESH:D003677
database_cross_reference: UMLS_CUI:C0011156
has_obo_namespace: disease_ontology
id: DOID:5113
from article: true

human immunodeficiency virus infectious disease
type: Class
subclass of: infectious etiology
definition: 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.
imported from: doid.owl
database_cross_reference: CSP2005:1560-6305
database_cross_reference: ICD10CM:B20
database_cross_reference: ICD10CM:B20-B20
database_cross_reference: ICD9CM:042
database_cross_reference: ICD9CM:042-042.99
database_cross_reference: MESH:D015658
database_cross_reference: NCI:C3108
database_cross_reference: SNOMEDCT_US_2018_03_01:86406008
database_cross_reference: UMLS_CUI:C0019693
has definition: 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.
alternative_term: HIV
alternative_term: HIV infection
has_obo_namespace: disease_ontology
id: DOID:526
in subset: NCIthesaurus
in subset: zoonotic infectious disease
from ILAE: true

Axiom
annotated source: human immunodeficiency virus infectious disease
annotated property: hasDefinition
annotated target: 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.

intestinal disease
type: Class
subclass of: gastrointestinal system disease
definition: A gastrointestinal system disease that is located_in the intestine.
imported from: doid.owl
has_alternative_id: DOID:10759
has_alternative_id: DOID:11222
has_alternative_id: DOID:11789
has_alternative_id: DOID:8531
has_alternative_id: DOID:8558
has_alternative_id: DOID:8591
database_cross_reference: ICD10CM:K63.9
database_cross_reference: ICD9CM:569.9
database_cross_reference: MESH:D007410
database_cross_reference: NCI:C26801
database_cross_reference: SNOMEDCT_US_2018_03_01:85919009
database_cross_reference: UMLS_CUI:C0021831
has_obo_namespace: disease_ontology
id: DOID:5295
in subset: NCIthesaurus

anterograde amnesia
type: Class
subclass of: amnestic disorder
definition: An amnestic disorder that involves the impaired or lost ability to memorize new things.
imported from: doid.owl
database_cross_reference: ICD10CM:R41.1
database_cross_reference: MESH:D020324
database_cross_reference: SNOMEDCT_US_2018_03_01:88822006
database_cross_reference: UMLS_CUI:C0233795
has_obo_namespace: disease_ontology
id: DOID:5340
from ESSO: true

sleep disorder
type: Class
subclass of: epilepsy imitator
definition: A disease of mental health that involves disruption of sleep patterns.
imported from: doid.owl
has_alternative_id: DOID:9028
database_cross_reference: ICD9CM:307.4
database_cross_reference: UMLS_CUI:C0154564
alternative_term: Non-organic sleep disorder
has_obo_namespace: disease_ontology
id: DOID:535
in subset: DO FlyBase slim

brain angioma
type: Class
subclass of: hemangioma
subclass of: brain disease
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30924504
database_cross_reference: NCI:C7739
database_cross_reference: UMLS_CUI:C0238814
has_obo_namespace: disease_ontology
id: DOID:5393
in subset: NCIthesaurus
from pub med: true

schizophrenia
type: Class
subclass of: psychotic disorder
definition: A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.
imported from: doid.owl
has_alternative_id: DOID:14734
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/8252282
database_cross_reference: EFO:0000692
database_cross_reference: ICD10CM:F20
database_cross_reference: ICD10CM:F20.9
database_cross_reference: ICD9CM:295
database_cross_reference: ICD9CM:295.9
database_cross_reference: ICD9CM:295.90
database_cross_reference: MESH:D012559
database_cross_reference: NCI:C3362
database_cross_reference: OMIM:181500
database_cross_reference: SNOMEDCT_US_2018_03_01:58214004
database_cross_reference: UMLS_CUI:C0036341
alternative_term: schizophrenia-1
has_obo_namespace: disease_ontology
id: DOID:5419
in subset: DO FlyBase slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
from ESSO: true
from pub med: true

kidney disease
type: Class
subclass of: urinary system disease
definition: A urinary system disease that is located_in the kidney.
imported from: doid.owl
database_cross_reference: EFO:0003086
database_cross_reference: ICD10CM:N08
database_cross_reference: ICD10CM:N28.9
database_cross_reference: MESH:D007674
database_cross_reference: NCI:C3149
database_cross_reference: NCI:C34843
database_cross_reference: SNOMEDCT_US_2018_03_01:90708001
database_cross_reference: UMLS_CUI:C0022658
alternative_term: Renal Disorders
alternative_term: nephropathy
has_obo_namespace: disease_ontology
id: DOID:557
in subset: DO FlyBase slim
in subset: NCIthesaurus
from article: true

eye disease
type: Class
subclass of: sensory system disease
definition: An eye and adnexa disease that is located_in the eye.
imported from: doid.owl
has_alternative_id: DOID:2933
database_cross_reference: ICD10CM:H44
database_cross_reference: ICD10CM:H44.9
database_cross_reference: ICD9CM:360
database_cross_reference: ICD9CM:360.9
database_cross_reference: ICD9CM:379.90
database_cross_reference: MESH:D005128
database_cross_reference: NCI:C26767
database_cross_reference: SNOMEDCT_US_2018_03_01:79517001
database_cross_reference: UMLS_CUI:C0015397
has_obo_namespace: disease_ontology
id: DOID:5614
in subset: DO FlyBase slim
in subset: NCIthesaurus

cranial nerve disease
type: Class
subclass of: neuropathy
definition: A neuropathy that is located_in one of the twelve cranial nerves.
imported from: doid.owl
database_cross_reference: ICD10CM:G52.9
database_cross_reference: ICD9CM:352.9
database_cross_reference: MESH:D003389
database_cross_reference: NCI2004_11_17:C26733
database_cross_reference: NCI:C26733
database_cross_reference: SNOMEDCT_US_2018_03_01:73013002
database_cross_reference: UMLS_CUI:C0010266
alternative_term: Cranial nerve disorder
alternative_term: disorder of cranial nerve
has_obo_namespace: disease_ontology
id: DOID:5656
in subset: NCIthesaurus

peripheral nervous system disease
type: Class
subclass of: nervous system disease
definition: A nervous system disease that affects the peripheral nervous system.
imported from: doid.owl
has_alternative_id: DOID:13069
database_cross_reference: CSP2005:2042-6617
database_cross_reference: ICD10CM:G64
database_cross_reference: ICD9CM:350-359.99
database_cross_reference: MESH:D010523
database_cross_reference: MTH:516
database_cross_reference: NCI:C119734
database_cross_reference: NCI:C27580
database_cross_reference: NCI:C27587
database_cross_reference: SNOMEDCT_US_2018_03_01:42658009
database_cross_reference: UMLS_CUI:C0031117
database_cross_reference: UMLS_CUI:C1335029
has_obo_namespace: disease_ontology
has_related_synonym: peripheral nerve disease
has_related_synonym: peripheral neuropathy
id: DOID:574
in subset: DO AGR slim
in subset: DO GXD slim
in subset: NCIthesaurus

myocardial infarction
type: Class
subclass of: coronary artery disease
definition: A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/19655091
database_cross_reference: CSP2005:1393-3417
database_cross_reference: EFO:0000612
database_cross_reference: ICD10CM:I21
database_cross_reference: ICD10CM:I22
database_cross_reference: MESH:D009203
database_cross_reference: NCI:C27996
database_cross_reference: OMIM:608557
database_cross_reference: SNOMEDCT_US_2018_03_01:22298006
database_cross_reference: SNOMEDCT_US_2018_03_01:66514008
database_cross_reference: UMLS_CUI:C0027051
alternative_term: Myocardial infarct
alternative_term: heart attack
has_obo_namespace: disease_ontology
id: DOID:5844
in subset: NCIthesaurus
comment: Xref MGI.
from pub med: true

phobic disorder
type: Class
subclass of: anxiety disorder
definition: An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation.
imported from: doid.owl
database_cross_reference: ICD10CM:F40
database_cross_reference: ICD10CM:F40.9
database_cross_reference: ICD9CM:300.2
database_cross_reference: ICD9CM:300.20
database_cross_reference: MESH:D010698
database_cross_reference: NCI:C35420
database_cross_reference: SNOMEDCT_US_2018_03_01:52039009
database_cross_reference: SNOMEDCT_US_2018_03_01:65673007
database_cross_reference: UMLS_CUI:C0349231
has_obo_namespace: disease_ontology
id: DOID:591
in subset: NCIthesaurus

agoraphobia
type: Class
subclass of: phobic disorder
definition: 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.
imported from: doid.owl
database_cross_reference: ICD10CM:F40.0
database_cross_reference: ICD10CM:F40.00
database_cross_reference: MESH:D000379
database_cross_reference: NCI:C34362
database_cross_reference: SNOMEDCT_US_2018_03_01:70691001
database_cross_reference: UMLS_CUI:C0001818
alternative_term: Fear of open spaces
has_obo_namespace: disease_ontology
id: DOID:593
in subset: NCIthesaurus
from article: true

panic disorder
type: Class
subclass of: anxiety disorder
definition: 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.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30865078
database_cross_reference: CSP2005:4000-0280
database_cross_reference: EFO:0004262
database_cross_reference: ICD10CM:F41.0
database_cross_reference: MESH:D016584
database_cross_reference: NCI:C34890
database_cross_reference: OMIM:167870
database_cross_reference: OMIM:607853
database_cross_reference: OMIM:609985
database_cross_reference: UMLS_CUI:C0030319
alternative_term: panic anxiety syndrome
has_obo_namespace: disease_ontology
id: DOID:594
in subset: NCIthesaurus
comment: Xref MGI.
from pub med: true

congestive heart failure
type: Class
subclass of: heart disease
definition: 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.
imported from: doid.owl
has_alternative_id: DOID:395
database_cross_reference: CSP2005:1393-3597
database_cross_reference: ICD10CM:I50
database_cross_reference: ICD10CM:I50.9
database_cross_reference: ICD9CM:428
database_cross_reference: ICD9CM:428.0
database_cross_reference: ICD9CM:428.9
database_cross_reference: MESH:D006333
database_cross_reference: MTHICD9_2006:428.0
database_cross_reference: MTHICD9_2006:428.9
database_cross_reference: NCI2004_11_17:C3080
database_cross_reference: NCI:C3080
database_cross_reference: NCI:C50577
database_cross_reference: SNOMEDCT_US_2018_03_01:42343007
database_cross_reference: SNOMEDCT_US_2018_03_01:84114007
database_cross_reference: UMLS_CUI:C0018801
database_cross_reference: UMLS_CUI:C0018802
alternative_term: CHF
alternative_term: Cardiac Failure Congestive
alternative_term: Congestive heart disease
alternative_term: Weak heart
has_obo_namespace: disease_ontology
id: DOID:6000
in subset: NCIthesaurus
from article: true

genetic disease
type: Class
subclass of: disease
definition: A disease that has_material_basis_in genetic variations in the human genome.
imported from: doid.owl
database_cross_reference: MESH:D030342
database_cross_reference: NCI:C3101
database_cross_reference: SNOMEDCT_US_2018_03_01:32895009
database_cross_reference: UMLS_CUI:C0019247
has_obo_namespace: disease_ontology
id: DOID:630
in subset: NCIthesaurus

acquired immunodeficiency syndrome
type: Class
subclass of: human immunodeficiency virus infectious disease
definition: 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.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/10474720
database_cross_reference: EFO:0000765
database_cross_reference: ICD10CM:B20
database_cross_reference: MESH:D000163
database_cross_reference: NCI2004_11_17:C2851
database_cross_reference: NCI:C2851
database_cross_reference: SNOMEDCT_US_2018_03_01:62479008
database_cross_reference: UMLS_CUI:C0001175
alternative_term: AIDS
alternative_term: acquired Immune deficiency
has_obo_namespace: disease_ontology
has_related_synonym: acquired immune deficiency syndrome
id: DOID:635
in subset: NCIthesaurus
in subset: zoonotic infectious disease
from article: true
from pub med: true

migraine
type: Class
subclass of: brain disease
definition: A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing.
imported from: doid.owl
has_alternative_id: DOID:12437
database_cross_reference: EFO:0003821
database_cross_reference: ICD10CM:G43
database_cross_reference: ICD10CM:G43.9
database_cross_reference: ICD10CM:G43.909
database_cross_reference: ICD9CM:346
database_cross_reference: ICD9CM:346.9
database_cross_reference: MESH:D008881
database_cross_reference: NCI:C89715
database_cross_reference: OMIM:157300
database_cross_reference: SNOMEDCT_US_2018_03_01:37796009
database_cross_reference: UMLS_CUI:C0042331
database_cross_reference: UMLS_CUI:C0149931
alternative_term: migraine disorder
alternative_term: migraine variant
alternative_term: migraine with or without aura
has_obo_namespace: disease_ontology
id: DOID:6364
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
from article: true
from ESSO: true

viral encephalitis
type: Class
subclass of: infectious etiology
definition: An encephalitis that involves inflammation of the brain caused by viral infection.
imported from: doid.owl
has_alternative_id: DOID:10248
has_alternative_id: DOID:10249
has_alternative_id: DOID:10839
database_cross_reference: CSP2005:2042-4896
database_cross_reference: MESH:D004671
database_cross_reference: NCI:C34576
database_cross_reference: SNOMEDCT_US_2018_03_01:20411005
database_cross_reference: SNOMEDCT_US_2018_03_01:68197003
database_cross_reference: UMLS_CUI:C0014055
has definition: 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.
alternative_term: epidemic encephalitis
has_obo_namespace: disease_ontology
id: DOID:646
in subset: NCIthesaurus
from ILAE: true

Axiom
annotated source: viral encephalitis
annotated property: hasDefinition
annotated target: 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.

connective tissue disease
type: Class
subclass of: musculoskeletal system disease
definition: A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage.
imported from: doid.owl
database_cross_reference: CSP2005:0729-7208
database_cross_reference: MESH:D003240
database_cross_reference: NCI:C26729
database_cross_reference: UMLS_CUI:C0009782
alternative_term: connective tissue disorder
alternative_term: disorder of connective tissue
has_obo_namespace: disease_ontology
id: DOID:65
in subset: NCIthesaurus

overnutrition
type: Class
subclass of: nutrition disease
definition: 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.
imported from: doid.owl
database_cross_reference: MESH:D044343
database_cross_reference: UMLS_CUI:C1257763
has_obo_namespace: disease_ontology
id: DOID:654
comment: Updated outdated UMLS CUI.

inherited metabolic disorder
type: Class
subclass of: disease of metabolism
subclass of: genetic disease
definition: 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.
imported from: doid.owl
database_cross_reference: CSP2005:1849-0057
database_cross_reference: MESH:D008661
database_cross_reference: NCI2004_11_17:C34816
database_cross_reference: NCI:C34816
database_cross_reference: SNOMEDCT_US_2018_03_01:86095007
database_cross_reference: UMLS_CUI:C0025521
alternative_term: Inborn Errors of Metabolism
alternative_term: Metabolic hereditary disorder
alternative_term: inborn metabolism disorder
has_obo_namespace: disease_ontology
id: DOID:655
in subset: DO MGI slim
in subset: NCIthesaurus

cerebral angioma
type: Class
subclass of: vascular malformation
definition: 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.
imported from: doid.owl
database_cross_reference: NCI2004_11_17:C5433
database_cross_reference: NCI:C5433
database_cross_reference: UMLS_CUI:C0877388
has definition: 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.
alternative_term: hemangioma of Cerebrum
has_obo_namespace: disease_ontology
id: DOID:6621
in subset: NCIthesaurus
from ILAE: true

Axiom
annotated source: cerebral angioma
annotated property: hasDefinition
annotated target: 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.

cerebrovascular disease
type: Class
subclass of: vascular disease
subclass of: brain disease
definition: An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain.
imported from: doid.owl
has_alternative_id: DOID:12214
has_alternative_id: DOID:3455
has_alternative_id: DOID:8231
database_cross_reference: CSP2005:0617-5539
database_cross_reference: EFO:0000712
database_cross_reference: ICD10CM:I60-I69
database_cross_reference: ICD10CM:I63.9
database_cross_reference: ICD10CM:I67.9
database_cross_reference: ICD9CM:430-438.99
database_cross_reference: ICD9CM:437.9
database_cross_reference: MESH:D002561
database_cross_reference: MESH:D020521
database_cross_reference: NCI:C2938
database_cross_reference: NCI:C3390
database_cross_reference: SNOMEDCT_US_2018_03_01:62914000
database_cross_reference: SNOMEDCT_US_2018_03_01:82797006
database_cross_reference: UMLS_CUI:C0007820
database_cross_reference: UMLS_CUI:C0038454
alternative_term: CVA
alternative_term: Cerebrovascular accident
alternative_term: cerebrovascular accident
alternative_term: cerebrovascular disorder
alternative_term: stroke
has_obo_namespace: disease_ontology
id: DOID:6713
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

tauopathy
type: Class
subclass of: neurodegenerative disease
definition: A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain.
imported from: doid.owl
database_cross_reference: MESH:D024801
database_cross_reference: UMLS_CUI:C0949664
has_obo_namespace: disease_ontology
id: DOID:680
in subset: DO FlyBase slim

disease of anatomical entity
type: Class
subclass of: disease
definition: A disease that manifests in a defined anatomical structure.
imported from: doid.owl
has_alternative_id: DOID:1
has_alternative_id: DOID:2
has_alternative_id: DOID:5
has_alternative_id: DOID:71
has_alternative_id: DOID:72
has_alternative_id: DOID:8
has_obo_namespace: disease_ontology
id: DOID:7

rheumatoid arthritis
type: Class
subclass of: arthritis
definition: An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/27856781
database_cross_reference: EFO:0000685
database_cross_reference: ICD10CM:M06.9
database_cross_reference: ICD9CM:714.0
database_cross_reference: KEGG:05323
database_cross_reference: MESH:D001172
database_cross_reference: MTHICD9_2006:714.0
database_cross_reference: NCI2004_11_17:C27206
database_cross_reference: NCI:C2884
database_cross_reference: OMIM:180300
database_cross_reference: SNOMEDCT_US_2018_03_01:69896004
database_cross_reference: UMLS_CUI:C0003873
alternative_term: Arthritis or polyarthritis, rheumatic
alternative_term: atrophic Arthritis
has_obo_namespace: disease_ontology
id: DOID:7148
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].
from article: true
from pub med: true

gastrointestinal system disease
type: Class
subclass of: disease of anatomical entity
definition: A disease of anatomical entity that is located_in the gastrointestinal tract.
imported from: doid.owl
has_alternative_id: DOID:27
has_alternative_id: DOID:944
database_cross_reference: CSP2005:1248-3545
database_cross_reference: ICD10CM:K92.9
database_cross_reference: ICD9CM:520-579.99
database_cross_reference: MESH:D004066
database_cross_reference: SNOMEDCT_US_2018_03_01:53619000
database_cross_reference: UMLS_CUI:C0012242
alternative_term: GIT disease
alternative_term: Gastroenteropathy
alternative_term: alimentary system disease
alternative_term: digestive system disorder
alternative_term: gastrointestinal disease
alternative_term: gastrointestinal disorder
has_obo_namespace: disease_ontology
id: DOID:77
in subset: DO AGR slim
in subset: DO GXD slim
in subset: DO MGI slim

epilepsy with generalized tonic-clonic seizures
type: Class
subclass of: idiopathic generalized epilepsy
subclass of: adolescent/adult-onset epilepsy syndrome
definition: An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type.
imported from: doid.owl
database_cross_reference: MESH:D004830
database_cross_reference: MTHICD9_2006:345.1
database_cross_reference: NCI2004_11_17:C3022
database_cross_reference: NCI:C3022
database_cross_reference: UMLS_CUI:C0014549
has definition: 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.
alternative_term: Epilepsy with generalized tonic-clonic seizure alone
alternative_term: Epileptic seizures, tonic-clonic
alternative_term: Grand Mal epilepsy
alternative_term: Primary generalized tonic-clonic seizure
alternative_term: tonic-clonic epilepsy
has_obo_namespace: disease_ontology
id: DOID:7725
in subset: NCIthesaurus
comment: JA:Epilepsy Genetics Kiel
from ILAE: true

Axiom
annotated source: epilepsy with generalized tonic-clonic seizures
annotated property: hasDefinition
annotated target: 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.

hyperthyroidism
type: Class
subclass of: thyroid gland disease
definition: A thyroid gland disease that involves an over production of thyroid hormone.
imported from: doid.owl
database_cross_reference: ICD10CM:E05.9
database_cross_reference: MESH:D006980
database_cross_reference: NCI2004_11_17:C3123
database_cross_reference: NCI:C3123
database_cross_reference: OMIM:603373
database_cross_reference: OMIM:609152
database_cross_reference: ORDO:99819
database_cross_reference: SNOMEDCT_US_2018_03_01:34486009
database_cross_reference: UMLS_CUI:C0020550
alternative_term: overactive thyroid
has_obo_namespace: disease_ontology
id: DOID:7998
in subset: NCIthesaurus
comment: Xref MGI.
from article: true

Aicardi syndrome
type: Class
subclass of: syndrome
definition: 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.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/20301555
database_cross_reference: GARD:5764
database_cross_reference: MESH:D058540
database_cross_reference: NCI:C35256
database_cross_reference: OMIM:304050
database_cross_reference: ORDO:50
database_cross_reference: SNOMEDCT_US_2018_03_01:80651009
database_cross_reference: UMLS_CUI:C0175713
has_obo_namespace: disease_ontology
id: DOID:8461
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].
from pub med: true

arthritis
type: Class
subclass of: bone inflammation disease
definition: 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.
imported from: doid.owl
database_cross_reference: ICD10CM:M19.90
database_cross_reference: MESH:D001168
database_cross_reference: NCI:C2883
database_cross_reference: SNOMEDCT_US_2018_03_01:3723001
database_cross_reference: UMLS_CUI:C0003864
alternative_term: Inflammatory disorder of joint
has_obo_namespace: disease_ontology
id: DOID:848
in subset: NCIthesaurus

lung disease
type: Class
subclass of: lower respiratory tract disease
definition: 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.
imported from: doid.owl
has_alternative_id: DOID:11894
has_alternative_id: DOID:11895
has_alternative_id: DOID:29
has_alternative_id: DOID:766
database_cross_reference: ICD10CM:J98.4
database_cross_reference: MESH:D008171
database_cross_reference: NCI:C3198
database_cross_reference: SNOMEDCT_US_2018_03_01:19829001
database_cross_reference: UMLS_CUI:C0024115
has_obo_namespace: disease_ontology
id: DOID:850
in subset: NCIthesaurus
comment: Updating out dated CUI and removing lung abscess as a synonym.

bullous pemphigoid
type: Class
subclass of: autoimmune disease of skin and connective tissue
definition: An autoimmune disease of skin and connective tissue characterized by large blisters.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30562654
database_cross_reference: GARD:5972
database_cross_reference: ICD10CM:L12
database_cross_reference: ICD10CM:L12.0
database_cross_reference: ICD10CM:L12.9
database_cross_reference: ICD9CM:694.5
database_cross_reference: MESH:D010391
database_cross_reference: NCI:C34908
database_cross_reference: NCI:C84389
database_cross_reference: SNOMEDCT_US_2018_03_01:77090002
database_cross_reference: SNOMEDCT_US_2018_03_01:86142006
database_cross_reference: UMLS_CUI:C0030805
alternative_term: Bullous pemphigoid
has_obo_namespace: disease_ontology
id: DOID:8506
in subset: NCIthesaurus
from pub med: true

gastroesophageal reflux disease
type: Class
subclass of: gastrointestinal system disease
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK2609/
database_cross_reference: ICD10CM:K21
database_cross_reference: ICD10CM:K21.9
database_cross_reference: ICD9CM:530.81
database_cross_reference: MESH:D005764
database_cross_reference: MTHICD9_2006:530.81
database_cross_reference: NCI2004_11_17:C26781
database_cross_reference: NCI:C26781
database_cross_reference: OMIM:109350
database_cross_reference: SNOMEDCT_US_2018_03_01:54856001
database_cross_reference: UMLS_CUI:C0017168
has definition: 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.
alternative_term: Acid reflux
alternative_term: GERD
alternative_term: GERD - Gastro-esophageal reflux disease
alternative_term: Gastresophageal reflux
alternative_term: Gastro-esophageal reflux
alternative_term: Gastroesophageal reflux
alternative_term: Gastroesophageal reflux disease
has_obo_namespace: disease_ontology
id: DOID:8534
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].
from NCBI book: true

Axiom
annotated source: gastroesophageal reflux disease
annotated property: hasDefinition
annotated target: 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.

nervous system disease
type: Class
subclass of: disease of anatomical entity
definition: A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system.
imported from: doid.owl
database_cross_reference: ICD10CM:G00-G99
database_cross_reference: ICD10CM:G98
database_cross_reference: ICD10CM:G98.8
database_cross_reference: ICD9CM:349.9
database_cross_reference: MESH:D009422
database_cross_reference: NCI:C26835
database_cross_reference: UMLS_CUI:C0027765
has_obo_namespace: disease_ontology
id: DOID:863
in subset: DO GXD slim
in subset: DO MGI slim
in subset: NCIthesaurus

neuropathy
type: Class
subclass of: peripheral nervous system disease
definition: A nervous system disease that is located_in nerves or nerve cells.
imported from: doid.owl
database_cross_reference: ICD10CM:G62.9
database_cross_reference: NCI:C4731
database_cross_reference: SNOMEDCT_US_2018_03_01:42658009
database_cross_reference: UMLS_CUI:C0442874
alternative_term: peripheral neuropathy
has_obo_namespace: disease_ontology
id: DOID:870
in subset: NCIthesaurus

Crohn's disease
type: Class
subclass of: inflammatory bowel disease
definition: An intestinal disease that involves inflammation located_in intestine.
imported from: doid.owl
has_alternative_id: DOID:8784
has_alternative_id: DOID:8855
has_alternative_id: DOID:8942
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26549780
database_cross_reference: EFO:0000384
database_cross_reference: GARD:10232
database_cross_reference: ICD10CM:K50.1
database_cross_reference: ICD9CM:555.1
database_cross_reference: MESH:D003424
database_cross_reference: NCI2004_11_17:C37262
database_cross_reference: NCI:C35211
database_cross_reference: NCI:C37262
database_cross_reference: SNOMEDCT_US_2018_03_01:50440006
database_cross_reference: SNOMEDCT_US_2018_03_01:7620006
database_cross_reference: UMLS_CUI:C0156147
alternative_term: Crohn disease
alternative_term: Crohn's disease of colon
alternative_term: Crohn's disease of large bowel
alternative_term: Granulomatous Colitis
alternative_term: Pediatric Crohn's disease
has_obo_namespace: disease_ontology
id: DOID:8778
in subset: NCIthesaurus
comment: MESH:C536215 added from NeuroDevNet [WAK].
from pub med: true

lupus erythematosus
type: Class
subclass of: autoimmune hypersensitivity disease
definition: 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.
imported from: doid.owl
database_cross_reference: ICD10CM:L93
database_cross_reference: ICD10CM:L93.0
database_cross_reference: ICD9CM:695.4
database_cross_reference: NCI2004_11_17:C27153
database_cross_reference: NCI:C27153
database_cross_reference: UMLS_CUI:C0409974
alternative_term: lupus
has_obo_namespace: disease_ontology
id: DOID:8857
in subset: NCIthesaurus

neuromyelitis optica
type: Class
subclass of: autoimmune disease of central nervous system
subclass of: autoimmune disease of peripheral nervous system
subclass of: optic nerve disease
subclass of: spinal cord disease
definition: A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis).
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29379967
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30562654
database_cross_reference: EFO:0004256
database_cross_reference: GARD:6267
database_cross_reference: ICD10CM:G36.0
database_cross_reference: ICD9CM:341.0
database_cross_reference: MESH:D009471
database_cross_reference: NCI:C84934
database_cross_reference: SNOMEDCT_US_2018_03_01:25044007
database_cross_reference: UMLS_CUI:C0027873
alternative_term: Devic's disease
alternative_term: Devic's syndrome
has_obo_namespace: disease_ontology
id: DOID:8869
in subset: DO rare slim
in subset: NCIthesaurus
from pub med: true

psoriasis
type: Class
subclass of: skin disease
definition: A skin disease that is characterized by patches of thick red skin and silvery scales.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/24687183
database_cross_reference: EFO:0000676
database_cross_reference: GARD:10262
database_cross_reference: ICD10CM:L40
database_cross_reference: ICD10CM:L40.9
database_cross_reference: MESH:D011565
database_cross_reference: NCI:C3346
database_cross_reference: OMIM:PS177900
database_cross_reference: SNOMEDCT_US_2018_03_01:9014002
database_cross_reference: UMLS_CUI:C0033860
has_obo_namespace: disease_ontology
id: DOID:8893
in subset: NCIthesaurus
comment: Xref MGI. Update outdated UMLS CUI from C00295134 to C0033860.
from pub med: true

progressive myoclonus epilepsy
type: Class
subclass of: variable age onset epilepsy
definition: A variable age at onset electroclinical syndrome characterised by a relentlessly progressive disease course until death.
imported from: doid.owl
database_cross_reference: GARD:7140
database_cross_reference: MESH:D020191
database_cross_reference: NCI2004_11_17:C7636
database_cross_reference: NCI:C7636
database_cross_reference: OMIM:310370
database_cross_reference: OMIM:PS254800
database_cross_reference: SNOMEDCT_US_2018_03_01:89480000
database_cross_reference: UMLS_CUI:C0751778
has definition: 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
alternative_term: PME
alternative_term: progressive Myoclonus epilepsy
alternative_term: progressive myoclonic epilepsy
has_obo_namespace: disease_ontology
id: DOID:891
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN]. OMIM mapping submitted by NeuroDevNet. [LS].
from EPILONT: true
from ILAE: true

Axiom
annotated source: progressive myoclonus epilepsy
annotated property: hasDefinition
annotated target: 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

learning disability
type: Class
subclass of: specific developmental disorder
definition: 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.
imported from: doid.owl
has_alternative_id: DOID:2847
database_cross_reference: CSP2005:2483-6402
database_cross_reference: ICD10CM:F81.9
database_cross_reference: MESH:D007859
database_cross_reference: NCI:C89334
database_cross_reference: SNOMEDCT_US_2018_03_01:1855002
database_cross_reference: UMLS_CUI:C0023186
database_cross_reference: UMLS_CUI:C0751265
alternative_term: Academic skill disorder
alternative_term: learning disorder
has_obo_namespace: disease_ontology
id: DOID:8927
in subset: DO FlyBase slim
in subset: NCIthesaurus
from ESSO: true

subacute sclerosing panencephalitis
type: Class
subclass of: viral infectious disease
definition: A viral infectious disease that results_in infection located_in brain and that has_material_basis_in Measles virus which is immune resistant.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/24073547
database_cross_reference: CSP2005:2042-2360
database_cross_reference: GARD:7708
database_cross_reference: ICD10CM:A81.1
database_cross_reference: ICD9CM:046.2
database_cross_reference: MESH:D013344
database_cross_reference: NCI:C85171
database_cross_reference: OMIM:260470
database_cross_reference: SNOMEDCT_US_2018_03_01:84196008
database_cross_reference: UMLS_CUI:C0038522
alternative_term: Immunosuppressive measles encephalitis
alternative_term: Subacute Sclerosing Panencephalitis
alternative_term: Subacute sclerosing panencephalitis
alternative_term: Van Bogaert's sclerosing leukoencephalitis
alternative_term: subacute sclerosing leukoencephalopathy
has_obo_namespace: disease_ontology
id: DOID:8970
in subset: NCIthesaurus
from pub med: true

narcolepsy
type: Class
subclass of: sleeping behavior phenotype
definition: A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work.
imported from: doid.owl
has_alternative_id: DOID:8985
database_cross_reference: CSP2005:2056-7716
database_cross_reference: EFO:0000614
database_cross_reference: GARD:7162
database_cross_reference: ICD10CM:G47.41
database_cross_reference: ICD10CM:G47.419
database_cross_reference: ICD9CM:347.0
database_cross_reference: MESH:D009290
database_cross_reference: NCI:C84489
database_cross_reference: OMIM:161400
database_cross_reference: OMIM:605841
database_cross_reference: OMIM:609039
database_cross_reference: OMIM:612417
database_cross_reference: OMIM:612851
database_cross_reference: OMIM:614223
database_cross_reference: OMIM:614250
database_cross_reference: ORDO:2073
database_cross_reference: SNOMEDCT_US_2018_03_01:60380001
database_cross_reference: UMLS_CUI:C0027404
alternative_term: Narcolepsy, without cataplexy
alternative_term: paroxysmal sleep
has_obo_namespace: disease_ontology
id: DOID:8986
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.
from article: true

peroxisomal disease
type: Class
subclass of: metabolic etiology
definition: An inherited metabolic disorder that involves peroxisome malfunction.
imported from: doid.owl
database_cross_reference: ICD10CM:E71.5
database_cross_reference: ICD10CM:E71.50
database_cross_reference: ICD9CM:277.86
database_cross_reference: ICD9CM_2006:277.86
database_cross_reference: MESH:D018901
database_cross_reference: NCI:C85005
database_cross_reference: UMLS_CUI:C0282528
has definition: 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.
alternative_term: Peroxisomal disorder
alternative_term: peroxisomal disorder
has_obo_namespace: disease_ontology
id: DOID:906
in subset: DO FlyBase slim
in subset: NCIthesaurus
from ILAE: true

Axiom
annotated source: peroxisomal disease
annotated property: hasDefinition
annotated target: 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.

systemic lupus erythematosus
type: Class
subclass of: rheumatic disease
subclass of: lupus erythematosus
definition: 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.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/25214788
database_cross_reference: CSP2005:0729-7721
database_cross_reference: EFO:0002690
database_cross_reference: GARD:10253
database_cross_reference: ICD10CM:M32
database_cross_reference: ICD10CM:M32.9
database_cross_reference: ICD9CM:710.0
database_cross_reference: KEGG:05322
database_cross_reference: MESH:D008180
database_cross_reference: MTH:U002054
database_cross_reference: NCI2004_11_17:C3201
database_cross_reference: NCI:C3201
database_cross_reference: OMIM:152700
database_cross_reference: OMIM:300809
database_cross_reference: OMIM:605480
database_cross_reference: OMIM:608437
database_cross_reference: OMIM:609903
database_cross_reference: OMIM:609939
database_cross_reference: OMIM:610065
database_cross_reference: OMIM:610066
database_cross_reference: OMIM:612254
database_cross_reference: OMIM:612378
database_cross_reference: OMIM:613145
database_cross_reference: OMIM:614420
database_cross_reference: ORDO:536
database_cross_reference: SNOMEDCT_US_2018_03_01:55464009
database_cross_reference: UMLS_CUI:C0024141
alternative_term: Lupus Erythematosus, systemic
alternative_term: SLE - Lupus Erythematosus, systemic
alternative_term: disseminated lupus erythematosus
has_obo_namespace: disease_ontology
id: DOID:9074
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.
from ESSO: true
from pub med: true

REM sleep behavior disorder
type: Class
subclass of: sleep disorder
definition: A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29791879
database_cross_reference: ICD10CM:G47.52
database_cross_reference: ICD9CM:327.42
database_cross_reference: MESH:D020187
database_cross_reference: UMLS_CUI:C0751772
has definition: 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.
alternative_term: REM sleep behaviour disorder
alternative_term: REM sleep disorder
alternative_term: Rapid eye movement sleep behavior disorder
alternative_term: Rapid eye movement sleep behaviour disorder
alternative_term: Rapid eye movement sleep disorder
has_obo_namespace: disease_ontology
id: DOID:9091
from ILAE: true
from pub med: true

Axiom
annotated source: REM sleep behavior disorder
annotated property: hasDefinition
annotated target: 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.

speech disorder
type: Class
subclass of: communication disorder
definition: A communication disorder that involves difficulty with the act of speech production.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29241678
database_cross_reference: MESH:D013064
database_cross_reference: NCI:C5041
database_cross_reference: UMLS_CUI:C0037822
has_obo_namespace: disease_ontology
id: DOID:92
in subset: NCIthesaurus
from pub med: true

periodic limb movement disorder
type: Class
subclass of: sleep disorder
definition: A sleep disorder that involves involuntary limb movement during sleep.
imported from: doid.owl
database_cross_reference: ICD10CM:G47.61
database_cross_reference: ICD9CM:327.51
database_cross_reference: MESH:D020189
database_cross_reference: UMLS_CUI:C0751774
has definition: 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.
alternative_term: Periodic leg movement
alternative_term: nocturnal myoclonus
has_obo_namespace: disease_ontology
id: DOID:9207
from article: true
from ILAE: true

Axiom
annotated source: periodic limb movement disorder
annotated property: hasDefinition
annotated target: 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.

amino acid metabolic disorder
type: Class
subclass of: inherited metabolic disorder
definition: An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.
imported from: doid.owl
database_cross_reference: GARD:5793
database_cross_reference: ICD10CM:E72.9
database_cross_reference: ICD9CM:270
database_cross_reference: ICD9CM:270.9
database_cross_reference: MESH:D000592
database_cross_reference: NCI:C97090
database_cross_reference: SNOMEDCT_US_2018_03_01:42930003
database_cross_reference: SNOMEDCT_US_2018_03_01:44779003
database_cross_reference: UMLS_CUI:C0002514
alternative_term: inborn errors of amino acid metabolism
has_obo_namespace: disease_ontology
id: DOID:9252
in subset: NCIthesaurus

phenylketonuria
type: Class
subclass of: amino acid metabolic disorder
definition: An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.
imported from: doid.owl
has_alternative_id: DOID:14455
database_cross_reference: CSP2005:1849-1177
database_cross_reference: GARD:7383
database_cross_reference: ICD9CM:270.1
database_cross_reference: MESH:D010661
database_cross_reference: MESH:D017042
database_cross_reference: MTHICD9_2006:270.1
database_cross_reference: NCI:C81315
database_cross_reference: OMIM:261600
database_cross_reference: ORDO:716
database_cross_reference: UMLS_CUI:C0031485
database_cross_reference: UMLS_CUI:C0085547
alternative_term: F��lling's disease
alternative_term: PKU
alternative_term: maternal phenylketonuria
alternative_term: phenylalaninemia
has_obo_namespace: disease_ontology
id: DOID:9281
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].
from article: true
from ESSO: true

language disorder
type: Class
subclass of: communication disorder
definition: A communication disorder that involves the processing of linguistic information.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29241678
database_cross_reference: ICD10CM:F80.9
database_cross_reference: MESH:D007806
database_cross_reference: NCI:C97155
database_cross_reference: SNOMEDCT_US_2018_03_01:62305002
database_cross_reference: UMLS_CUI:C0023015
alternative_term: Language Dysfunction
alternative_term: dysphasia
has_obo_namespace: disease_ontology
id: DOID:93
in subset: NCIthesaurus
from article: true
from ESSO: true
from pub med: true

scotoma
type: Class
subclass of: eye disease
imported from: doid.owl
has_alternative_id: DOID:10750
has_alternative_id: DOID:10751
has_alternative_id: DOID:9482
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29720810
database_cross_reference: ICD10CM:H53.42
database_cross_reference: ICD10CM:H53.45
database_cross_reference: ICD9CM:368.42
database_cross_reference: ICD9CM:368.44
database_cross_reference: ICD9CM_2006:368.42
database_cross_reference: MESH:D012607
database_cross_reference: MTHICD9_2006:368.42
database_cross_reference: SNOMEDCT_US_2018_03_01:33970004
database_cross_reference: UMLS_CUI:C0029657
database_cross_reference: UMLS_CUI:C0152192
alternative_term: Blind spot area scotoma
alternative_term: Enlarged angioscotoma
alternative_term: Enlarged blind spot
alternative_term: Enlarged paracaecal scotoma
alternative_term: Generalized visual field contraction or constriction
alternative_term: Scotoma of blind spot area
alternative_term: Sector or arcuate visual field defects
has_obo_namespace: disease_ontology
id: DOID:9335
from ESSO: true
from pub med: true

viral infectious disease
type: Class
subclass of: disease by infectious agent
definition: A disease by infectious agent that results in infection, has_material_basis_in Viruses.
imported from: doid.owl
has_alternative_id: DOID:1329
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK83677/
database_cross_reference: CSP2005:3099-8150
database_cross_reference: ICD10CM:A94
database_cross_reference: ICD10CM:B34
database_cross_reference: ICD10CM:B34.9
database_cross_reference: ICD9CM:060-066.99
database_cross_reference: ICD9CM:066.9
database_cross_reference: MESH:D001102
database_cross_reference: MESH:D014777
database_cross_reference: NCI2004_11_17:C3439
database_cross_reference: NCI:C3439
database_cross_reference: NCI:C34396
database_cross_reference: SNOMEDCT_US_2018_03_01:34014006
database_cross_reference: SNOMEDCT_US_2018_03_01:40610006
database_cross_reference: UMLS_CUI:C0003723
database_cross_reference: UMLS_CUI:C0042769
alternative_term: Viral Infection
alternative_term: Viral disease
alternative_term: virus infection
has_obo_namespace: disease_ontology
id: DOID:934
in subset: DO AGR slim
in subset: DO FlyBase slim
in subset: NCIthesaurus
from NCBI book: true

diabetes mellitus
type: Class
subclass of: glucose metabolism disease
definition: 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.
imported from: doid.owl
database_cross_reference: ICD10CM:E08-E13
database_cross_reference: ICD9CM:250
database_cross_reference: MESH:D003920
database_cross_reference: NCI:C2985
database_cross_reference: SNOMEDCT_US_2018_03_01:73211009
database_cross_reference: UMLS_CUI:C0011849
has_obo_namespace: disease_ontology
id: DOID:9351
in subset: NCIthesaurus

brain disease
type: Class
subclass of: central nervous system disease
definition: A central nervous system disease that is located_in the brain.
imported from: doid.owl
has_alternative_id: DOID:8510
database_cross_reference: ICD10CM:G93.40
database_cross_reference: ICD10CM:G93.9
database_cross_reference: ICD9CM:348.3
database_cross_reference: ICD9CM:348.30
database_cross_reference: ICD9CM:348.9
database_cross_reference: MESH:D001927
database_cross_reference: NCI:C26920
database_cross_reference: NCI:C96413
database_cross_reference: SNOMEDCT_US_2018_03_01:76011009
database_cross_reference: SNOMEDCT_US_2018_03_01:81308009
database_cross_reference: UMLS_CUI:C0006111
database_cross_reference: UMLS_CUI:C0085584
alternative_term: encephalopathy
has_obo_namespace: disease_ontology
id: DOID:936
in subset: NCIthesaurus

intracranial hypertension
type: Class
subclass of: Miscellaneous
definition: 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.
imported from: doid.owl
database_cross_reference: MESH:D019586
database_cross_reference: NCI:C84791
database_cross_reference: SNOMEDCT_US_2018_03_01:28073009
database_cross_reference: UMLS_CUI:C0151740
has definition: 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.
alternative_term: Raised intracranial pressure
has_obo_namespace: disease_ontology
id: DOID:9428
in subset: NCIthesaurus
from ILAE: true

Axiom
annotated source: intracranial hypertension
annotated property: hasDefinition
annotated target: 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.

lipid storage disease
type: Class
subclass of: lysosomal storage disease
definition: A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues.
imported from: doid.owl
has_alternative_id: DOID:10583
database_cross_reference: CSP2005:1849-5707
database_cross_reference: ICD10CM:E75.6
database_cross_reference: ICD9CM:272.7
database_cross_reference: ICD9CM:272.8
database_cross_reference: MESH:D008064
database_cross_reference: MTHICD9_2006:272.7
database_cross_reference: SNOMEDCT_US_2018_03_01:10741005
database_cross_reference: SNOMEDCT_US_2018_03_01:11455007
database_cross_reference: UMLS_CUI:C0023794
database_cross_reference: UMLS_CUI:C0029591
alternative_term: Lipoid storage diseas
alternative_term: Lipoidosis
alternative_term: inborn lipid storage disorder
alternative_term: lipoidosis
has_obo_namespace: disease_ontology
id: DOID:9455

encephalitis
type: Class
subclass of: brain disease
definition: A brain disease that is characterized as an acute inflammation of the brain with flu-like symptoms.
imported from: doid.owl
has_alternative_id: DOID:2160
database_cross_reference: MESH:D004660
database_cross_reference: NCI:C26760
database_cross_reference: SNOMEDCT_US_2018_03_01:45170000
database_cross_reference: UMLS_CUI:C0014038
has_obo_namespace: disease_ontology
id: DOID:9588
in subset: NCIthesaurus

episodic ataxia
type: Class
subclass of: rare paroxysmal movement disorder
definition: A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29791879
database_cross_reference: GARD:9851
database_cross_reference: MESH:C580065
database_cross_reference: ORDO:211062
database_cross_reference: UMLS_CUI:C1720189
has definition: 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.
alternative_term: Isaacs syndrome
has_obo_namespace: disease_ontology
id: DOID:963
in subset: DO rare slim
comment: Xref MGI. OMIM mapping confirmed by DO. [SN]. Updated outdated UMLS CUI.
from ILAE: true
from pub med: true

Axiom
annotated source: episodic ataxia
annotated property: hasDefinition
annotated target: 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.

type 1 diabetes mellitus
type: Class
subclass of: diabetes mellitus
definition: 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.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30600130
database_cross_reference: EFO:0001359
database_cross_reference: GARD:10268
database_cross_reference: ICD10CM:E10
database_cross_reference: KEGG:04940
database_cross_reference: MESH:D003922
database_cross_reference: NCI:C2986
database_cross_reference: OMIM:222100
database_cross_reference: SNOMEDCT_US_2018_03_01:46635009
database_cross_reference: UMLS_CUI:C0011854
alternative_term: Diabetes Mellitus Type 1
alternative_term: IDDM
alternative_term: insulin-dependent diabetes mellitus
alternative_term: type I diabetes mellitus
has_obo_namespace: disease_ontology
id: DOID:9744
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
from ESSO: true
from pub med: true

obesity
type: Class
subclass of: overnutrition
definition: 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.
imported from: doid.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/20161538
database_cross_reference: EFO:0001073
database_cross_reference: ICD10CM:E66.9
database_cross_reference: ICD9CM:278.00
database_cross_reference: MESH:D009765
database_cross_reference: NCI:C3283
database_cross_reference: OMIM:601665
database_cross_reference: SNOMEDCT_US_2018_03_01:5476005
database_cross_reference: UMLS_CUI:C0028754
has_obo_namespace: disease_ontology
id: DOID:9970
in subset: DO FlyBase slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].
from pub med: true

substance dependence
type: Class
subclass of: substance-related disorder
definition: A substance-related disorder that involves the continued use of alcohol or other drugs despite problems related to use of the substance.
imported from: doid.owl
database_cross_reference: NCI:C35458
database_cross_reference: UMLS_CUI:C0439857
has_obo_namespace: disease_ontology
id: DOID:9973
in subset: NCIthesaurus

hypoglycemia
type: Class
subclass of: pancreas disease
subclass of: glucose metabolism disease
definition: A glucose metabolism disease that is characterized by abnormally low levels of blood glucose.
imported from: doid.owl
database_cross_reference: ICD10CM:E16.2
database_cross_reference: ICD9CM:251.2
database_cross_reference: MESH:D007003
database_cross_reference: NCI:C3126
database_cross_reference: SNOMEDCT_US_2018_03_01:66694000
database_cross_reference: UMLS_CUI:C0020615
alternative_term: Hypoglycaemia
has_obo_namespace: disease_ontology
id: DOID:9993
in subset: NCIthesaurus
from article: true

technique
type: Class
subclass of: planned process
example of usage: Flow cytometry is a technique.
has curation status: IAO_0000120
definition: A technique is a planned process used to accomplish a specific activity or task.
definition editor: PERSON: Melissa Haendel
definition source: http://en.wikipedia.org/wiki/Technique
imported from: ero.owl
has_related_synonym: Diagnostic Test
comment: 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
from ESSO: true

intervention
type: Class
subclass of: planned process
example of usage: An drug intervention for cancer.
has curation status: IAO_0000120
definition: 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.
definition editor: PERSON: Melanie Wilson
definition source: PERSON: Melissa Haendel
imported from: ero.owl

educational intervention
type: Class
subclass of: intervention
editor preferred label: educational intervention
has curation status: IAO_0000123
definition: An intervention which involves education, training programs, and courses in various fields and disciplines, and for training groups of persons.
definition editor: PERSON: Melanie Wilson
definition source: PERSON: Melanie Wilson
imported from: ero.owl
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK100608/
comment: MeSH ID: Q000193
from NCBI book: true

psychological and behavioral intervention
type: Class
subclass of: planned process
editor preferred label: psychological and behavioral intervention
has curation status: IAO_0000123
definition: Psychological or behavior intervention is a combination of program elements, strategies, or modalities designed to influence psychological or behavioral processes or outcomes.
definition editor: PERSON: Matthew Brush
definition source: PERSON: Melanie Wilson
imported from: ero.owl

molecular assay
type: Class
subclass of: assay
subclass of: Restriction
  on property: isDiagnosisFor
  some values from: epilepsy
example of usage: PCR.
has curation status: IAO_0000120
definition: 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.
definition editor: PERSON: Nicole Vasilevsky
definition source: PERSON: Matthew Brush
imported from: ero.owl

cerebro-spinal tap
type: Class
subclass of: material processing
example of usage: A spinal tap may be performed to determine if a patient has a neurological disorder.
has curation status: IAO_0000120
definition: 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.
definition editor: PERSON: Nicole Vasilevsky
alternative term: CSF collection
alternative term: Cerebrospinal fluid collection
alternative term: Spinal tap
definition source: http://www.weissandnewberrymds.com/services.htm
imported from: ero.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26468872
alternative_term: Lumbar Puncture
from pub med: true

next generation DNA sequencing
type: Class
subclass of: DNA sequencing
has curation status: IAO_0000123
definition: 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.
definition editor: PERSON: Nicole Vasilevsky
alternative term: Genome sequencing
alternative term: High throughput DNA sequencing
alternative term: High throughput nucleotide sequencing
alternative term: NGS
alternative term: Next gen
alternative term: Next gen sequencing
alternative term: Next generation sequencing of target genes
alternative term: Nucleotide sequencing, high-throughput
alternative term: Second generation sequencing
alternative term: Sequencing, high-throughput nucleotide
definition source: Mardis (2008) Annu. Rev. Genomics Hum. Genet. 9:387-402
imported from: ero.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30661434
from pub med: true

magnetic resonance imaging
type: Class
subclass of: physiological assay
subclass of: Restriction
  on property: isDiagnosisFor
  some values from: epilepsy
example of usage: Used to study brain function and activity.
has curation status: IAO_0000120
definition: A physiological assay that uses nuclear magnetic resonance of protons to produce proton density images.
definition editor: PERSON: Nicole Vasilevsky
alternative term: MRI
definition source: http://wordnetweb.princeton.edu/perl/webwn
imported from: ero.owl
from EPILONT: true
from ESSO: true

magnetic resonance spectroscopy
type: Class
subclass of: physiological assay
example of usage: Used to study brain function and activity.
has curation status: IAO_0000120
definition: 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.
definition editor: PERSON: Nicole Vasilevsky
alternative term: MRS
definition source: http://www.ncbi.nlm.nih.gov/pubmed/16148633
imported from: ero.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/27430454
from EPILONT: true
from pub med: true

organismal assay
type: Class
subclass of: assay
example of usage: Phenotype characterization of a transgenic mouse.
has curation status: IAO_0000120
definition: An assay that generates data about the physical characteristics, physological functions, or behavior of organisms or viruses.
definition editor: PERSON: Nicole Vasilevsky
definition source: PERSON: Matthew Brush
imported from: ero.owl

nucleic acid assay
type: Class
subclass of: molecular assay
example of usage: PCR.
has curation status: IAO_0000120
definition: A molecular assay that generates data about the presence, abundance, structure, function, or activity of nucleic acids.
definition editor: PERSON: Nicole Vasilevsky
definition source: PERSON: Matthew Brush
imported from: ero.owl

physiological assay
type: Class
subclass of: organismal assay
example of usage: Electrocardiogram.
has curation status: IAO_0000120
definition: 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.
definition editor: PERSON: Nicole Vasilevsky
definition source: http://www.merriam-webster.com/dictionary/physiology
imported from: ero.owl

imaging technique
type: Class
subclass of: technique
example of usage: MRI.
has curation status: IAO_0000120
definition: 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).
definition editor: PERSON: Nicole Vasilevsky
definition source: http://en.wikipedia.org/wiki/Imaging
imported from: ero.owl

neuropsychological testing
type: Class
subclass of: physiological assay
has curation status: IAO_0000123
definition: 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.
definition editor: PERSON: Nicole Vasilevsky
definition source: http://en.wikipedia.org/wiki/Neuropsychological_test
imported from: ero.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/27789166
alternative_term: neuropsychological evaluation
from pub med: true

single photon emission computed tomography
type: Class
subclass of: imaging technique
subclass of: Restriction
  on property: isDiagnosisFor
  some values from: epilepsy
has curation status: IAO_0000123
definition: 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.
definition editor: PERSON: Nicole Vasilevsky
alternative term: SPECT
definition source: http://www.medterms.com/script/main/art.asp
imported from: ero.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/21490734
from EPILONT: true
from ESSO: true
from pub med: true

karyotyping
type: Class
subclass of: molecular assay
example of usage: Karyotyping of patient to determine if they carry a genetic disease.
has curation status: IAO_0000120
definition: A molecular assay used to determine the number and appearance of chromosomes in the nucleus of a eukaryotic cell.
definition editor: PERSON: Nicole Vasilevsky
alternative term: Chromosomal analysis
definition source: http://en.wikipedia.org/wiki/Karyotype
imported from: ero.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29722352
from pub med: true

polysomnography
type: Class
subclass of: physiological assay
has curation status: IAO_0000123
definition: A physiological assay used in the study of sleep and as a diagnostic tool in sleep medicine.
definition editor: PERSON: Nicole Vasilevsky
alternative term: Sleep study
definition source: http://en.wikipedia.org/wiki/Polysomnography
imported from: ero.owl
from ESSO: true

positron emission tomography
type: Class
subclass of: imaging technique
subclass of: Restriction
  on property: isDiagnosisFor
  some values from: epilepsy
has curation status: IAO_0000123
definition: 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.
definition editor: PERSON: Nicole Vasilevsky
alternative term: PET
definition source: http://en.wikipedia.org/wiki/Positron_emission_tomography
imported from: ero.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/14537108
from EPILONT: true
from ESSO: true
from pub med: true

whole genome sequencing
type: Class
subclass of: nucleic acid assay
definition: A genotyping assay that determines the complete DNA sequence of a cell or organism's genome at a single time.
definition editor: PERSON:Matthew Brush
alternative term: complete genome sequencing
alternative term: entire genome sequencing
alternative term: full genome sequencing
alternative term: whole genome sequence analysis
definition source: http://en.wikipedia.org/wiki/Whole_genome_sequencing
imported from: ero.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29722352
comment: Includes chromosomal and mitochondiral genomes, and chloroplast genomes in plants.
from pub med: true

functional magnetic resonance imaging
type: Class
subclass of: magnetic resonance imaging
definition: 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.
definition editor: PERSON:Tenille Johnson
alternative term: fMRI
alternative term: functional MRI
definition source: http://en.wikipedia.org/wiki/Functional_magnetic_resonance_imaging
imported from: ero.owl
from ESSO: true

blood test
type: Class
subclass of: assay
definition: a laboratory test that has a blood specimen as specified input
definition editor: John Judkins
alternative term: Blood test
definition source: EuPathDB
imported from: eupath.owl
from article: true

Broca's area
type: Class
subclass of: cerebral cortex
imported from: fma.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/22554135
has_obo_namespace: fma
id: FMA:242176
from ESSO: true
from pub med: true

Supracalcarine cortex (SCAL)
type: Class
subclass of: cerebral cortex
imported from: fma.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/17855377
alternative_term: Supracalacrine
has_obo_namespace: fma
id: FMA:71055
from ESSO: true
from pub med: true

system process
type: Class
subclass of: multicellular organismal process
definition: 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.
imported from: go.owl
alternative_term: organ system process
has_obo_namespace: biological_process
id: GO:0003008

muscle system process
type: Class
subclass of: system process
definition: A organ system process carried out at the level of a muscle. Muscle tissue is composed of contractile cells or fibers.
imported from: go.owl
has_obo_namespace: biological_process
has_related_synonym: muscle physiological process
id: GO:0003012

muscle contraction
type: Class
subclass of: muscle system process
definition: 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.
imported from: go.owl
database_cross_reference: MIPS_funcat:36.25.09
database_cross_reference: Wikipedia:Muscle_contraction
has_obo_namespace: biological_process
id: GO:0006936
in subset: goslim pir
from ESSO: true

signal transduction
type: Class
subclass of: cellular process
definition: 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.
imported from: go.owl
has_alternative_id: GO:0023033
database_cross_reference: MIPS_funcat:30
database_cross_reference: Wikipedia:Signal_transduction
has_narrow_synonym: signaling cascade
has_narrow_synonym: signalling cascade
has_obo_namespace: biological_process
has_related_synonym: signaling pathway
has_related_synonym: signalling pathway
id: GO:0007165
in subset: goslim aspergillus
in subset: goslim candida
in subset: goslim chembl
in subset: goslim generic
in subset: goslim metagenomics
in subset: goslim plant
comment: 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.

G protein-coupled receptor signaling pathway
type: Class
subclass of: signal transduction
definition: 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.
imported from: go.owl
has_alternative_id: GO:0038042
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26721354
database_cross_reference: MIPS_funcat:30.01.05.05
database_cross_reference: MIPS_funcat:30.05.02.24
alternative_term: G protein coupled receptor protein signaling pathway
alternative_term: G protein coupled receptor protein signalling pathway
alternative_term: G-protein coupled receptor protein signal transduction
alternative_term: G-protein coupled receptor protein signaling pathway
alternative_term: G-protein coupled receptor signalling pathway
alternative_term: G-protein-coupled receptor protein signalling pathway
alternative_term: GPCR signaling pathway
alternative_term: GPCR signalling pathway
has_narrow_synonym: G-protein coupled receptor signaling pathway via GPCR dimer
has_narrow_synonym: dimeric G-protein coupled receptor signaling pathway
has_narrow_synonym: dimeric G-protein coupled receptor signalling pathway
has_obo_namespace: biological_process
id: GO:0007186
in subset: goslim drosophila
from pub med: true

behavior
type: Class
subclass of: bodily process
definition: 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.
imported from: go.owl
imported from: mfomd.owl
created_by: janelomax
creation_date: 2012-09-20T14:06:08Z
has_alternative_id: GO:0023032
has_alternative_id: GO:0044708
has_alternative_id: GO:0044709
database_cross_reference: Wikipedia:Behavior
alternative_term: behavioral response to stimulus
alternative_term: behaviour
alternative_term: behavioural response to stimulus
has_obo_namespace: biological_process
has_related_synonym: single-organism behavior
id: GO:0007610
in subset: gocheck do not manually annotate
in subset: goslim agr
in subset: goslim flybase ribbon
comment: 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).

memory
type: Class
subclass of: mental disposition
definition: 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).
imported from: go.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28089585
database_cross_reference: Wikipedia:Memory
has_obo_namespace: biological_process
id: GO:0007613
from ESSO: true
from pub med: true

biological_process
type: Class
subclass of: process
editor preferred label: biological_process
definition: 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.
imported from: go.owl
imported from: nbo.owl
imported from: obi.owl
created_by: janelomax
creation_date: 2012-09-19T15:05:24Z
has_alternative_id: GO:0000004
has_alternative_id: GO:0007582
has_alternative_id: GO:0044699
database_cross_reference: Wikipedia:Biological_process
alternative_term: biological process
alternative_term: physiological process
has_obo_namespace: biological_process
has_related_synonym: single organism process
has_related_synonym: single-organism process
id: GO:0008150
in subset: goslim aspergillus
in subset: goslim candida
in subset: goslim chembl
in subset: goslim generic
in subset: goslim metagenomics
in subset: goslim pir
in subset: goslim plant
in subset: goslim pombe
in subset: goslim yeast
comment: 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.

cellular process
type: Class
subclass of: biological_process
subclass of: Restriction
  on property: isCellularProcessFor
  some values from: epilepsy
definition: 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.
imported from: go.owl
created_by: janelomax
creation_date: 2012-12-11T16:56:55Z
has_alternative_id: GO:0008151
has_alternative_id: GO:0044763
has_alternative_id: GO:0050875
alternative_term: cell physiology
alternative_term: cellular physiological process
has_narrow_synonym: cell growth and/or maintenance
has_obo_namespace: biological_process
has_related_synonym: single-organism cellular process
id: GO:0009987
in subset: goslim plant

Wnt signaling pathway
type: Class
subclass of: signal transduction
definition: 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.
imported from: go.owl
has_alternative_id: GO:0007222
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/18976727
database_cross_reference: MIPS_funcat:30.05.02.20
alternative_term: Wg signaling pathway
alternative_term: Wg signalling pathway
alternative_term: Wingless signaling pathway
alternative_term: Wingless signalling pathway
alternative_term: Wnt receptor signaling pathway
alternative_term: Wnt receptor signalling pathway
alternative_term: frizzled signaling pathway
alternative_term: frizzled signalling pathway
has_obo_namespace: biological_process
has_related_synonym: Wnt-activated signaling pathway
id: GO:0016055
from pub med: true

reproductive process
type: Class
subclass of: biological_process
definition: 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.
imported from: go.owl
created_by: janelomax
creation_date: 2012-09-19T15:56:06Z
has_alternative_id: GO:0044702
has_obo_namespace: biological_process
has_related_synonym: single organism reproductive process
id: GO:0022414

digestive system process
type: Class
subclass of: system process
definition: 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.
imported from: go.owl
has_obo_namespace: biological_process
id: GO:0022600

menstrual cycle phase
type: Class
subclass of: trigger factor for seizure
definition: 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.
imported from: go.owl
has_obo_namespace: biological_process
id: GO:0022601
in subset: gocheck do not annotate

multicellular organismal process
type: Class
subclass of: biological_process
definition: Any biological process, occurring at the level of a multicellular organism, pertinent to its function.
imported from: go.owl
RO_0002161: NCBITaxon 4896
RO_0002161: NCBITaxon 4932
created_by: janelomax
creation_date: 2012-09-19T16:07:47Z
has_alternative_id: GO:0044707
has_alternative_id: GO:0050874
alternative_term: organismal physiological process
has_obo_namespace: biological_process
has_related_synonym: single-multicellular organism process
id: GO:0032501
in subset: goslim pir

menstruation
type: Class
subclass of: menstrual cycle phase
definition: The cyclic, physiologic discharge through the vagina of blood and endometrial tissues from the nonpregnant uterus.
imported from: go.owl
database_cross_reference: Wikipedia:Menstruation
has_obo_namespace: biological_process
id: GO:0042703
in subset: gocheck do not annotate
from ESSO: true

penile erection
type: Class
subclass of: multicellular organismal reproductive process
definition: 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.
imported from: go.owl
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK2605/
database_cross_reference: Wikipedia:Erection#Penile_erection
has_obo_namespace: biological_process
id: GO:0043084
from NCBI book: true

multicellular organismal reproductive process
type: Class
subclass of: reproductive process
definition: 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.
imported from: go.owl
has_broad_synonym: organismal reproductive process
alternative_term: reproductive process in a multicellular organism
has_obo_namespace: biological_process
id: GO:0048609

crying behavior
type: Class
subclass of: behavior
definition: The behavior in which an organism sheds tears, often accompanied by non-verbal vocalizations and in response to external or internal stimuli.
imported from: go.owl
imported from: mfomd.owl
has_related_synonym: cry
from article: true
from ESSO: true

mastication
type: Class
subclass of: digestive system process
definition: The process of biting and mashing food with the teeth prior to swallowing.
imported from: go.owl
created_by: midori
creation_date: 2010-02-10T11:19:48Z
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/2782045
alternative_term: chewing
has_obo_namespace: biological_process
id: GO:0071626
from ESSO: true
from pub med: true

intrinsic apoptotic signaling pathway
type: Class
subclass of: signal transduction
definition: 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).
imported from: go.owl
created_by: paola
creation_date: 2011-11-23T09:40:50Z
has_alternative_id: GO:0008629
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/17371290
alternative_term: intrinsic apoptotic pathway
alternative_term: intrinsic apoptotic signalling pathway
alternative_term: mitochondrial-mediated apoptotic pathway
has_narrow_synonym: intrinsic apoptosis
has_obo_namespace: biological_process
has_related_synonym: induction of apoptosis by intracellular signals
id: GO:0097193
comment: 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.
from pub med: true

Functional abnormality of the bladder
type: Class
subclass of: Abnormality of the bladder
definition: Dysfunction of the urinary bladder.
imported from: hp.owl
has_alternative_id: HP:0004424
has_alternative_id: HP:0008731
database_cross_reference: UMLS:C3806583
alternative_term: Poor bladder function
has_obo_namespace: human_phenotype
id: HP:0000009

Abnormality of the bladder
type: Class
subclass of: Abnormality of the lower urinary tract
definition: An abnormality of the urinary bladder.
imported from: hp.owl
database_cross_reference: UMLS:C0149632
has_obo_namespace: human_phenotype
id: HP:0000014

Abnormality of the urinary system
type: Class
subclass of: Abnormality of the genitourinary system
definition: An abnormality of the urinary system.
imported from: hp.owl
database_cross_reference: UMLS:C4021821
alternative_term: Urinary tract abnormalities
alternative_term: Urinary tract abnormality
alternative_term: Urinary tract anomalies
has_obo_namespace: human_phenotype
id: HP:0000079

Phenotypic abnormality
type: Class
subclass of: quality
definition: A phenotypic abnormality.
imported from: hp.owl
imported from: mondo.owl
database_cross_reference: UMLS:C4021819
alternative_term: Organ abnormality
has_obo_namespace: human_phenotype
id: HP:0000118
comment: This is the root of the phenotypic abnormality subontology of the HPO.

Abnormality of the genitourinary system
type: Class
subclass of: Phenotypic abnormality
definition: The presence of any abnormality of the genitourinary system.
imported from: hp.owl
has_alternative_id: HP:0008658
has_alternative_id: HP:0008688
has_alternative_id: HP:0008704
has_alternative_id: HP:0008713
database_cross_reference: MSH:D014564
database_cross_reference: SNOMEDCT_US:287085006
database_cross_reference: SNOMEDCT_US:42030000
database_cross_reference: UMLS:C0042063
database_cross_reference: UMLS:C0080276
database_cross_reference: UMLS:C4020895
alternative_term: Abnormality of the GU system
alternative_term: Genitourinary abnormality
alternative_term: Genitourinary tract anomalies
alternative_term: Genitourinary tract malformation
alternative_term: Urogenital abnormalities
alternative_term: Urogenital anomalies
has_obo_namespace: human_phenotype
has_related_synonym: Genitourinary disease
has_related_synonym: Genitourinary dysplasia
id: HP:0000119

Abnormality of head or neck
type: Class
subclass of: Phenotypic abnormality
definition: An abnormality of head and neck.
imported from: hp.owl
database_cross_reference: UMLS:C4021817
alternative_term: Abnormality of head or neck
alternative_term: Head and neck abnormality
has_obo_namespace: human_phenotype
id: HP:0000152

Abnormality of the mouth
type: Class
subclass of: Abnormality of the face
definition: An abnormality of the mouth.
imported from: hp.owl
database_cross_reference: MSH:D009056
database_cross_reference: SNOMEDCT_US:128334002
database_cross_reference: UMLS:C0026633
alternative_term: Abnormal mouth
alternative_term: Abnormality of the mouth
has_obo_namespace: human_phenotype
id: HP:0000153
in subset: hposlim core

Abnormality of the head
type: Class
subclass of: Abnormality of head or neck
definition: An abnormality of the head.
imported from: hp.owl
database_cross_reference: UMLS:C4021812
alternative_term: Abnormal head
alternative_term: Abnormality of the head
alternative_term: Head abnormality
has_obo_namespace: human_phenotype
id: HP:0000234

Abnormality of the face
type: Class
subclass of: Abnormality of the head
definition: An abnormality of the face.
imported from: hp.owl
has_broad_synonym: Abnormality of the countenance
has_broad_synonym: Abnormality of the physiognomy
has_broad_synonym: Abnormality of the visage
has_broad_synonym: Disorder of face
database_cross_reference: SNOMEDCT_US:118930001
database_cross_reference: SNOMEDCT_US:32003007
database_cross_reference: SNOMEDCT_US:398206004
database_cross_reference: SNOMEDCT_US:398302004
database_cross_reference: UMLS:C0266617
database_cross_reference: UMLS:C1290857
database_cross_reference: UMLS:C4025871
alternative_term: Abnormal face
alternative_term: Abnormality of the face
alternative_term: Facial abnormality
has_narrow_synonym: Disorder of the face
has_obo_namespace: human_phenotype
has_related_synonym: Anomaly of face
has_related_synonym: Anomaly of the face
has_related_synonym: Facial anomaly
id: HP:0000271
in subset: hposlim core

Abnormality of facial musculature
type: Class
subclass of: Abnormality of facial soft tissue
subclass of: Abnormal skeletal muscle morphology
definition: An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve).
imported from: hp.owl
database_cross_reference: UMLS:C4025865
alternative_term: Abnormality of facial muscles
alternative_term: Facial muscle issue
has_obo_namespace: human_phenotype
id: HP:0000301
comment: 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 the orbital region
type: Class
subclass of: Abnormality of the face
imported from: hp.owl
has_alternative_id: HP:0000284
database_cross_reference: UMLS:C4025863
alternative_term: Abnormality of the eye region
alternative_term: Abnormality of the region around the eyes
has_narrow_synonym: Anomaly of the orbital region of the face
has_narrow_synonym: Deformity of the orbital region of the face
has_narrow_synonym: Malformation of the orbital region of the face
has_obo_namespace: human_phenotype
id: HP:0000315

Facial myokymia
type: Class
subclass of: Abnormality of facial musculature
subclass of: Myokymia
definition: Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
imported from: hp.owl
has_alternative_id: HP:0004651
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29961525
database_cross_reference: MSH:D005155
database_cross_reference: SNOMEDCT_US:1070000
database_cross_reference: UMLS:C0270871
alternative_term: Involuntary facial contraction
alternative_term: Involuntary facial quivering
has_obo_namespace: human_phenotype
id: HP:0000317
comment: Facial myokymia may be caused by a plaque of multiple sclerosis or have other causes.
from ESSO: true
from pub med: true

Hearing abnormality
type: Class
subclass of: Abnormal ear physiology
definition: An abnormality of the sensory perception of sound.
imported from: hp.owl
database_cross_reference: UMLS:C4025860
alternative_term: Abnormal hearing
alternative_term: Hearing abnormality
has_obo_namespace: human_phenotype
id: HP:0000364
comment: 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 impairment
type: Class
subclass of: Hearing abnormality
definition: A decreased magnitude of the sensory perception of sound.
imported from: hp.owl
has_alternative_id: HP:0000404
has_alternative_id: HP:0001728
has_alternative_id: HP:0001729
has_alternative_id: HP:0001754
has_alternative_id: HP:0008560
has_alternative_id: HP:0008563
database_cross_reference: Fyler:4868
database_cross_reference: MSH:D003638
database_cross_reference: MSH:D034381
database_cross_reference: SNOMEDCT_US:103276001
database_cross_reference: SNOMEDCT_US:15188001
database_cross_reference: SNOMEDCT_US:343087000
database_cross_reference: SNOMEDCT_US:95828007
database_cross_reference: UMLS:C0011053
database_cross_reference: UMLS:C0018772
database_cross_reference: UMLS:C0339789
database_cross_reference: UMLS:C1384666
alternative_term: Congenital deafness
alternative_term: Congenital hearing loss
alternative_term: Deafness
alternative_term: Hearing defect
alternative_term: Hearing impairment
has_obo_namespace: human_phenotype
has_related_synonym: Hearing loss
has_related_synonym: Hypoacusis
id: HP:0000365
comment: 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.
from article: true

Abnormality of the eye
type: Class
subclass of: Phenotypic abnormality
definition: Any abnormality of the eye, including location, spacing, and intraocular abnormalities.
imported from: hp.owl
database_cross_reference: MSH:D005124
database_cross_reference: MSH:D005128
database_cross_reference: SNOMEDCT_US:19416009
database_cross_reference: SNOMEDCT_US:371405004
database_cross_reference: SNOMEDCT_US:371409005
database_cross_reference: UMLS:C0015393
database_cross_reference: UMLS:C0015397
alternative_term: Abnormal eye
alternative_term: Abnormality of the eye
has_obo_namespace: human_phenotype
has_related_synonym: Eye disease
id: HP:0000478
in subset: hposlim core

Abnormality of eye movement
type: Class
subclass of: Abnormal eye physiology
definition: An abnormality in voluntary or involuntary eye movements or their control.
imported from: hp.owl
has_alternative_id: HP:0006860
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/12365699
database_cross_reference: SNOMEDCT_US:103252009
database_cross_reference: UMLS:C0497202
alternative_term: Abnormal extraocular movement
alternative_term: Abnormal extraocular movements
alternative_term: Abnormal eye motility
alternative_term: Abnormal eye movement
alternative_term: Abnormal eye movements
alternative_term: Abnormal motility of the globe of the eye
alternative_term: Abnormal movement of the globe of the eye
alternative_term: Abnormal ocular movements
alternative_term: Abnormality of eye movement
alternative_term: Eye movement abnormalities
alternative_term: Eye movement issue
alternative_term: Ocular movement abnormalities
alternative_term: Oculomotor abnormalities
has_obo_namespace: human_phenotype
id: HP:0000496
in subset: hposlim core
from pub med: true

Abnormality of vision
type: Class
subclass of: Abnormal eye physiology
definition: Abnormality of eyesight (visual perception).
imported from: hp.owl
database_cross_reference: UMLS:C4025846
alternative_term: Abnormality of sight
alternative_term: Abnormality of vision
alternative_term: Vision issue
has_obo_namespace: human_phenotype
id: HP:0000504
in subset: hposlim core

Visual impairment
type: Class
subclass of: Abnormality of vision
definition: 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.
imported from: hp.owl
has_alternative_id: HP:0000516
has_alternative_id: HP:0000566
has_alternative_id: HP:0007758
has_alternative_id: HP:0007860
has_alternative_id: HP:0007983
database_cross_reference: MSH:D014786
database_cross_reference: MSH:D015354
database_cross_reference: SNOMEDCT_US:246635007
database_cross_reference: SNOMEDCT_US:397540003
database_cross_reference: SNOMEDCT_US:7973008
database_cross_reference: UMLS:C0042798
database_cross_reference: UMLS:C3665347
alternative_term: Impaired vision
alternative_term: Loss of eyesight
alternative_term: Poor vision
alternative_term: Visual impairment
has_obo_namespace: human_phenotype
id: HP:0000505
in subset: hposlim core

Abnormal conjugate eye movement
type: Class
subclass of: Abnormality of eye movement
definition: Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object.
imported from: hp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/
database_cross_reference: UMLS:C1845274
alternative_term: Disconjugate eye movements
has_obo_namespace: human_phenotype
id: HP:0000549
from ESSO: true
from pub med: true

Abnormal saccadic eye movements
type: Class
subclass of: Abnormality of eye movement
definition: An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements.
imported from: hp.owl
has_alternative_id: HP:0000604
database_cross_reference: UMLS:C1842584
database_cross_reference: UMLS:C4025841
alternative_term: Abnormality of saccadic eye movements
has_obo_namespace: human_phenotype
has_related_synonym: Impaired saccades
id: HP:0000570
comment: Fast (saccadic) eye movements comprise voluntary or involuntary refixation movements, the fast phase of vestibular nystagmus, optokinetic nystagmus, and microsaccades.
from ESSO: true

Hypometric saccades
type: Class
subclass of: Abnormal saccadic eye movements
definition: Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.
imported from: hp.owl
database_cross_reference: SNOMEDCT_US:246768008
database_cross_reference: UMLS:C0423082
has_obo_namespace: human_phenotype
id: HP:0000571

Abnormality of the ear
type: Class
subclass of: Phenotypic abnormality
definition: An abnormality of the ear.
imported from: hp.owl
database_cross_reference: SNOMEDCT_US:275259005
database_cross_reference: UMLS:C0266589
alternative_term: Abnormality of the ear
alternative_term: Ear anomaly
has_obo_namespace: human_phenotype
id: HP:0000598
in subset: hposlim core
comment: Either a morphological abnormality or hearing deficit. This should be split more cleanly in the future.

Abnormality of the nervous system
type: Class
subclass of: Phenotypic abnormality
definition: An abnormality of the nervous system.
imported from: hp.owl
has_alternative_id: HP:0001333
has_alternative_id: HP:0006987
has_broad_synonym: Brain and/or spinal cord issue
database_cross_reference: MSH:D009421
database_cross_reference: SNOMEDCT_US:88425004
database_cross_reference: UMLS:C0497552
alternative_term: Abnormality of the nervous system
alternative_term: Neurologic abnormalities
alternative_term: Neurological abnormality
has_obo_namespace: human_phenotype
id: HP:0000707
comment: The nervous system comprises the neuraxis (brain, spinal cord, and ventricles), the autonomic nervous system, the enteric nervous system, and the peripheral nervous system.

Behavioral abnormality
type: Class
subclass of: Abnormality of nervous system physiology
definition: An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.
imported from: hp.owl
has_alternative_id: HP:0000715
has_alternative_id: HP:0002368
has_alternative_id: HP:0002456
database_cross_reference: MSH:D000066553
database_cross_reference: MSH:D001526
database_cross_reference: SNOMEDCT_US:25786006
database_cross_reference: SNOMEDCT_US:277843001
database_cross_reference: UMLS:C0004941
database_cross_reference: UMLS:C0233514
alternative_term: Behavioral abnormality
alternative_term: Behavioral changes
alternative_term: Behavioral disorders
alternative_term: Behavioral disturbances
alternative_term: Behavioral problems
alternative_term: Behavioral/psychiatric abnormalities
alternative_term: Behavioural abnormality
alternative_term: Behavioural/Psychiatric abnormality
alternative_term: Psychiatric disorders
alternative_term: Psychiatric disturbances
has_obo_namespace: human_phenotype
has_related_synonym: Behavioral symptoms
id: HP:0000708

Emotional lability
type: Class
subclass of: Impairment in personality functioning
definition: Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or out of proportion to events and circumstances.
imported from: hp.owl
has_alternative_id: HP:0008766
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/8441366
database_cross_reference: SNOMEDCT_US:18963009
database_cross_reference: UMLS:C0085633
alternative_term: Emotional instability
has_obo_namespace: human_phenotype
id: HP:0000712
from pub med: true

Depressivity
type: Class
subclass of: Impairment in personality functioning
definition: 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.
imported from: hp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/17260039
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/20301709
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28139515
database_cross_reference: MSH:D003866
database_cross_reference: SNOMEDCT_US:21061000119107
database_cross_reference: SNOMEDCT_US:35489007
database_cross_reference: SNOMEDCT_US:78667006
database_cross_reference: UMLS:C0011581
alternative_term: Depression
has_obo_namespace: human_phenotype
has_related_synonym: Depressive disorder
id: HP:0000716
from ESSO: true
from pub med: true

Stereotypy
type: Class
subclass of: rare paroxysmal movement disorder
definition: 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.
imported from: hp.owl
has_alternative_id: HP:0008758
has_alternative_id: HP:0008759
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29791879
database_cross_reference: MSH:D013239
database_cross_reference: MSH:D019956
database_cross_reference: SNOMEDCT_US:5507002
database_cross_reference: SNOMEDCT_US:84328007
database_cross_reference: UMLS:C0038271
database_cross_reference: UMLS:C0038273
has definition: 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).
alternative_term: Repetitive movements
alternative_term: Repetitive or self-injurious behavior
alternative_term: Stereotyped behavior
alternative_term: Stereotyped, repetitive behaviour
alternative_term: Stereotypic behavior
alternative_term: Stereotypic behaviors
alternative_term: Stereotypical motor behaviors
alternative_term: Sterotyped behavior
has_obo_namespace: human_phenotype
has_related_synonym: Stereotyped behaviors
id: HP:0000733
comment: 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.
from ILAE: true
from pub med: true

Axiom
annotated source: Stereotypy
annotated property: hasDefinition
annotated target: 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).

Enuresis
type: Class
subclass of: Functional abnormality of the bladder
definition: 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.
imported from: hp.owl
database_cross_reference: MSH:D004775
database_cross_reference: SNOMEDCT_US:8009008
database_cross_reference: UMLS:C0014394
has_obo_namespace: human_phenotype
id: HP:0000805

Abnormality of the endocrine system
type: Class
subclass of: Phenotypic abnormality
definition: An abnormality of the endocrine system.
imported from: mondo.owl
database_cross_reference: MSH:D004700
database_cross_reference: SNOMEDCT_US:362969004
database_cross_reference: UMLS:C0014130
database_cross_reference: UMLS:C4025823
has_obo_namespace: human_phenotype
has_related_synonym: Endocrine system disease
id: HP:0000818
comment: 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.

Precocious puberty
type: Class
subclass of: Early onset of sexual maturation
definition: 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.
imported from: mondo.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/13365719
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30838190
database_cross_reference: MSH:D011629
database_cross_reference: SNOMEDCT_US:123527003
database_cross_reference: SNOMEDCT_US:400179000
database_cross_reference: UMLS:C0034013
alternative_term: Early onset of puberty
alternative_term: Early puberty
has_obo_namespace: human_phenotype
id: HP:0000826
from ESSO: true
from pub med: true

Abnormality of the skeletal system
type: Class
subclass of: Phenotypic abnormality
definition: An abnormality of the skeletal system.
imported from: hp.owl
database_cross_reference: UMLS:C4021790
alternative_term: Abnormality of the skeletal system
alternative_term: Skeletal abnormalities
alternative_term: Skeletal anomalies
has_obo_namespace: human_phenotype
id: HP:0000924

Abnormality of the skin
type: Class
subclass of: Abnormality of the integument
definition: An abnormality of the skin.
imported from: hp.owl
has_alternative_id: HP:0001478
has_alternative_id: HP:0001479
has_alternative_id: HP:0005591
has_alternative_id: HP:0006736
has_alternative_id: HP:0007415
has_alternative_id: HP:0007580
database_cross_reference: MSH:D012868
database_cross_reference: MSH:D012871
database_cross_reference: SNOMEDCT_US:199879009
database_cross_reference: SNOMEDCT_US:95320005
database_cross_reference: UMLS:C0037268
database_cross_reference: UMLS:C0037274
alternative_term: Abnormality of the skin
alternative_term: dermatopathy
alternative_term: dermopathy
has_obo_namespace: human_phenotype
has_related_synonym: Skin abnormality
id: HP:0000951
in subset: hposlim core

Facial erythema
type: Class
subclass of: Erythema
definition: Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin.
imported from: hp.owl
has_alternative_id: HP:0001068
database_cross_reference: MSH:D001821
database_cross_reference: MSH:D012393
database_cross_reference: SNOMEDCT_US:20255002
database_cross_reference: SNOMEDCT_US:271811009
database_cross_reference: SNOMEDCT_US:398909004
database_cross_reference: UMLS:C0005874
database_cross_reference: UMLS:C0035854
database_cross_reference: UMLS:C0239488
database_cross_reference: UMLS:C4020880
alternative_term: Blushed cheeks
alternative_term: Blushing
alternative_term: Red face
alternative_term: Red in the face
has_narrow_synonym: Rosacea
has_obo_namespace: human_phenotype
has_related_synonym: Ruddy face
id: HP:0001041
from article: true

Visual field defect
type: Class
subclass of: Visual impairment
imported from: hp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29172092
database_cross_reference: SNOMEDCT_US:12184005
database_cross_reference: UMLS:C3887875
alternative_term: Partial loss of field of vision
alternative_term: Visual field defects
has_obo_namespace: human_phenotype
id: HP:0001123
from pub med: true

Hemiparesis
type: Class
subclass of: Hemiplegia/hemiparesis
definition: 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.
imported from: hp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/31603835
database_cross_reference: MSH:D010291
database_cross_reference: SNOMEDCT_US:127377003
database_cross_reference: SNOMEDCT_US:20022000
database_cross_reference: UMLS:C0018989
alternative_term: Weakness of one side of body
has_obo_namespace: human_phenotype
id: HP:0001269
from ESSO: true
from pub med: true

Hypertonia
type: Class
subclass of: Upper motor neuron dysfunction
subclass of: Abnormal muscle tone
definition: A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
imported from: hp.owl
has_alternative_id: HP:0002388
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/27188686
database_cross_reference: MSH:D009122
database_cross_reference: SNOMEDCT_US:41581000
database_cross_reference: SNOMEDCT_US:56731001
database_cross_reference: UMLS:C0026826
alternative_term: Hypertonicity
alternative_term: Increased muscle tone
has_narrow_synonym: Spasticity and rigidity of muscles
has_obo_namespace: human_phenotype
has_related_synonym: Muscle hypertonia
id: HP:0001276
comment: 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.
from ESSO: true
from pub med: true

Syncope
type: Class
subclass of: epilepsy imitator
definition: 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.
imported from: hp.owl
created_by: peter
creation_date: 2008-02-25T10:37:00Z
database_cross_reference: MSH:D013575
database_cross_reference: SNOMEDCT_US:271594007
database_cross_reference: SNOMEDCT_US:272030005
database_cross_reference: SNOMEDCT_US:309585006
database_cross_reference: UMLS:C0039070
alternative_term: Fainting spell
has_obo_namespace: human_phenotype
has_related_synonym: Syncope and anoxic seizures
id: HP:0001279
from ILAE: true

Abnormal nervous system electrophysiology
type: Class
subclass of: Abnormality of nervous system physiology
definition: 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.
imported from: hp.owl
has_alternative_id: HP:0002531
has_alternative_id: HP:0003129
database_cross_reference: UMLS:C4021781
alternative_term: Neurophysiologic abnormalities
alternative_term: Neurophysiologic abnormality
has_obo_namespace: human_phenotype
has_related_synonym: Electrophysiological Data
id: HP:0001311

Myoclonus
type: Class
subclass of: Involuntary movements
definition: Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
imported from: hp.owl
has_alternative_id: HP:0002535
has_alternative_id: HP:0007087
has_broad_synonym: Jerking
database_cross_reference: MSH:D009207
database_cross_reference: SNOMEDCT_US:127324008
database_cross_reference: SNOMEDCT_US:17450006
database_cross_reference: UMLS:C0027066
database_cross_reference: UMLS:C1854302
alternative_term: Myoclonic jerks
alternative_term: myoclonic contraction
alternative_term: myoclonic jerk
has_obo_namespace: human_phenotype
has_related_synonym: Involuntary jerking movements
id: HP:0001336
comment: 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).
from ESSO: true

Cerebral hemorrhage
type: Class
subclass of: Abnormal cardiovascular system physiology
definition: Hemorrhage into the parenchyma of the brain.
imported from: hp.owl
has_alternative_id: HP:0002137
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/2761703
database_cross_reference: MSH:D002543
database_cross_reference: MSH:D020300
database_cross_reference: SNOMEDCT_US:230706003
database_cross_reference: SNOMEDCT_US:274100004
database_cross_reference: UMLS:C0553692
database_cross_reference: UMLS:C2937358
alternative_term: Bleeding in brain
alternative_term: Cerebral haemorrhage
alternative_term: Intracerebral hemorrhage
has_obo_namespace: human_phenotype
has_related_synonym: Hemorrhagic stroke
id: HP:0001342
comment: A cerebral hemorrhage (or intracerebral hemorrhage, ICH), is a type of intracranial hemorrhage that occurs within the brain tissue itself.
from pub med: true

Flexion contracture
type: Class
subclass of: Abnormality of connective tissue
subclass of: Abnormality of joint mobility
subclass of: Abnormal skeletal muscle morphology
subclass of: Abnormal tendon morphology
definition: 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.
imported from: hp.owl
has_alternative_id: HP:0001372
has_alternative_id: HP:0001381
has_alternative_id: HP:0005053
has_alternative_id: HP:0005189
has_alternative_id: HP:0005660
database_cross_reference: MSH:D003286
database_cross_reference: SNOMEDCT_US:203598005
database_cross_reference: SNOMEDCT_US:385522000
database_cross_reference: SNOMEDCT_US:55033002
database_cross_reference: SNOMEDCT_US:57048009
database_cross_reference: SNOMEDCT_US:7890003
database_cross_reference: SNOMEDCT_US:88565003
database_cross_reference: UMLS:C0009917
database_cross_reference: UMLS:C0009918
database_cross_reference: UMLS:C0333068
database_cross_reference: UMLS:C1850530
alternative_term: Contracture
alternative_term: Flexed joint that cannot be straightened
alternative_term: Flexion contractures
alternative_term: Flexion contractures of joints
alternative_term: Joint contracture
alternative_term: Joint contractures
has_obo_namespace: human_phenotype
has_related_synonym: Contractures
id: HP:0001371
from ESSO: true

Growth abnormality
type: Class
subclass of: Phenotypic abnormality
imported from: hp.owl
has_alternative_id: HP:0008904
database_cross_reference: UMLS:C0262361
alternative_term: Abnormal growth
alternative_term: Growth abnormality
alternative_term: Growth issue
has_obo_namespace: human_phenotype
id: HP:0001507

Small for gestational age
type: Class
subclass of: Decreased body weight
definition: Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
imported from: hp.owl
has_alternative_id: HP:0001422
has_alternative_id: HP:0008849
has_alternative_id: HP:0008919
has_alternative_id: HP:0008927
database_cross_reference: MSH:D007230
database_cross_reference: SNOMEDCT_US:267258002
database_cross_reference: SNOMEDCT_US:276610007
database_cross_reference: UMLS:C0024032
database_cross_reference: UMLS:C0235991
alternative_term: Birth weight less than 10th percentile
alternative_term: Low birth weight
alternative_term: Small for gestational age
has_obo_namespace: human_phenotype
id: HP:0001518
from article: true

Abnormality of the integument
type: Class
subclass of: Phenotypic abnormality
definition: An abnormality of the integument, which consists of the skin and the superficial fascia.
imported from: hp.owl
database_cross_reference: UMLS:C4025761
has_obo_namespace: human_phenotype
id: HP:0001574
comment: Abnormality of skin, hair, or nails.

Abnormality of the cardiovascular system
type: Class
subclass of: Phenotypic abnormality
definition: Any abnormality of the cardiovascular system.
imported from: hp.owl
database_cross_reference: MSH:D002318
database_cross_reference: MSH:D018376
database_cross_reference: SNOMEDCT_US:49601007
database_cross_reference: UMLS:C0007222
database_cross_reference: UMLS:C0243050
alternative_term: Abnormality of the cardiovascular system
alternative_term: Cardiovascular abnormality
has_obo_namespace: human_phenotype
has_related_synonym: Cardiovascular disease
id: HP:0001626
comment: The cardiovascular system consists of the heart, vasculature, and the lymphatic system.

Abnormality of blood and blood-forming tissues
type: Class
subclass of: Phenotypic abnormality
definition: An abnormality of the hematopoietic system.
imported from: hp.owl
has_alternative_id: HP:0003135
database_cross_reference: MSH:D006402
database_cross_reference: SNOMEDCT_US:191124002
database_cross_reference: SNOMEDCT_US:34093004
database_cross_reference: UMLS:C0018939
database_cross_reference: UMLS:C0850715
database_cross_reference: UMLS:C4020864
alternative_term: Abnormality of blood and blood-forming tissues
alternative_term: Abnormality of the hematopoietic system
alternative_term: Hematological abnormality
has_obo_namespace: human_phenotype
has_related_synonym: Abnormality of the haematopoietic system
has_related_synonym: Hematologic disease
id: HP:0001871
comment: The hematopoietic system comprises the organs that are involved in the production of blood, primarily the bone marrow, spleen, tonsils, and lymph nodes.

Abnormal bleeding
type: Class
subclass of: Abnormality of blood and blood-forming tissues
definition: An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
imported from: hp.owl
has_alternative_id: HP:0004830
has_alternative_id: HP:0004834
has_alternative_id: HP:0004849
has_alternative_id: HP:0004862
has_alternative_id: HP:0004865
has_alternative_id: HP:0008183
database_cross_reference: SNOMEDCT_US:248250000
database_cross_reference: SNOMEDCT_US:64779008
database_cross_reference: UMLS:C1458140
alternative_term: Bleeding diathesis
alternative_term: Bleeding tendency
alternative_term: Hemorrhagic diathesis
has_obo_namespace: human_phenotype
id: HP:0001892
comment: 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.

Abnormality of metabolism/homeostasis
type: Class
subclass of: Phenotypic abnormality
imported from: hp.owl
has_alternative_id: HP:0002146
has_alternative_id: HP:0004355
has_alternative_id: HP:0004367
database_cross_reference: UMLS:C4021768
alternative_term: Laboratory abnormality
alternative_term: Metabolism abnormality
has_obo_namespace: human_phenotype
id: HP:0001939

Abnormal thrombosis
type: Class
subclass of: Abnormality of blood and blood-forming tissues
definition: Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).
imported from: hp.owl
database_cross_reference: UMLS:C4025731
alternative_term: Abnormal blood clot
alternative_term: Abnormal blood clotting
has_obo_namespace: human_phenotype
id: HP:0001977

Abnormal facial shape
type: Class
subclass of: Abnormality of the face
definition: An abnormal morphology (form) of the face or its components.
imported from: hp.owl
has_alternative_id: HP:0002004
has_alternative_id: HP:0002260
has_alternative_id: HP:0004643
has_alternative_id: HP:0004649
has_alternative_id: HP:0004652
has_alternative_id: HP:0004655
has_alternative_id: HP:0004675
has_alternative_id: HP:0005124
has_broad_synonym: Deformity of face
has_broad_synonym: Malformation of face
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26864574
database_cross_reference: SNOMEDCT_US:248200007
database_cross_reference: SNOMEDCT_US:32003007
database_cross_reference: SNOMEDCT_US:398206004
database_cross_reference: SNOMEDCT_US:398302004
database_cross_reference: UMLS:C0266617
database_cross_reference: UMLS:C0424503
database_cross_reference: UMLS:C1385263
database_cross_reference: UMLS:C4072832
database_cross_reference: UMLS:C4072833
alternative_term: Abnormal facial shape
alternative_term: Abnormal morphology of the face
alternative_term: Distinctive facies
alternative_term: Dysmorphic facial features
alternative_term: Dysmorphic facies
alternative_term: Facial dysmorphism
alternative_term: Unusual facial appearance
alternative_term: Unusual facies
has_obo_namespace: human_phenotype
has_related_synonym: Distortion of face
has_related_synonym: Funny looking face
id: HP:0001999
in subset: hposlim core
comment: 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.
from article: true
from pub med: true

Morphological abnormality of the central nervous system
type: Class
subclass of: Abnormality of nervous system morphology
definition: A structural abnormality of the central nervous system.
imported from: hp.owl
has_alternative_id: HP:0002405
has_alternative_id: HP:0002413
has_alternative_id: HP:0002481
has_alternative_id: HP:0007319
database_cross_reference: MSH:D002493
database_cross_reference: SNOMEDCT_US:23853001
database_cross_reference: UMLS:C0007682
database_cross_reference: UMLS:C4021765
alternative_term: Abnormality of the central nervous system
alternative_term: Morphological abnormality of the CNS
has_obo_namespace: human_phenotype
has_related_synonym: Central nervous system disease
id: HP:0002011

Vomiting
type: Class
subclass of: Nausea and vomiting
definition: Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
imported from: hp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30118929
database_cross_reference: MEDDRA:10047700
database_cross_reference: MSH:D014839
database_cross_reference: SNOMEDCT_US:249497008
database_cross_reference: SNOMEDCT_US:300359004
database_cross_reference: SNOMEDCT_US:422400008
database_cross_reference: UMLS:C0042963
alternative_term: Emesis
alternative_term: Throwing up
alternative_term: Vomiting
has_obo_namespace: human_phenotype
id: HP:0002013
in subset: hposlim core
from ESSO: true
from pub med: true

Nausea and vomiting
type: Class
subclass of: Abdominal symptom
imported from: hp.owl
database_cross_reference: SNOMEDCT_US:16932000
database_cross_reference: UMLS:C0027498
alternative_term: Nausea and vomiting
has_obo_namespace: human_phenotype
id: HP:0002017

Generalized tonic-clonic seizures
type: Class
subclass of: generalized motor onset seizure
definition: Generalized tonic-clonic seizures are generalized seizures with bilateral symmetrical tonic contraction then bilateral clonic contractions of somatic muscles usually associated with autonomic phenomena.
imported from: hp.owl
has_alternative_id: HP:0001306
has_alternative_id: HP:0002407
has_alternative_id: HP:0007252
database_cross_reference: MSH:D012640
database_cross_reference: SNOMEDCT_US:54200006
database_cross_reference: UMLS:C0494475
has definition: 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.
alternative_term: Generalised tonic-clonic seizures
alternative_term: Generalized clonic-tonic seizures
alternative_term: Generalized tonic clonic seizures
alternative_term: Grand mal seizures
alternative_term: Seizures, generalized tonic-clonic
alternative_term: Seizures, generalized, tonic-clonic
alternative_term: Seizures, tonic-clonic
alternative_term: Tonic-clonic convulsion
alternative_term: Tonic-clonic convulsions
has_obo_namespace: human_phenotype
id: HP:0002069
comment: 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.
from ILAE: true

Axiom
annotated source: Generalized tonic-clonic seizures
annotated property: hasDefinition
annotated target: 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.

Abnormality of the respiratory system
type: Class
subclass of: Phenotypic abnormality
definition: An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.
imported from: hp.owl
database_cross_reference: UMLS:C4018871
alternative_term: Respiratory abnormality
has_obo_namespace: human_phenotype
id: HP:0002086

Generalized myoclonic seizures
type: Class
subclass of: generalized motor onset seizure
definition: 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).
imported from: hp.owl
has_alternative_id: HP:0006869
has_alternative_id: HP:0006902
has_alternative_id: HP:0007075
has_alternative_id: HP:0007202
has_alternative_id: HP:0007284
has_alternative_id: HP:0007294
has_broad_synonym: Myoclonic seizures
database_cross_reference: MSH:D004831
database_cross_reference: MSH:D020191
database_cross_reference: SNOMEDCT_US:192992007
database_cross_reference: SNOMEDCT_US:267581004
database_cross_reference: SNOMEDCT_US:37356005
database_cross_reference: UMLS:C0014550
database_cross_reference: UMLS:C0751778
database_cross_reference: UMLS:C4021759
has definition: 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.
alternative_term: Generalised myoclonic seizures
alternative_term: Myoclonus seizures
has_obo_namespace: human_phenotype
has_related_synonym: Myoclonic epilepsy, progressive
id: HP:0002123
from ILAE: true

Axiom
annotated source: Generalized myoclonic seizures
annotated property: hasDefinition
annotated target: 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.

Polymicrogyria
type: Class
subclass of: Malformations of Cortical Development
definition: Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).
imported from: hp.owl
database_cross_reference: MSH:D065706
database_cross_reference: SNOMEDCT_US:4945003
database_cross_reference: UMLS:C0266464
has definition: 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.
alternative_term: More grooves in brain
has_obo_namespace: human_phenotype
id: HP:0002126
comment: 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.
from ILAE: true

Axiom
annotated source: Polymicrogyria
annotated property: hasDefinition
annotated target: 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.

Status epilepticus
type: Class
subclass of: seizure
definition: 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.
imported from: hp.owl
database_cross_reference: MSH:D013226
database_cross_reference: SNOMEDCT_US:230456007
database_cross_reference: UMLS:C0038220
alternative_term: Repeated seizures without recovery between them
has_obo_namespace: human_phenotype
id: HP:0002133
comment: 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.

Subarachnoid hemorrhage
type: Class
subclass of: Cerebral hemorrhage
definition: Hemorrhage occurring between the arachnoid mater and the pia mater.
imported from: hp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2744032/
database_cross_reference: MSH:D013345
database_cross_reference: SNOMEDCT_US:21454007
database_cross_reference: UMLS:C0038525
alternative_term: Subarachnoid (aneurysmal) Hemorrhage
alternative_term: Subarachnoid haemorrhage
has_obo_namespace: human_phenotype
id: HP:0002138
comment: 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.
from pub med: true

Neurological speech impairment
type: Class
subclass of: Abnormality of higher mental function
imported from: hp.owl
database_cross_reference: MSH:D013064
database_cross_reference: UMLS:C0037822
alternative_term: Speech disorder
alternative_term: Speech impairment
alternative_term: Speech impediment
has_obo_namespace: human_phenotype
id: HP:0002167

Intracranial hemorrhage
type: Class
subclass of: Internal hemorrhage
subclass of: Abnormality of the cerebral vasculature
definition: Hemorrhage occurring within the skull.
imported from: hp.owl
database_cross_reference: MSH:D020300
database_cross_reference: SNOMEDCT_US:1386000
database_cross_reference: UMLS:C0151699
alternative_term: Bleeding within the skull
alternative_term: Intracranial haemorrhage
has_obo_namespace: human_phenotype
id: HP:0002170

Postural instability
type: Class
subclass of: Abnormality of movement
definition: 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.
imported from: hp.owl
database_cross_reference: UMLS:C1843921
alternative_term: Balance impairment
has_obo_namespace: human_phenotype
has_related_synonym: Abnormal retropulsion test
has_related_synonym: Imbalance
id: HP:0002172
from article: true
from ESSO: true

Generalized-onset seizure
type: Class
subclass of: seizure classification
definition: Seizures of with initial involvement of both cerebral hemispheres.
imported from: hp.owl
has_alternative_id: HP:0002409
has_alternative_id: HP:0007114
has_alternative_id: HP:0007339
database_cross_reference: MSH:D012640
database_cross_reference: SNOMEDCT_US:246545002
database_cross_reference: UMLS:C0234533
database_cross_reference: UMLS:C1833488
has definition: 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.
alternative_term: Generalized seizures
alternative_term: Generalized-onset seizures
has_obo_namespace: human_phenotype
id: HP:0002197
comment: Generalized seizures are sub-categorized into several major types: generalized tonic clonic; myoclonic; absence; and atonic.
from ILAE: true

Axiom
annotated source: Generalized-onset seizure
annotated property: hasDefinition
annotated target: 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.

Focal clonic seizure
type: Class
subclass of: Focal motor seizure
definition: A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.
imported from: hp.owl
database_cross_reference: MSH:D020938
database_cross_reference: UMLS:C0752323
has definition: 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.
alternative_term: Focal clonic seizures
alternative_term: Localised clonic seizure
alternative_term: Localized clonic seizure
alternative_term: Partial clonic seizure
alternative_term: Segmental clonic seizure
has_obo_namespace: human_phenotype
id: HP:0002266
comment: 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).
from article: true
from ILAE: true

Axiom
annotated source: Focal clonic seizure
annotated property: hasDefinition
annotated target: 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.

Gray matter heterotopia
type: Class
subclass of: Malformations of Cortical Development
definition: 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.
imported from: hp.owl
has_alternative_id: HP:0002281
has_alternative_id: HP:0007314
database_cross_reference: MSH:D002828
database_cross_reference: SNOMEDCT_US:128490007
database_cross_reference: SNOMEDCT_US:416286003
database_cross_reference: SNOMEDCT_US:417338002
database_cross_reference: UMLS:C0008519
has definition: 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.
alternative_term: Gray matter heterotopias
alternative_term: Grey matter heterotopia
alternative_term: Heterotopia
alternative_term: Heterotopias
alternative_term: Neuronal heterotopia
has_obo_namespace: human_phenotype
id: HP:0002282
comment: 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.
from ILAE: true

Axiom
annotated source: Gray matter heterotopia
annotated property: hasDefinition
annotated target: 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.

Drooling
type: Class
subclass of: Behavioral abnormality
subclass of: Excessive salivation
definition: Habitual flow of saliva out of the mouth.
imported from: hp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30125861
database_cross_reference: MSH:D012798
database_cross_reference: SNOMEDCT_US:275295002
database_cross_reference: SNOMEDCT_US:53827007
database_cross_reference: SNOMEDCT_US:62718007
database_cross_reference: UMLS:C0013132
database_cross_reference: UMLS:C0037036
alternative_term: Dribbling
alternative_term: Drooling
alternative_term: Sialorrhea
has_obo_namespace: human_phenotype
id: HP:0002307
from ESSO: true
from pub med: true

Headache
type: Class
subclass of: Abnormality of nervous system physiology
definition: Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.
imported from: hp.owl
has_alternative_id: HP:0000266
has_alternative_id: HP:0001354
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK2605/
database_cross_reference: MSH:D006261
database_cross_reference: SNOMEDCT_US:25064002
database_cross_reference: UMLS:C0018681
alternative_term: Headache
alternative_term: Headaches
has_obo_namespace: human_phenotype
id: HP:0002315
comment: 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.
from article: true
from ESSO: true
from NCBI book: true

Drowsiness
type: Class
subclass of: Reduced consciousness/confusion
definition: Excessive daytime sleepiness.
imported from: hp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK2605/
database_cross_reference: MSH:D012894
database_cross_reference: SNOMEDCT_US:271782001
database_cross_reference: SNOMEDCT_US:79519003
database_cross_reference: UMLS:C0013144
alternative_term: Drowsiness
alternative_term: Sleepy
has_obo_namespace: human_phenotype
id: HP:0002329
from ESSO: true
from NCBI book: true

Focal aware seizure
type: Class
subclass of: focal seizure classification by onset feature
definition: 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.
imported from: hp.owl
database_cross_reference: MSH:D004828
database_cross_reference: SNOMEDCT_US:117891000119100
database_cross_reference: SNOMEDCT_US:79348005
database_cross_reference: UMLS:C0234974
has definition: 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.
alternative_term: Focal aware seizures
alternative_term: Focal seizure with retained awareness
alternative_term: Focal seizure without impairment of awareness
alternative_term: Focal seizure without impairment of consciousness or awareness
alternative_term: Focal seizures without impairment of consciousness or awareness
alternative_term: Partial seizure with retained awareness
alternative_term: Partial seizure without impairment of awareness
alternative_term: Simple partial seizure
alternative_term: Simple partial seizures
has_obo_namespace: human_phenotype
id: HP:0002349
comment: 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.
from ILAE: true

Axiom
annotated source: Focal aware seizure
annotated property: hasDefinition
annotated target: 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.

EEG abnormality
type: Class
subclass of: Abnormality of central nervous system electrophysiology
definition: Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.
imported from: hp.owl
has_alternative_id: HP:0001346
has_alternative_id: HP:0002429
has_alternative_id: HP:0006841
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/12199726
database_cross_reference: SNOMEDCT_US:274521009
database_cross_reference: UMLS:C0151611
alternative_term: Abnormal EEG
alternative_term: Abnormal electroencephalogram
alternative_term: EEG abnormalities
alternative_term: Electroencephalogram abnormal
alternative_term: Electroencephalogram abnormalities
has_obo_namespace: human_phenotype
id: HP:0002353
from pub med: true

Focal impaired awareness seizure
type: Class
subclass of: focal seizure classification by onset feature
definition: 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.
imported from: hp.owl
has_alternative_id: HP:0002278
has_alternative_id: HP:0011146
database_cross_reference: SNOMEDCT_US:4103001
database_cross_reference: UMLS:C0149958
database_cross_reference: UMLS:C0270834
has definition: 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.
alternative_term: Complex focal seizures
alternative_term: Complex partial seizures
alternative_term: DialepticSeizure
alternative_term: Dyscognitive seizures
alternative_term: Focal impaired awareness seizures
alternative_term: Focal seizures with impairment of consciousness or awareness
has_obo_namespace: human_phenotype
has_related_synonym: Dialeptic seizure
id: HP:0002384
comment: 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.
from ILAE: true

Axiom
annotated source: Focal impaired awareness seizure
annotated property: hasDefinition
annotated target: 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.

EEG with polyspike wave complexes
type: Class
subclass of: EEG with spike-wave complexes
definition: The presence of complexes of repetitive spikes and waves in EEG.
imported from: hp.owl
database_cross_reference: UMLS:C4021757
alternative_term: EEG: spike and multispike waves, 3-4 hz
alternative_term: electroencephalogram with polyspike wave complex
has_obo_namespace: human_phenotype
has_related_synonym: Polyspike-and-Slow-Wave Complex
id: HP:0002392
from ESSO: true

Myokymia
type: Class
subclass of: Abnormality of movement
definition: Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle.
imported from: hp.owl
database_cross_reference: MSH:D020385
database_cross_reference: SNOMEDCT_US:27678003
database_cross_reference: UMLS:C0684219
has_obo_namespace: human_phenotype
id: HP:0002411
comment: 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.

Hypothalamic hamartoma
type: Class
subclass of: Malformations of Cortical Development
definition: The presence of a hamartoma of the hypothalamus.
imported from: hp.owl
database_cross_reference: MSH:C537158
database_cross_reference: SNOMEDCT_US:237714006
database_cross_reference: UMLS:C0342418
has definition: 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.
has_obo_namespace: human_phenotype
has_related_synonym: Hamartoma
id: HP:0002444
comment: 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.
from EPILONT: true
from ESSO: true
from ILAE: true

Axiom
annotated source: Hypothalamic hamartoma
annotated property: hasDefinition
annotated target: 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.

Upper motor neuron dysfunction
type: Class
subclass of: Abnormality of central motor function
definition: 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.
imported from: hp.owl
database_cross_reference: UMLS:C1504405
database_cross_reference: UMLS:C1839042
alternative_term: Corticospinal tract dysfunction
alternative_term: Pyramidal tract dysfunction
has_obo_namespace: human_phenotype
id: HP:0002493
comment: 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).

Hypsarrhythmia
type: Class
subclass of: EEG with generalized epileptiform discharges
definition: 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).
imported from: hp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29656099
database_cross_reference: MSH:D013036
database_cross_reference: SNOMEDCT_US:28055006
database_cross_reference: UMLS:C0684276
alternative_term: Hypsarrhythmia by EEG
has_obo_namespace: human_phenotype
id: HP:0002521
from ESSO: true
from pub med: true

Gastrointestinal dysmotility
type: Class
subclass of: Abnormal gastrointestinal motility
definition: 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.
imported from: hp.owl
database_cross_reference: UMLS:C1836923
alternative_term: GI dysmotility
has_obo_namespace: human_phenotype
id: HP:0002579
in subset: hposlim core

Abnormality of the vasculature
type: Class
subclass of: Abnormality of the cardiovascular system
definition: An abnormality of the vasculature.
imported from: hp.owl
database_cross_reference: UMLS:C0241657
alternative_term: Abnormality of blood vessels
alternative_term: Abnormality of the vasculature
alternative_term: Vascular abnormalities
has_obo_namespace: human_phenotype
id: HP:0002597

Hypotension
type: Class
subclass of: Abnormal systemic blood pressure
definition: Low Blood Pressure, vascular hypotension.
imported from: hp.owl
has_alternative_id: HP:0005127
has_alternative_id: HP:0006701
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30378543
database_cross_reference: MSH:D007022
database_cross_reference: SNOMEDCT_US:45007003
database_cross_reference: UMLS:C0020649
alternative_term: Arterial hypotension
alternative_term: Low blood pressure
has_obo_namespace: human_phenotype
id: HP:0002615
from ESSO: true
from pub med: true

Neoplasm
type: Class
subclass of: structural etiology
definition: 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).
imported from: hp.owl
has_alternative_id: HP:0003008
has_alternative_id: HP:0006741
has_broad_synonym: Abnormal tissue mass
database_cross_reference: MSH:D009369
database_cross_reference: NCIT:C3262
database_cross_reference: SNOMEDCT_US:108369006
database_cross_reference: SNOMEDCT_US:363346000
database_cross_reference: UMLS:C0006826
database_cross_reference: UMLS:C0027651
has definition: 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.
alternative_term: Neoplasia
alternative_term: Oncological abnormality
alternative_term: Tumor
alternative_term: Tumour
has_obo_namespace: human_phenotype
has_related_synonym: Cancer
has_related_synonym: Oncology
id: HP:0002664
comment: 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.
from ILAE: true

Axiom
annotated source: Neoplasm
annotated property: hasDefinition
annotated target: 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.

Abnormality of the immune system
type: Class
subclass of: Phenotypic abnormality
definition: An abnormality of the immune system.
imported from: hp.owl
has_alternative_id: HP:0003257
has_alternative_id: HP:0003346
has_alternative_id: HP:0010986
database_cross_reference: UMLS:C4021753
alternative_term: Abnormality of the immune system
alternative_term: Immunological abnormality
has_obo_namespace: human_phenotype
id: HP:0002715
comment: 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.

Upper airway obstruction
type: Class
subclass of: Syncope
definition: Increased resistance to the passage of air in the upper airway.
imported from: hp.owl
database_cross_reference: UMLS:C0740852
has definition: 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.
alternative_term: IUAO
alternative_term: Upper airway obstruction
alternative_term: imposed upper airways obstruction
has_obo_namespace: human_phenotype
id: HP:0002781
in subset: hposlim core
from ILAE: true

Axiom
annotated source: Upper airway obstruction
annotated property: hasDefinition
annotated target: 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.

Functional respiratory abnormality
type: Class
subclass of: Abnormality of the respiratory system
imported from: hp.owl
database_cross_reference: Fyler:4200
database_cross_reference: UMLS:C4025677
alternative_term: Abnormal respiration
alternative_term: Functional respiratory abnormality
has_obo_namespace: human_phenotype
has_related_synonym: Respiratory problem
id: HP:0002795
comment: This category describes not-primarily structural lesions.

Ependymoma
type: Class
subclass of: glioma
definition: The presence of an ependymoma of the central nervous system.
imported from: hp.owl
database_cross_reference: MSH:D004806
database_cross_reference: NCIT:C3017
database_cross_reference: SNOMEDCT_US:443643007
database_cross_reference: SNOMEDCT_US:57706008
database_cross_reference: UMLS:C0014474
has_obo_namespace: human_phenotype
id: HP:0002888
comment: 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.

Hypocalcemia
type: Class
subclass of: Abnormal circulating calcium concentration
definition: An abnormally decreased calcium concentration in the blood.
imported from: hp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/20430655
database_cross_reference: MSH:D006996
database_cross_reference: SNOMEDCT_US:5291005
database_cross_reference: UMLS:C0020598
alternative_term: Hypocalcaemia
alternative_term: Low blood calcium levels
has_obo_namespace: human_phenotype
id: HP:0002901
from article: true
from pub med: true

Hyponatremia
type: Class
subclass of: Abnormal blood sodium concentration
definition: An abnormally decreased sodium concentration in the blood.
imported from: hp.owl
database_cross_reference: MSH:D007010
database_cross_reference: SNOMEDCT_US:89627008
database_cross_reference: UMLS:C0020625
alternative_term: Low blood sodium levels
has_obo_namespace: human_phenotype
id: HP:0002902
from article: true

Hypomagnesemia
type: Class
subclass of: Abnormal magnesium concentration
definition: An abnormally decreased magnesium concentration in the blood.
imported from: hp.owl
has_alternative_id: HP:0003284
database_cross_reference: SNOMEDCT_US:190855004
database_cross_reference: UMLS:C0151723
alternative_term: Low blood Mg levels
alternative_term: Low blood magnesium levels
has_obo_namespace: human_phenotype
id: HP:0002917
from article: true

Abnormality of the cerebrospinal fluid
type: Class
subclass of: Morphological abnormality of the central nervous system
definition: An abnormality of the cerebrospinal fluid (CSF).
imported from: hp.owl
database_cross_reference: UMLS:C0151583
alternative_term: Abnormal CSF findings
alternative_term: Abnormality of the CSF
has_obo_namespace: human_phenotype
id: HP:0002921
comment: 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 musculature
type: Class
subclass of: Phenotypic abnormality
definition: Abnormality originating in one or more muscles, i.e., of the set of muscles of body.
imported from: hp.owl
has_alternative_id: HP:0003197
has_alternative_id: HP:0003708
has_alternative_id: HP:0040290
database_cross_reference: UMLS:C4021745
alternative_term: Muscular abnormality
has_obo_namespace: human_phenotype
id: HP:0003011

Abnormal blood ion concentration
type: Class
subclass of: Abnormal circulating metabolite concentration
definition: Abnormality of the homeostasis (concentration) of a monoatomic ion.
imported from: hp.owl
has_alternative_id: HP:0003253
database_cross_reference: SNOMEDCT_US:237840007
database_cross_reference: UMLS:C1704431
database_cross_reference: UMLS:C4025654
alternative_term: Abnormality of ion homeostasis
alternative_term: Electrolyte disorders
has_obo_namespace: human_phenotype
id: HP:0003111

Hypernatremia
type: Class
subclass of: Abnormal blood sodium concentration
definition: An abnormally increased sodium concentration in the blood.
imported from: hp.owl
database_cross_reference: MSH:D006955
database_cross_reference: SNOMEDCT_US:286926003
database_cross_reference: SNOMEDCT_US:39355002
database_cross_reference: UMLS:C0020488
alternative_term: High blood sodium levels
has_obo_namespace: human_phenotype
id: HP:0003228
from article: true

Elevated serum creatine kinase
type: Class
subclass of: Abnormal circulating creatine kinase concentration
definition: 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.
imported from: hp.owl
has_alternative_id: HP:0002147
has_alternative_id: HP:0002906
has_alternative_id: HP:0003078
has_alternative_id: HP:0003525
has_alternative_id: HP:0003531
has_alternative_id: HP:0008164
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28288363
database_cross_reference: UMLS:C0151576
database_cross_reference: UMLS:C0241005
alternative_term: Elevated blood creatine phosphokinase
alternative_term: Elevated circulating creatine phosphokinase
alternative_term: Elevated creatine kinase
alternative_term: Elevated serum CPK
alternative_term: Elevated serum creatine kinase
alternative_term: Elevated serum creatine phosphokinase
alternative_term: High serum creatine kinase
alternative_term: Increased CPK
alternative_term: Increased creatine kinase
alternative_term: Increased creatine phosphokinase
alternative_term: Increased serum CK
alternative_term: Increased serum creatine kinase
alternative_term: Increased serum creatine phosphokinase
has_obo_namespace: human_phenotype
id: HP:0003236
comment: 'has part' some ('increased amount' and ('inheres in' some (IMR_0002602 and ('part of' some blood))) and ('has modifier' some abnormal))
from pub med: true

Muscle spasm
type: Class
subclass of: Abnormal muscle physiology
definition: Sudden and involuntary contractions of one or more muscles.
imported from: hp.owl
has_alternative_id: HP:0009018
has_alternative_id: HP:0031988
database_cross_reference: MSH:D009120
database_cross_reference: SNOMEDCT_US:55300003
database_cross_reference: UMLS:C0026821
alternative_term: Muscle cramps
has_obo_namespace: human_phenotype
has_related_synonym: Spasm
id: HP:0003394
from ESSO: true

Abnormality of connective tissue
type: Class
subclass of: Phenotypic abnormality
definition: Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat).
imported from: hp.owl
database_cross_reference: UMLS:C4025596
has_obo_namespace: human_phenotype
id: HP:0003549

Muscle stiffness
type: Class
subclass of: Abnormal muscle physiology
definition: A condition in which muscles cannot be moved quickly without accompanying pain or spasm.
imported from: hp.owl
has_alternative_id: HP:0009014
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28139515
database_cross_reference: SNOMEDCT_US:16046003
database_cross_reference: UMLS:C0221170
alternative_term: stiffness
has_obo_namespace: human_phenotype
id: HP:0003552
from article: true
from ESSO: true
from pub med: true

Excessive salivation
type: Class
subclass of: Abnormality of salivation
definition: Excessive production of saliva.
imported from: hp.owl
database_cross_reference: MSH:D012798
database_cross_reference: SNOMEDCT_US:275295002
database_cross_reference: SNOMEDCT_US:53827007
database_cross_reference: SNOMEDCT_US:62718007
database_cross_reference: UMLS:C0013132
database_cross_reference: UMLS:C0037036
alternative_term: Excessive production of saliva
alternative_term: Excessive salivation
alternative_term: Hypersalivation
alternative_term: Mouth watering
alternative_term: Oversalivation
alternative_term: Ptyalism
alternative_term: Watery mouth
has_obo_namespace: human_phenotype
id: HP:0003781

Abnormal muscle tone
type: Class
subclass of: Abnormal muscle physiology
imported from: hp.owl
database_cross_reference: UMLS:C0852413
alternative_term: Abnormal muscle tone
has_obo_namespace: human_phenotype
id: HP:0003808

Involuntary movements
type: Class
subclass of: Abnormality of movement
definition: Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.
imported from: hp.owl
created_by: peter
creation_date: 2008-02-20T12:18:00Z
has_alternative_id: HP:0007120
database_cross_reference: SNOMEDCT_US:102542000
database_cross_reference: UMLS:C0235086
alternative_term: Involuntary movements
alternative_term: Involuntary muscle contractions
has_obo_namespace: human_phenotype
id: HP:0004305

Abnormality of body weight
type: Class
subclass of: Growth abnormality
definition: An abnormal increase or decrease of weight or an abnormal distribution of mass in the body.
imported from: hp.owl
created_by: peter
creation_date: 2008-02-27T03:21:00Z
has_alternative_id: HP:0010718
database_cross_reference: UMLS:C0878621
database_cross_reference: UMLS:C4025357
alternative_term: Abnormality of body weight
has_obo_namespace: human_phenotype
has_related_synonym: Abnormality of habitus
id: HP:0004323

Decreased body weight
type: Class
subclass of: Abnormality of body weight
definition: Abnormally low body weight.
imported from: hp.owl
created_by: peter
creation_date: 2008-02-27T03:22:00Z
has_alternative_id: HP:0001823
has_alternative_id: HP:0001826
database_cross_reference: MSH:D013851
database_cross_reference: MSH:D015431
database_cross_reference: SNOMEDCT_US:161832001
database_cross_reference: SNOMEDCT_US:248342006
database_cross_reference: SNOMEDCT_US:262285001
database_cross_reference: SNOMEDCT_US:89362005
database_cross_reference: UMLS:C0041667
database_cross_reference: UMLS:C1262477
database_cross_reference: UMLS:C1844806
alternative_term: Decreased body weight
alternative_term: Decreased weight
alternative_term: Low body weight
alternative_term: Low weight
alternative_term: Weight less than 3rd percentile
has_obo_namespace: human_phenotype
id: HP:0004325

Abnormal vitreous humor morphology
type: Class
subclass of: Abnormal posterior eye segment morphology
definition: Any structural anomaly of the vitreous body.
imported from: hp.owl
created_by: peter
creation_date: 2008-02-27T04:20:00Z
database_cross_reference: UMLS:C4025356
alternative_term: Abnormal vitreous humour morphology
has_obo_namespace: human_phenotype
id: HP:0004327
in subset: hposlim core
comment: The vitreous humor is the clear gel that fills the space between the lens and the retina.

Abnormal posterior eye segment morphology
type: Class
subclass of: Abnormal eye morphology
imported from: hp.owl
created_by: peter
creation_date: 2008-02-27T04:25:00Z
database_cross_reference: UMLS:C4025354
alternative_term: Abnormal morphology of the posterior segment of the globe
alternative_term: Abnormality of the posterior segment of the eye
alternative_term: Abnormality of the posterior segment of the eyeball
alternative_term: Abnormality of the posterior segment of the globe
has_obo_namespace: human_phenotype
id: HP:0004329
comment: 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 circulating calcium concentration
type: Class
subclass of: Abnormal blood inorganic cation concentration
definition: Any deviation from the normal concentration of calcium in the blood circulation.
imported from: hp.owl
created_by: peter
creation_date: 2008-03-17T04:15:00Z
has_alternative_id: HP:0040077
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/20430655
alternative_term: Abnormal blood calcium concentration
alternative_term: Abnormal blood calcium levels
alternative_term: Abnormal circulating Ca concentration
alternative_term: Abnormal circulating Ca2+ concentration
id: HP:0004363
from pub med: true

Reduced consciousness/confusion
type: Class
subclass of: Abnormality of higher mental function
imported from: hp.owl
created_by: peter
creation_date: 2008-03-18T07:12:00Z
database_cross_reference: SNOMEDCT_US:3006004
database_cross_reference: UMLS:C0234428
alternative_term: Disturbances of consciousness
alternative_term: Lowered consciousness
alternative_term: Reduced consciousness/confusion
has_obo_namespace: human_phenotype
id: HP:0004372

Hemiplegia/hemiparesis
type: Class
subclass of: Weakness due to upper motor neuron dysfunction
definition: 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.
imported from: hp.owl
created_by: peter
creation_date: 2008-03-18T07:35:00Z
database_cross_reference: UMLS:C0375206
alternative_term: Paralysis or weakness of one side of body
has_obo_namespace: human_phenotype
id: HP:0004374

Thrombophlebitis
type: Class
subclass of: Venous thrombosis
definition: Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).
imported from: hp.owl
created_by: peter
creation_date: 2008-03-18T09:30:00Z
database_cross_reference: MSH:D013924
database_cross_reference: SNOMEDCT_US:64156001
database_cross_reference: UMLS:C0040046
has_obo_namespace: human_phenotype
id: HP:0004418
from article: true

Abnormal magnesium concentration
type: Class
subclass of: Abnormal blood inorganic cation concentration
definition: An abnormality of magnesium ion homeostasis.
imported from: hp.owl
has_alternative_id: HP:0008274
database_cross_reference: UMLS:C4020826
database_cross_reference: UMLS:C4025274
alternative_term: Abnormal Mg concentration
alternative_term: Abnormality of magnesium homeostasis
has_obo_namespace: human_phenotype
has_related_synonym: Abnormal magnesium metabolism
id: HP:0004921

Venous thrombosis
type: Class
subclass of: Abnormal thrombosis
definition: Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.
imported from: hp.owl
database_cross_reference: MSH:D020246
database_cross_reference: SNOMEDCT_US:111293003
database_cross_reference: UMLS:C0042487
alternative_term: Blood clot in vein
has_obo_namespace: human_phenotype
id: HP:0004936

Arterial dissection
type: Class
subclass of: Abnormal systemic arterial morphology
definition: A separation (dissection) of the layers of an artery.
imported from: hp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3728598/
database_cross_reference: MSH:D000784
database_cross_reference: SNOMEDCT_US:233992003
database_cross_reference: SNOMEDCT_US:26845001
database_cross_reference: SNOMEDCT_US:710864009
database_cross_reference: SNOMEDCT_US:9406001
database_cross_reference: UMLS:C0002949
has_obo_namespace: human_phenotype
id: HP:0005294
from pub med: true

Hemiclonic seizures
type: Class
subclass of: Focal clonic seizure
imported from: hp.owl
database_cross_reference: UMLS:C1846620
alternative_term: Unilateral clonic seizures
has_obo_namespace: human_phenotype
id: HP:0006813

Hemimegalencephaly
type: Class
subclass of: Malformations of Cortical Development
definition: Enlargement of all or parts of one cerebral hemisphere.
imported from: hp.owl
database_cross_reference: MSH:D065705
database_cross_reference: SNOMEDCT_US:253170008
database_cross_reference: UMLS:C0431391
has definition: 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.
has_obo_namespace: human_phenotype
id: HP:0007206
comment: The affected hemisphere may have focal or diffuse neuronal migration defects, with areas of polymicrogyria, pachygyria, and heterotopia.
from ILAE: true

Axiom
annotated source: Hemimegalencephaly
annotated property: hasDefinition
annotated target: 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.

Focal-onset seizure
type: Class
subclass of: seizure classification
definition: Seizures of which initial semiology indicates, or is consistent with, initial activation of only part of one cerebral hemisphere.
imported from: hp.owl
created_by: peter
creation_date: 2008-03-31T05:27:00Z
has_alternative_id: HP:0002358
database_cross_reference: MSH:D012640
database_cross_reference: SNOMEDCT_US:29753000
database_cross_reference: UMLS:C0751495
has definition: 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.
alternative_term: Focal seizure
alternative_term: Focal seizures
alternative_term: Focal-onset seizures
alternative_term: Partial seizures
alternative_term: Seizure affecting one half of brain
has_obo_namespace: human_phenotype
id: HP:0007359
comment: Partial seizures can be classified as simple (consciousness is maintained) or complex (consciousness is impaired or lost).
from ILAE: true

Axiom
annotated source: Focal-onset seizure
annotated property: hasDefinition
annotated target: 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.

Puberty and gonadal disorders
type: Class
subclass of: Abnormality of the endocrine system
imported from: mondo.owl
created_by: peter
creation_date: 2008-04-04T12:35:00Z
has_alternative_id: HP:0000827
database_cross_reference: UMLS:C4024685
alternative_term: Puberty and gonadal disorders
has_obo_namespace: human_phenotype
id: HP:0008373

Spinal myoclonus
type: Class
subclass of: Miscellaneous
definition: 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.
imported from: hp.owl
created_by: peter
creation_date: 2009-09-20T08:53:39Z
database_cross_reference: SNOMEDCT_US:698836007
database_cross_reference: UMLS:C3697670
has definition: 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.
has_obo_namespace: human_phenotype
id: HP:0010531
from ILAE: true

Axiom
annotated source: Spinal myoclonus
annotated property: hasDefinition
annotated target: 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.

Weakness due to upper motor neuron dysfunction
type: Class
subclass of: Upper motor neuron dysfunction
definition: 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.
imported from: hp.owl
created_by: peter
creation_date: 2009-10-01T08:30:25Z
database_cross_reference: UMLS:C4021255
alternative_term: Paralysis due to lesions of the principle motor tracts
has_obo_namespace: human_phenotype
id: HP:0010549

Schizencephaly
type: Class
subclass of: Malformations of Cortical Development
definition: The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area.
imported from: hp.owl
created_by: peter
creation_date: 2009-12-06T08:05:54Z
database_cross_reference: MSH:D065707
database_cross_reference: SNOMEDCT_US:253159001
database_cross_reference: SNOMEDCT_US:38353004
database_cross_reference: UMLS:C0266484
has definition: 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.
has_obo_namespace: human_phenotype
id: HP:0010636
from ILAE: true

Axiom
annotated source: Schizencephaly
annotated property: hasDefinition
annotated target: 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.

Enuresis nocturna
type: Class
subclass of: Enuresis
definition: Enuresis occurring during sleeping hours.
imported from: hp.owl
created_by: sandra1
creation_date: 2010-03-01T09:11:31Z
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30666028
database_cross_reference: MSH:D053206
database_cross_reference: SNOMEDCT_US:8009008
database_cross_reference: UMLS:C0270327
alternative_term: Nocturnal enuresis
has_obo_namespace: human_phenotype
has_related_synonym: Bedwetting
id: HP:0010677
from pub med: true

Erythema
type: Class
subclass of: Vascular skin abnormality
definition: Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.
imported from: hp.owl
created_by: peter
creation_date: 2010-04-30T11:40:43Z
database_cross_reference: MSH:D004890
database_cross_reference: MSH:D005483
database_cross_reference: SNOMEDCT_US:20255002
database_cross_reference: SNOMEDCT_US:238810007
database_cross_reference: SNOMEDCT_US:247441003
database_cross_reference: SNOMEDCT_US:271811009
database_cross_reference: SNOMEDCT_US:444827008
database_cross_reference: SNOMEDCT_US:70819003
database_cross_reference: SNOMEDCT_US:86735004
database_cross_reference: UMLS:C0016382
database_cross_reference: UMLS:C0041834
alternative_term: Redness of skin or mucous membrane
has_obo_namespace: human_phenotype
id: HP:0010783
in subset: hposlim core

Generalized tonic seizures
type: Class
subclass of: generalized motor onset seizure
definition: Generalized seizures with sustained increase in muscle contraction lasting a few seconds to minutes.
imported from: hp.owl
created_by: peter
creation_date: 2010-07-10T03:03:51Z
has_alternative_id: HP:0002184
database_cross_reference: UMLS:C1836508
has definition: 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.
alternative_term: Generalised tonic seizures
has_obo_namespace: human_phenotype
has_related_synonym: Hypertonic seizures
id: HP:0010818
comment: 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.
from ILAE: true

Axiom
annotated source: Generalized tonic seizures
annotated property: hasDefinition
annotated target: 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.

Atonic seizure
type: Class
subclass of: generalized motor onset seizure
definition: 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.
imported from: hp.owl
created_by: peter
creation_date: 2010-07-10T03:13:06Z
has_alternative_id: HP:0002124
database_cross_reference: SNOMEDCT_US:189198006
database_cross_reference: SNOMEDCT_US:42365007
database_cross_reference: UMLS:C0270846
database_cross_reference: UMLS:C1836509
alternative_term: Astatic seizure
alternative_term: Astatic seizures
alternative_term: Atonic seizures
alternative_term: Drop attacks
alternative_term: Drop seizures
alternative_term: Hypotonic seizure
has_obo_namespace: human_phenotype
has_related_synonym: Hypotonic seizures
has_related_synonym: Sudden loss of muscle tone
id: HP:0010819
comment: 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.
from ILAE: true

Dacrystic seizures
type: Class
subclass of: Focal emotional seizure
definition: A type of seizure characterized by crying or an outburst of crying as a major feature.
imported from: hp.owl
created_by: peter
creation_date: 2010-07-10T03:23:32Z
database_cross_reference: UMLS:C4023693
has definition: 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.
has_obo_namespace: human_phenotype
id: HP:0010820
comment: The word dacrystic is derived from the Greek word dakryon (tear).
from ILAE: true

Axiom
annotated source: Dacrystic seizures
annotated property: hasDefinition
annotated target: 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.

Gelastic seizures
type: Class
subclass of: Focal emotional seizure
definition: A type of seizure characterized by laughing or an outburst of laughing as a major feature.
imported from: hp.owl
created_by: peter
creation_date: 2010-07-10T03:27:12Z
database_cross_reference: MSH:D004828
database_cross_reference: SNOMEDCT_US:89525009
database_cross_reference: UMLS:C0270820
has definition: 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.
alternative_term: focal emotional seizure with laughing (gelastic)
has_obo_namespace: human_phenotype
id: HP:0010821
comment: 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.
from article: true
from ILAE: true

Axiom
annotated source: Gelastic seizures
annotated property: hasDefinition
annotated target: 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.

EEG with generalized slow activity
type: Class
subclass of: EEG with abnormally slow frequencies
definition: Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).
imported from: hp.owl
created_by: peter
creation_date: 2010-07-10T08:15:05Z
database_cross_reference: UMLS:C4021217
alternative_term: EEG with generalised slow activity
alternative_term: EEG: generalised slow activity
alternative_term: EEG: generalized slow activity
alternative_term: electroencephalogram with generalized slow activity
has_obo_namespace: human_phenotype
has_related_synonym: Slow Activity
id: HP:0010845
comment: Generalized slow activity in the EEG typically signifies serious dysfunction of the entire brain.
from EPILONT: true
from ESSO: true

EEG with spike-wave complexes (<2.5 Hz)
type: Class
subclass of: EEG with spike-wave complexes
definition: The presence of complexes of slow spikes and slow waves (<2.5 Hz) in electroencephalography (EEG).
imported from: hp.owl
created_by: peter
creation_date: 2010-07-10T08:18:25Z
database_cross_reference: UMLS:C4023686
alternative_term: spike and slow wave complex
has_obo_namespace: human_phenotype
id: HP:0010847
comment: 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.
from ESSO: true

EEG with spike-wave complexes
type: Class
subclass of: EEG with generalized epileptiform discharges
definition: 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).
imported from: hp.owl
created_by: peter
creation_date: 2010-07-10T08:23:28Z
database_cross_reference: UMLS:C4023683
alternative_term: electroencephalogram with spike wave complex
has_obo_namespace: human_phenotype
has_related_synonym: Spike Wave
id: HP:0010850
from ESSO: true

EEG with photoparoxysmal response
type: Class
subclass of: EEG abnormality
definition: EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns.
imported from: hp.owl
created_by: peter
creation_date: 2010-07-11T08:10:17Z
has_alternative_id: HP:0001330
database_cross_reference: UMLS:C3552821
alternative_term: Photoparoxysmal response on EEG
alternative_term: electroencephalogram with photoparoxysmal response
has_obo_namespace: human_phenotype
has_related_synonym: Photoparoxysmal Response
id: HP:0010852
comment: 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 periodic lateralized epileptiform discharges
type: Class
subclass of: Focal epileptiform discharges with limited propagation to contralateral hemisphere
definition: Periodic lateralized epileptiform discharges (PLEDs)are periodic, lateralized, and epileptiform. PLEDs show a relatively constant interval between discharges (0.5 to 3 seconds).
imported from: hp.owl
created_by: peter
creation_date: 2010-07-11T08:25:02Z
database_cross_reference: UMLS:C4021215
alternative_term: EEG: periodic lateralized epileptiform discharges
alternative_term: electroencephalogram with periodic lateralized epileptiform discharge
has_obo_namespace: human_phenotype
has_related_synonym: Periodic Lateralized Epileptiform Discharge
id: HP:0010853
comment: 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.

Abnormal circulating protein level
type: Class
subclass of: Abnormal circulating metabolite concentration
definition: An abnormal level of a circulating protein in the blood.
imported from: hp.owl
created_by: peter
creation_date: 2010-09-07T01:51:12Z
database_cross_reference: UMLS:C4020763
database_cross_reference: UMLS:C4020764
database_cross_reference: UMLS:C4023679
alternative_term: Abnormality of circulating protein level
has_obo_namespace: human_phenotype
has_related_synonym: Blood protein disease
has_related_synonym: Serum protein abnormality
id: HP:0010876

Abnormal blood inorganic cation concentration
type: Class
subclass of: Abnormal blood cation concentration
definition: An abnormality of divalent inorganic cation homeostasis.
imported from: hp.owl
created_by: peter
creation_date: 2011-01-06T07:47:18Z
database_cross_reference: UMLS:C4023648
alternative_term: Abnormality of divalent inorganic cation homeostasis
has_obo_namespace: human_phenotype
id: HP:0010927

Abnormal blood cation concentration
type: Class
subclass of: Abnormal blood ion concentration
definition: An abnormality of cation homeostasis.
imported from: hp.owl
created_by: peter
creation_date: 2011-01-06T10:36:04Z
database_cross_reference: UMLS:C4023646
alternative_term: Abnormality of cation homeostasis
has_obo_namespace: human_phenotype
id: HP:0010929

Abnormal blood monovalent inorganic cation concentration
type: Class
subclass of: Abnormal blood cation concentration
definition: An abnormality of monovalent inorganic cation homeostasis.
imported from: hp.owl
created_by: peter
creation_date: 2011-01-06T10:38:38Z
database_cross_reference: UMLS:C4023645
alternative_term: Abnormality of monovalent inorganic cation homeostasis
has_obo_namespace: human_phenotype
id: HP:0010930

Abnormal blood sodium concentration
type: Class
subclass of: Abnormal blood monovalent inorganic cation concentration
definition: An abnormal concentration of sodium.
imported from: hp.owl
created_by: peter
creation_date: 2011-01-06T10:40:20Z
database_cross_reference: UMLS:C4023644
alternative_term: Abnormal blood Na+ levels
alternative_term: Abnormal circulating Na concentration
alternative_term: Abnormality of sodium homeostasis
has_obo_namespace: human_phenotype
id: HP:0010931

Abnormality of the lower urinary tract
type: Class
subclass of: Abnormality of the urinary system
definition: An abnormality of the lower urinary tract.
imported from: hp.owl
created_by: peter
creation_date: 2011-01-16T11:39:17Z
database_cross_reference: UMLS:C4023640
has_obo_namespace: human_phenotype
id: HP:0010936
comment: The lower urinary tract is a subdivision of urinary system which consists of the urinary bladder and the urethra.

Abnormality of immune system physiology
type: Class
subclass of: Abnormality of the immune system
definition: A functional abnormality of the immune system.
imported from: hp.owl
created_by: peter
creation_date: 2011-02-07T04:28:55Z
database_cross_reference: UMLS:C4023616
has_obo_namespace: human_phenotype
id: HP:0010978

Abnormal systemic arterial morphology
type: Class
subclass of: Abnormal vascular morphology
definition: An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries.
imported from: hp.owl
created_by: peter
creation_date: 2011-02-16T08:46:49Z
has_alternative_id: HP:0002620
has_alternative_id: HP:0005114
database_cross_reference: Fyler:2600
database_cross_reference: SNOMEDCT_US:234119001
database_cross_reference: UMLS:C0151489
database_cross_reference: UMLS:C4021205
alternative_term: Abnormal systemic artery morphology
alternative_term: Abnormality of the systemic arterial tree
alternative_term: Systemic artery abnormality
has_obo_namespace: human_phenotype
has_related_synonym: Arterial abnormalities
id: HP:0011004

Abnormality of circulating enzyme level
type: Class
subclass of: Abnormal circulating protein level
imported from: hp.owl
created_by: peter
creation_date: 2011-02-28T08:46:34Z
database_cross_reference: UMLS:C4023591
has_obo_namespace: human_phenotype
id: HP:0011021

Abnormality of the gastrointestinal tract
type: Class
subclass of: Abnormality of the digestive system
definition: An abnormality of the gastrointestinal tract.
imported from: hp.owl
created_by: peter
creation_date: 2011-03-01T07:52:06Z
database_cross_reference: MSH:D004066
database_cross_reference: MSH:D005767
database_cross_reference: SNOMEDCT_US:119292006
database_cross_reference: SNOMEDCT_US:25374005
database_cross_reference: SNOMEDCT_US:53619000
database_cross_reference: UMLS:C0012242
database_cross_reference: UMLS:C0017178
database_cross_reference: UMLS:C4023588
alternative_term: Abnormality of the GI tract
alternative_term: Abnormality of the gastrointestinal tract
has_obo_namespace: human_phenotype
has_related_synonym: Digestive system disease
has_related_synonym: Gastrointestinal disease
id: HP:0011024

Abnormal cardiovascular system physiology
type: Class
subclass of: Abnormality of the cardiovascular system
definition: Abnormal functionality of the cardiovascular system.
imported from: hp.owl
created_by: peter
creation_date: 2011-03-03T10:23:19Z
database_cross_reference: UMLS:C4023587
alternative_term: Abnormality of cardiovascular system physiology
has_obo_namespace: human_phenotype
id: HP:0011025

Abnormality of blood circulation
type: Class
subclass of: Abnormal cardiovascular system physiology
definition: An abnormality of blood circulation.
imported from: hp.owl
created_by: peter
creation_date: 2011-03-03T10:25:21Z
database_cross_reference: UMLS:C4020760
database_cross_reference: UMLS:C4023585
has_obo_namespace: human_phenotype
has_related_synonym: Blood circulation disorder
id: HP:0011028

Internal hemorrhage
type: Class
subclass of: Abnormal bleeding
subclass of: Abnormality of blood circulation
definition: The presence of hemorrhage within the body.
imported from: hp.owl
created_by: peter
creation_date: 2011-03-03T10:26:26Z
database_cross_reference: UMLS:C1390214
alternative_term: Internal bleeding
alternative_term: Internal haemorrhage
has_obo_namespace: human_phenotype
id: HP:0011029

Epileptic spasms
type: Class
subclass of: Focal motor seizure
subclass of: generalized motor onset seizure
definition: A sudden flexion, extension or mixed extension-flexion of predominantly proximal and truncal muscles which is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure.
imported from: hp.owl
created_by: peter
creation_date: 2011-05-04T01:56:31Z
database_cross_reference: MSH:D013036
database_cross_reference: SNOMEDCT_US:28055006
database_cross_reference: UMLS:C0037769
database_cross_reference: UMLS:C1527366
has definition: An epileptic spasm is a sudden flexion, extension or mixed flexion-extension of proximal and truncal muscles, lasting 1-2 seconds i.e. longer than a myoclonic jerk (which lasts milliseconds) but not as long as a tonic seizure (which lasts > 2 seconds). Spasms typically occur in a series, usually on wakening. Subtle forms may occur with only chin movement, grimacing, or head nodding.
alternative_term: Salaam convulsions
alternative_term: Salaam seizures
has_obo_namespace: human_phenotype
has_related_synonym: West syndrome
id: HP:0011097
comment: The maximum age of onset is between 3 and 12 months, the peak being at 6 months. However, spasms may start from birth, or appear long after the age of 12 months, including into adulthood. Infantile spasms represent a specific type of seizure seen in an epilepsy syndrome of infancy and childhood known as West Syndrome. West Syndrome is characterized by infantile spasms, developmental regression, and hypsarrhythmia (as demonstrated by electroencephalography).
from ILAE: true

Axiom
annotated source: Epileptic spasms
annotated property: hasDefinition
annotated target: An epileptic spasm is a sudden flexion, extension or mixed flexion-extension of proximal and truncal muscles, lasting 1-2 seconds i.e. longer than a myoclonic jerk (which lasts milliseconds) but not as long as a tonic seizure (which lasts > 2 seconds). Spasms typically occur in a series, usually on wakening. Subtle forms may occur with only chin movement, grimacing, or head nodding.

Abnormality of skin morphology
type: Class
subclass of: Abnormality of the skin
definition: Any morphological abnormality of the skin.
imported from: hp.owl
created_by: peter
creation_date: 2011-06-12T10:03:23Z
database_cross_reference: Fyler:4133
database_cross_reference: UMLS:C4023528
alternative_term: Abnormal skin morphology
alternative_term: Abnormal skin structure
has_obo_namespace: human_phenotype
id: HP:0011121

Absence seizure with eyelid myoclonia
type: Class
subclass of: generalized non-motor onset seizure
definition: Absence seizures accompanied by brief, repetitive, often rhythmic, fast (4-6 Hz) myoclonic jerks of the eyelids with simultaneous upward deviation of the eyeballs and extension of the head. Seizures are typically very brief (less than 6s in duration) and multiple seizures occur on a daily basis. Mostly awareness is retained.
imported from: hp.owl
created_by: peter
creation_date: 2011-10-18T02:03:21Z
database_cross_reference: UMLS:C4023513
alternative_term: Absence seizures with eyelid myoclonia
has_obo_namespace: human_phenotype
id: HP:0011149
from ILAE: true

Myoclonic absence
type: Class
subclass of: generalized non-motor onset seizure
definition: Rhythmic myoclonic jerks of the shoulders and arms with tonic abduction that results in progressive lifting of the arms during the seizure. The myoclonic jerks are typically bilateral but may be unilateral or asymmetric. Perioral myoclonias and rhythmic jerks of the head and legs may occur. Seizures last 10-60 seconds and typically occur daily. Level of awareness varies from complete loss of awareness to retained awareness.
imported from: hp.owl
created_by: peter
creation_date: 2011-10-18T02:04:35Z
database_cross_reference: UMLS:C4023512
alternative_term: Myoclonic absences
alternative_term: myoclonic absence seizure
has_obo_namespace: human_phenotype
id: HP:0011150
from ILAE: true

Focal motor seizure
type: Class
subclass of: focal seizure classification by onset feature
definition: A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation.
imported from: hp.owl
created_by: peter
creation_date: 2011-10-18T02:33:17Z
database_cross_reference: MSH:D020938
database_cross_reference: SNOMEDCT_US:128612007
database_cross_reference: SNOMEDCT_US:82401000
database_cross_reference: UMLS:C0016399
has definition: A motor onset seizure involves motor activity (movement) and may be due to either an increase or decrease in contraction in a muscle or group of muscles. Depending on the muscle groups involved and the way they are affected, the movement features of a motor onset seizure may be simple or more complex.
alternative_term: Focal motor seizures
alternative_term: Localised motor seizure
alternative_term: Localized motor seizure
alternative_term: Localized motor seizures
alternative_term: Partial motor seizure
alternative_term: Partial motor seizures
alternative_term: Segmental motor seizure
has_obo_namespace: human_phenotype
id: HP:0011153
comment: A motor onset seizure involves motor activity (movement) and may be due to either an increase or decrease in contraction in a muscle or group of muscles. Depending on the muscle groups involved and the way they are affected, the movement features of a motor onset seizure may be simple or more complex.
from article: true
from ILAE: true

Axiom
annotated source: Focal motor seizure
annotated property: hasDefinition
annotated target: A motor onset seizure involves motor activity (movement) and may be due to either an increase or decrease in contraction in a muscle or group of muscles. Depending on the muscle groups involved and the way they are affected, the movement features of a motor onset seizure may be simple or more complex.

Focal autonomic seizure
type: Class
subclass of: focal non-motor onset seizure
definition: Focal seizures with an objectively documented and distinct alteration of autonomic nervous system function involving cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor and thermoregularity functions.
imported from: hp.owl
created_by: peter
creation_date: 2011-10-18T02:23:31Z
database_cross_reference: UMLS:C4023509
has definition: Are characterized by alterations in systems controlled by the autonomic nervous system at seizure onset. These may occur with or without objective clinical signs of a seizure evident to the observer.
alternative_term: Focal autonomic seizures
alternative_term: autonomic
has_obo_namespace: human_phenotype
id: HP:0011154
from ILAE: true

Axiom
annotated source: Focal autonomic seizure
annotated property: hasDefinition
annotated target: Are characterized by alterations in systems controlled by the autonomic nervous system at seizure onset. These may occur with or without objective clinical signs of a seizure evident to the observer.

Focal sensory seizure
type: Class
subclass of: focal non-motor onset seizure
definition: A focal sensory seizure involves a sensation being experienced at seizure onset, without objective clinical signs of a seizure evident to the observer.
imported from: hp.owl
created_by: peter
creation_date: 2011-10-18T02:26:40Z
database_cross_reference: MSH:D004827
database_cross_reference: SNOMEDCT_US:18618006
database_cross_reference: UMLS:C0236018
alternative_term: Epileptic aura
alternative_term: sensory
has_obo_namespace: human_phenotype
id: HP:0011157
from ILAE: true

Focal sensory auditory seizure
type: Class
subclass of: Focal sensory seizure
definition: A type of focal sensory seizure that is characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones.
imported from: hp.owl
created_by: peter
creation_date: 2011-10-18T02:26:59Z
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/15642493
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/27857611
database_cross_reference: UMLS:C1838063
has definition: Characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones. More complex auditory hallucinations such as voices are considered a focal cognitive seizure. Focal sensory auditory seizures involve auditory cortex in the lateral superior temporal lobe.
alternative_term: Auditory Aura
alternative_term: Auditory aura
has_obo_namespace: human_phenotype
has_related_synonym: Complex Auditory Aura
has_related_synonym: Simple Auditory Aura
id: HP:0011158
comment: More complex auditory hallucinations such as voices are considered a focal cognitive seizure. Focal sensory auditory seizures involve auditory cortex in the lateral superior temporal lobe.
from ILAE: true
from pub med: true

Axiom
annotated source: Focal sensory auditory seizure
annotated property: hasDefinition
annotated target: Characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones. More complex auditory hallucinations such as voices are considered a focal cognitive seizure. Focal sensory auditory seizures involve auditory cortex in the lateral superior temporal lobe.

Epigastric auras
type: Class
subclass of: seizure
definition: Auras with abdominal discomfort including nausea, emptiness, tightness, churning, butterflies, malaise, pain, and hunger; sensation may rise to chest or throat. Some phenomena may reflect ictal autonomic dysfunction.
imported from: hp.owl
created_by: peter
creation_date: 2011-10-18T02:27:58Z
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/10919145
database_cross_reference: UMLS:C4023506
alternative_term: Abdominal aura
alternative_term: Visceral aura
has_obo_namespace: human_phenotype
id: HP:0011159
from ESSO: true
from pub med: true

Focal sensory gustatory seizure
type: Class
subclass of: Focal sensory seizure
definition: Auras with taste sensations including acidic, bitter, salty , sweet or metallic tastes.
imported from: hp.owl
created_by: peter
creation_date: 2011-10-18T02:28:36Z
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/15642493
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/27857611
database_cross_reference: MSH:D006212
database_cross_reference: SNOMEDCT_US:29139005
database_cross_reference: UMLS:C0233766
has definition: Characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes. These seizures involve the parietal operculum and the insula.
alternative_term: Gustatory aura
alternative_term: Gustatory auras
alternative_term: Taste hallucinations
has_obo_namespace: human_phenotype
id: HP:0011160
from ILAE: true
from pub med: true

Axiom
annotated source: Focal sensory gustatory seizure
annotated property: hasDefinition
annotated target: Characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes. These seizures involve the parietal operculum and the insula.

Olfactory auras
type: Class
subclass of: Focal sensory seizure
definition: Auras with sensation of odor, usually disagreeable.
imported from: hp.owl
created_by: peter
creation_date: 2011-10-18T02:28:55Z
database_cross_reference: UMLS:C4023504
has definition: Characterized by olfactory phenomena - usually an odor, which is often unpleasant. These seizures involve the mesial temporal or orbitofrontal regions.
has_obo_namespace: human_phenotype
id: HP:0011161
from ESSO: true

Axiom
annotated source: Olfactory auras
annotated property: hasDefinition
annotated target: Characterized by olfactory phenomena - usually an odor, which is often unpleasant. These seizures involve the mesial temporal or orbitofrontal regions.

Psychic auras
type: Class
subclass of: seizure
definition: Auras with affective, mnemonic or composite perceptual phenomena including illusory or composite hallucinatory events.
imported from: hp.owl
created_by: peter
creation_date: 2011-10-18T02:29:23Z
database_cross_reference: UMLS:C4023503
has_obo_namespace: human_phenotype
id: HP:0011162
comment: Events may appear alone or in combination. Included are feelings of depersonalisation. These phenomena have subjective qualities similar to those experienced in life but are recognised by the subject as occurring outside of actual context.

Somatosensory auras
type: Class
subclass of: Focal sensory seizure
definition: Auras with sensation of tingling, numbness, electric shock sensations, pain, sense of movement, or desire to move.
imported from: hp.owl
created_by: peter
creation_date: 2011-10-18T02:29:52Z
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/15911361
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26249726
database_cross_reference: UMLS:C4023502
has definition: Characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move. These seizures involve the sensorimotor cortex.
alternative_term: Somatosensory auras
has_obo_namespace: human_phenotype
id: HP:0011163
from ESSO: true
from ILAE: true
from pub med: true

Axiom
annotated source: Somatosensory auras
annotated property: hasDefinition
annotated target: Characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move. These seizures involve the sensorimotor cortex.

Vegetative auras
type: Class
subclass of: seizure
definition: A sensation consistent with involvement of the autonomic nervous system, including cardiovascular, gastrointestinal, sudomotor, vasomotor and thermoregulatory functions.
imported from: hp.owl
created_by: peter
creation_date: 2011-10-18T02:30:10Z
has db x ref: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3432285/
database_cross_reference: UMLS:C4021200
alternative_term: Autonomic Aura
alternative_term: Autonomic auras
has_obo_namespace: human_phenotype
id: HP:0011164
from pub med: true

Visual auras
type: Class
subclass of: Focal sensory seizure
definition: Auras with sensation of flashing or flickering lights, spots, simple patterns, scotomata, or amaurosis.
imported from: hp.owl
created_by: peter
creation_date: 2011-10-18T02:31:15Z
has_alternative_id: HP:0007175
database_cross_reference: UMLS:C1850765
has definition: Characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis. More complex visual hallucinations such as seeing formed images are considered a focal cognitive seizure. Focal sensory visual seizures arise in the occipital lobe.
has_obo_namespace: human_phenotype
id: HP:0011165
comment: Note that there is a distinction between Visual aura and Simple partial occipital seizures. See HPO term HP:0025121 for comments.
from article: true
from ESSO: true
from ILAE: true

Axiom
annotated source: Visual auras
annotated property: hasDefinition
annotated target: Characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis. More complex visual hallucinations such as seeing formed images are considered a focal cognitive seizure. Focal sensory visual seizures arise in the occipital lobe.

Focal myoclonic seizures
type: Class
subclass of: Focal motor seizure
imported from: hp.owl
created_by: peter
creation_date: 2011-10-18T02:34:14Z
database_cross_reference: UMLS:C4023501
has definition: A single or short cluster of brief muscle contractions (jerks), each jerk is typically milliseconds in duration.
alternative_term: Local myoclonic seizures
alternative_term: Partial myoclonic seizures
has_obo_namespace: human_phenotype
id: HP:0011166
from ILAE: true

Axiom
annotated source: Focal myoclonic seizures
annotated property: hasDefinition
annotated target: A single or short cluster of brief muscle contractions (jerks), each jerk is typically milliseconds in duration.

Focal tonic seizures
type: Class
subclass of: Focal motor seizure
definition: Seizures with sustained increase in muscle contraction in parts of the body lasting a few seconds to minutes.
imported from: hp.owl
created_by: peter
creation_date: 2011-10-18T02:35:03Z
database_cross_reference: MSH:D020938
database_cross_reference: UMLS:C0752324
has definition: Increased muscle tone, usually lasting for seconds to minute
alternative_term: Local tonic seizures
alternative_term: Partial tonic seizures
has_obo_namespace: human_phenotype
id: HP:0011167
from article: true
from ILAE: true

Axiom
annotated source: Focal tonic seizures
annotated property: hasDefinition
annotated target: Increased muscle tone, usually lasting for seconds to minute

Hyperkinetic seizures
type: Class
subclass of: Focal motor seizure
definition: Seizures with increase in rate of ongoing movements or inappropriately rapid performance of a movement involving predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrashing, rocking movements.
imported from: hp.owl
created_by: hecht
creation_date: 2011-11-19T10:13:17Z
database_cross_reference: UMLS:C4023497
has definition: This seizure type involves movements of proximal limb or axial muscles, producing irregular large amplitude movements, such as pedaling, pelvic thrusting, jumping, thrashing and/or rocking movements.
alternative_term: focal hyperkinetic seizure
has_obo_namespace: human_phenotype
id: HP:0011174
from article: true
from ILAE: true

Axiom
annotated source: Hyperkinetic seizures
annotated property: hasDefinition
annotated target: This seizure type involves movements of proximal limb or axial muscles, producing irregular large amplitude movements, such as pedaling, pelvic thrusting, jumping, thrashing and/or rocking movements.

Versive seizures
type: Class
subclass of: seizure
definition: Tonic seizures with a sustained, forced conjugate ocular, cephalic and/or truncal rotation or lateral deviation from the midline.
imported from: hp.owl
created_by: hecht
creation_date: 2011-11-19T10:14:54Z
database_cross_reference: MSH:D020938
database_cross_reference: SNOMEDCT_US:246530009
database_cross_reference: UMLS:C0422846
has_obo_namespace: human_phenotype
id: HP:0011175
from ESSO: true

Interictal epileptiform activity
type: Class
subclass of: Interictal EEG abnormality
definition: Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure.
imported from: hp.owl
created_by: hecht
creation_date: 2011-11-19T10:32:25Z
database_cross_reference: UMLS:C4023491
alternative_term: Epileptiform EEG discharges
has_obo_namespace: human_phenotype
id: HP:0011182
comment: Epileptiform EEG discharges include small sharp spikes (SSSs), wicket spikes, 14- and 6-Hz positive spikes, phantom spike and waves, psychomotor variant, subclinical rhythmic EEG discharges of adults (SREDA), and midline theta rhythm.

EEG with focal epileptiform discharges
type: Class
subclass of: Interictal epileptiform activity
definition: EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).
imported from: hp.owl
created_by: hecht
creation_date: 2011-11-19T10:39:02Z
has_alternative_id: HP:0010840
database_cross_reference: UMLS:C4021199
alternative_term: Focal EEG Abnormality
has_obo_namespace: human_phenotype
id: HP:0011185
comment: Note that a focal EEG abnormality is not synonymous with "focal epileptiform discharges" because a focal EEG abnormality is not necessarily epileptiform (e.g., it could be a focal slowing).

Focal epileptiform discharges with limited propagation to contralateral hemisphere
type: Class
subclass of: EEG with focal epileptiform discharges
definition: Focal epileptiform discharges with spreading to contralateral hemisphere but without secondary generalization.
imported from: hp.owl
created_by: hecht
creation_date: 2011-11-19T10:40:22Z
database_cross_reference: UMLS:C4023488
has_obo_namespace: human_phenotype
id: HP:0011186

EEG with generalized epileptiform discharges
type: Class
subclass of: Interictal epileptiform activity
definition: EEG discharges recorded on the entire scalp typically seen in persons with epilepsy.
imported from: hp.owl
created_by: hecht
creation_date: 2011-11-19T11:15:46Z
has_alternative_id: HP:0010842
database_cross_reference: UMLS:C4023476
alternative_term: EEG with generalised epileptiform discharges
has_obo_namespace: human_phenotype
has_related_synonym: EpileptiFormPattern
has_related_synonym: Epileptiform Discharge
id: HP:0011198
comment: 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.
from EPILONT: true
from ESSO: true

EEG with abnormally slow frequencies
type: Class
subclass of: EEG abnormality
definition: EEG with abnormally slow frequencies.
imported from: hp.owl
created_by: hecht
creation_date: 2011-11-19T11:26:47Z
database_cross_reference: UMLS:C4023471
has_obo_namespace: human_phenotype
id: HP:0011203

EEG with continuous slow activity
type: Class
subclass of: EEG with generalized slow activity
definition: EEG showing diffuse slowing without interruption.
imported from: hp.owl
created_by: hecht
creation_date: 2011-11-19T11:28:47Z
database_cross_reference: UMLS:C4023470
alternative_term: electroencephalogram with continuous slow activity
has_obo_namespace: human_phenotype
has_related_synonym: Continous Slow Activity
id: HP:0011204
from ESSO: true

EEG with intermittent slow activity
type: Class
subclass of: EEG with generalized slow activity
definition: Non-continuous diffuse slowing of electroencephalographic patterns.
imported from: hp.owl
created_by: hecht
creation_date: 2011-11-19T11:30:20Z
database_cross_reference: UMLS:C4023469
has_obo_namespace: human_phenotype
has_related_synonym: Intermittent Slow
has_related_synonym: Intermittent Slow Activity
id: HP:0011205
from ESSO: true

Vascular skin abnormality
type: Class
subclass of: Abnormality of the vasculature
subclass of: Generalized abnormality of skin
imported from: hp.owl
created_by: peter
creation_date: 2011-12-29T08:52:53Z
database_cross_reference: MSH:D017445
database_cross_reference: SNOMEDCT_US:11263005
database_cross_reference: UMLS:C0162819
database_cross_reference: UMLS:C1842892
alternative_term: Skin vascular malformation
has_obo_namespace: human_phenotype
has_related_synonym: Vascular abnormalities restricted to skin
id: HP:0011276

Generalized abnormality of skin
type: Class
subclass of: Abnormality of skin morphology
definition: An abnormality of the skin that is not localized to any one particular region.
imported from: hp.owl
created_by: peter
creation_date: 2012-03-01T01:55:07Z
database_cross_reference: UMLS:C4021157
alternative_term: Generalised abnormality of skin
alternative_term: Generalized abnormality of skin
has_obo_namespace: human_phenotype
id: HP:0011354

Abnormality of central motor function
type: Class
subclass of: Abnormality of nervous system physiology
definition: An anomaly of the control or production of movement in the central nervous system.
imported from: hp.owl
created_by: peter
creation_date: 2012-03-18T02:29:04Z
database_cross_reference: UMLS:C4023354
has_obo_namespace: human_phenotype
id: HP:0011442

Abnormality of higher mental function
type: Class
subclass of: Abnormality of nervous system physiology
definition: Cognitive, psychiatric or memory anomaly.
imported from: hp.owl
created_by: peter
creation_date: 2012-03-18T04:23:59Z
database_cross_reference: UMLS:C4023352
has_obo_namespace: human_phenotype
id: HP:0011446

Unusual CNS infection
type: Class
subclass of: Morphological abnormality of the central nervous system
definition: A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection.
imported from: hp.owl
created_by: peter
creation_date: 2012-03-18T05:57:29Z
database_cross_reference: MSH:D002494
database_cross_reference: SNOMEDCT_US:128117002
database_cross_reference: UMLS:C0007684
alternative_term: Central nervous system infection
has_obo_namespace: human_phenotype
id: HP:0011450

Abdominal symptom
type: Class
subclass of: Abnormality of digestive system physiology
imported from: hp.owl
created_by: peter
creation_date: 2012-03-25T05:35:45Z
database_cross_reference: UMLS:C0740651
has_obo_namespace: human_phenotype
id: HP:0011458

Abnormality of joint mobility
type: Class
subclass of: Abnormality of skeletal physiology
definition: An abnormality in the range and ease of motion of joints across their normal range.
imported from: hp.owl
created_by: peter
creation_date: 2012-04-18T07:09:28Z
database_cross_reference: UMLS:C4023216
has_obo_namespace: human_phenotype
id: HP:0011729

Abnormality of facial soft tissue
type: Class
subclass of: Abnormality of the face
imported from: hp.owl
created_by: peter
creation_date: 2012-04-23T07:27:57Z
database_cross_reference: UMLS:C4023183
alternative_term: Abnormality of facial soft tissue
alternative_term: Anomaly of facial soft tissue
has_narrow_synonym: Deformity of facial soft tissue
has_narrow_synonym: Malformation of facial soft tissue
has_obo_namespace: human_phenotype
id: HP:0011799

Abnormal muscle physiology
type: Class
subclass of: Abnormality of the musculature
definition: A functional abnormality of a skeletal muscle.
imported from: hp.owl
created_by: peter
creation_date: 2012-04-25T02:00:15Z
database_cross_reference: UMLS:C4023182
alternative_term: Abnormality of muscle physiology
alternative_term: Issue with muscle function
has_obo_namespace: human_phenotype
id: HP:0011804

Abnormal skeletal muscle morphology
type: Class
subclass of: Abnormality of the musculature
definition: A structural abnormality of a skeletal muscle.
imported from: hp.owl
created_by: peter
creation_date: 2012-04-25T02:00:34Z
has_alternative_id: HP:0003735
database_cross_reference: UMLS:C4023181
alternative_term: Abnormal muscle morphology
alternative_term: Abnormality of muscle morphology
alternative_term: Abnormally shaped muscle
alternative_term: Issue with muscle structure
has_obo_namespace: human_phenotype
id: HP:0011805

Abnormality of skeletal morphology
type: Class
subclass of: Abnormality of the skeletal system
definition: An abnormality of the form, structure, or size of the skeletal system.
imported from: hp.owl
created_by: peter
creation_date: 2012-05-07T08:08:37Z
database_cross_reference: UMLS:C4023165
alternative_term: Abnormally shaped skeletal
has_obo_namespace: human_phenotype
id: HP:0011842

Abnormality of skeletal physiology
type: Class
subclass of: Abnormality of the skeletal system
definition: An abnormality of the function of the skeletal system.
imported from: hp.owl
created_by: peter
creation_date: 2012-05-07T08:09:43Z
database_cross_reference: UMLS:C4023164
has_obo_namespace: human_phenotype
id: HP:0011843

EEG with generalized spikes
type: Class
subclass of: EEG with generalized epileptiform discharges
definition: EEG with generalized sharp transient waves of a duration less than 80 msec.
imported from: hp.owl
created_by: hecht
creation_date: 2012-07-20T11:39:52Z
database_cross_reference: UMLS:C2206531
alternative_term: EEG with generalised spikes
alternative_term: electroencephalogram with generalized spike
has_obo_namespace: human_phenotype
has_related_synonym: Spike Wave
id: HP:0012000
from EPILONT: true
from ESSO: true

EEG with generalized polyspikes
type: Class
subclass of: EEG with generalized epileptiform discharges
definition: EEG with repetitive generalized sharp transient waves of a duration less than 80 msec.
imported from: hp.owl
created_by: hecht
creation_date: 2012-07-20T11:41:07Z
database_cross_reference: UMLS:C4023088
alternative_term: EEG with generalised polyspikes
alternative_term: electroencephalogram with generalized polyspike
has_obo_namespace: human_phenotype
has_related_synonym: PolySpike
id: HP:0012001

Experiential auras
type: Class
subclass of: seizure
definition: Affective, mnemonic or composite perceptual auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context.
imported from: hp.owl
created_by: hecht
creation_date: 2012-07-20T11:50:13Z
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/12134331
database_cross_reference: UMLS:C4023087
has_obo_namespace: human_phenotype
id: HP:0012002
comment: See the Glossary of Descriptive Terminology for Ictal Semiology at http://www.ilae.org.
from pub med: true

Mnemonic auras
type: Class
subclass of: Experiential auras
definition: Auras which reflect ictal dysmnesia such as: feelings as familiarity (deja-vu) and unfamiliarity (jamais-vu).
imported from: hp.owl
created_by: hecht
creation_date: 2012-07-20T11:53:39Z
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/12609279
database_cross_reference: UMLS:C4023085
alternative_term: mnemonic
has_obo_namespace: human_phenotype
id: HP:0012004
comment: See the Glossary of Descriptive Terminology for Ictal Semiology at http://www.ilae.org.
from ESSO: true
from pub med: true

Deja vu
type: Class
subclass of: Mnemonic auras
definition: A subjective feeling that an experience which is occurring for the first time has been experienced before.
imported from: hp.owl
created_by: hecht
creation_date: 2012-07-20T11:54:16Z
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK2605/
database_cross_reference: MSH:D003690
database_cross_reference: SNOMEDCT_US:313005
database_cross_reference: UMLS:C0011194
alternative_term: Deja vu
has_obo_namespace: human_phenotype
id: HP:0012005
from ESSO: true
from NCBI book: true

Jamais vu
type: Class
subclass of: Mnemonic auras
definition: A subjective feeling that an experience which has occurred before is being experienced for the first time.
imported from: hp.owl
created_by: hecht
creation_date: 2012-07-20T11:55:38Z
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK2605/
database_cross_reference: SNOMEDCT_US:28249008
database_cross_reference: UMLS:C0233803
has_obo_namespace: human_phenotype
id: HP:0012006
from ESSO: true
from NCBI book: true

Abnormal eye morphology
type: Class
subclass of: Abnormality of the eye
definition: A structural anomaly of the globe of the eye, or bulbus oculi.
imported from: hp.owl
created_by: peter
creation_date: 2013-10-13T03:44:43Z
has_alternative_id: HP:0000489
has_alternative_id: HP:0012374
database_cross_reference: Fyler:4863
database_cross_reference: UMLS:C4022925
alternative_term: Abnormal eye morphology
alternative_term: Abnormality of the globe
alternative_term: Abnormally shaped eye
has_obo_namespace: human_phenotype
id: HP:0012372
comment: previously: Abnormal globe morphology

Abnormal eye physiology
type: Class
subclass of: Abnormality of the eye
definition: A functional anomaly of the eye.
imported from: hp.owl
created_by: peter
creation_date: 2013-10-13T03:45:37Z
database_cross_reference: UMLS:C4022924
alternative_term: Abnormal eye physiology
has_obo_namespace: human_phenotype
id: HP:0012373

Hemianopia
type: Class
subclass of: Visual field defect
definition: Partial or complete loss of vision in one half of the visual field of one or both eyes.
imported from: hp.owl
created_by: peter
creation_date: 2013-10-13T07:55:21Z
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30068811
database_cross_reference: MSH:D006423
database_cross_reference: SNOMEDCT_US:77674003
database_cross_reference: UMLS:C0018979
alternative_term: Hemianopsia
has_obo_namespace: human_phenotype
id: HP:0012377
from ESSO: true
from pub med: true

Abnormal blood gas level
type: Class
subclass of: Functional respiratory abnormality
definition: An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood.
imported from: hp.owl
created_by: peter
creation_date: 2013-11-10T04:59:20Z
database_cross_reference: SNOMEDCT_US:312391003
database_cross_reference: UMLS:C0476337
alternative_term: Abnormal blood gas level
has_obo_namespace: human_phenotype
id: HP:0012415

Hypoxemia
type: Class
subclass of: Abnormal blood oxygen level
definition: An abnormally low level of blood oxygen.
imported from: hp.owl
created_by: peter
creation_date: 2013-11-10T05:07:07Z
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/22791548
database_cross_reference: MSH:D000860
database_cross_reference: SNOMEDCT_US:389087006
database_cross_reference: UMLS:C0700292
alternative_term: Low blood oxygen level
has_obo_namespace: human_phenotype
has_related_synonym: Hypoxia
id: HP:0012418
comment: Note that hypoxemia is defined as a condition where arterial oxygen tension is below normal (80-100mmHg). Hypoxia is defined as the failure of oxygenation at the tissue level. Hypoxia is not measured directly by a standard laboratory value.
from pub med: true

Abnormality of brain morphology
type: Class
subclass of: Morphological abnormality of the central nervous system
definition: A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.
imported from: hp.owl
created_by: peter
creation_date: 2013-11-23T02:38:00Z
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30661063
database_cross_reference: UMLS:C4021085
alternative_term: Abnormal shape of brain
alternative_term: Abnormality of the brain
has_obo_namespace: human_phenotype
id: HP:0012443

Metamorphopsia
type: Class
subclass of: Abnormality of vision
definition: A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank.
imported from: hp.owl
created_by: peter
creation_date: 2013-12-08T08:21:46Z
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28488762
database_cross_reference: MSH:D014786
database_cross_reference: SNOMEDCT_US:42134006
database_cross_reference: UMLS:C0271185
has_obo_namespace: human_phenotype
id: HP:0012508
from ESSO: true
from pub med: true

Abnormality of nervous system physiology
type: Class
subclass of: Abnormality of the nervous system
definition: A functional anomaly of the nervous system.
imported from: hp.owl
created_by: peter
creation_date: 2014-01-19T08:02:46Z
database_cross_reference: UMLS:C4022811
has_obo_namespace: human_phenotype
id: HP:0012638

Abnormality of nervous system morphology
type: Class
subclass of: Abnormality of the nervous system
definition: A structural anomaly of the nervous system.
imported from: hp.owl
created_by: peter
creation_date: 2014-01-19T08:03:08Z
database_cross_reference: Fyler:4135
database_cross_reference: Fyler:4300
database_cross_reference: UMLS:C4022810
alternative_term: Abnormal nervous system morphology
alternative_term: Abnormal shape of nervous system
has_obo_namespace: human_phenotype
id: HP:0012639

Vasovagal syncope
type: Class
subclass of: Syncope
imported from: hp.owl
created_by: peter
creation_date: 2014-02-15T01:33:13Z
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/18777476
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/23365482
database_cross_reference: MSH:D013575
database_cross_reference: MSH:D019462
database_cross_reference: SNOMEDCT_US:234167006
database_cross_reference: SNOMEDCT_US:398652001
database_cross_reference: SNOMEDCT_US:398665005
database_cross_reference: UMLS:C0042420
database_cross_reference: UMLS:C0340854
has definition: Vasovagal syncope affects all ages from infancy to old age though younger children may present initially with reflex anoxic seizures. A detailed history will usually identify triggers including prolonged standing, dehydration, change in posture and emotional upset.
alternative_term: Neurocardiogenic syncope
alternative_term: Reflex syncope
alternative_term: Situational syncope
has_obo_namespace: human_phenotype
id: HP:0012668
from ILAE: true
from pub med: true

Axiom
annotated source: Vasovagal syncope
annotated property: hasDefinition
annotated target: Vasovagal syncope affects all ages from infancy to old age though younger children may present initially with reflex anoxic seizures. A detailed history will usually identify triggers including prolonged standing, dehydration, change in posture and emotional upset.

Functional abnormality of the gastrointestinal tract
type: Class
subclass of: Abnormality of the gastrointestinal tract
subclass of: Abnormality of digestive system physiology
definition: Abnormal functionality of the gastrointestinal tract.
imported from: hp.owl
created_by: peter
creation_date: 2014-03-23T01:10:47Z
database_cross_reference: UMLS:C4022755
alternative_term: Functional abnormality of the GI tract
alternative_term: GI dysfunction
has_obo_namespace: human_phenotype
id: HP:0012719

Epilepsia partialis continua
type: Class
subclass of: Focal motor seizure
definition: Epilepsia partialis continua (also called Kojevnikov's or Kozhevnikov's epilepsia) is a type of focal motor status epilepticus characterized by repeated stereotyped simple motor manifestations such as jerks, typically of a limb or the face, recurring every few seconds or minutes for extended periods (days or years).
imported from: hp.owl
created_by: peter
creation_date: 2014-06-06T08:09:22Z
database_cross_reference: MSH:D017036
database_cross_reference: SNOMEDCT_US:241006
database_cross_reference: UMLS:C0085543
has definition: Epilepsia partialis continua refers to recurrent focal motor seizures (typically affecting hand and face, although other body parts may be affected), that occur every few seconds or minutes for extended periods (days or years). The focal motor features may exhibit a Jacksonian march. A Todd's paresis may be seen in the affected body part.
alternative_term: Epilepsia partialis continua of Kojevnikov
alternative_term: Kojevnikov's epilepsia
alternative_term: Kozhevnikov's epilepsia
has_obo_namespace: human_phenotype
id: HP:0012847
comment: The focal motor features may exhibit a Jacksonian march and a post-ictal (Todd's) paresis may be seen in the affected body part.
from ILAE: true

Axiom
annotated source: Epilepsia partialis continua
annotated property: hasDefinition
annotated target: Epilepsia partialis continua refers to recurrent focal motor seizures (typically affecting hand and face, although other body parts may be affected), that occur every few seconds or minutes for extended periods (days or years). The focal motor features may exhibit a Jacksonian march. A Todd's paresis may be seen in the affected body part.

Reflex seizure
type: Class
subclass of: seizure
definition: Seizures precipitated by exogenous stimuli.
imported from: hp.owl
created_by: robinp
creation_date: 2020-02-24T13:36:35Z
comment: Included in 2001 ILAE Proposed Classification of Seizures. Seizures precipitated by fever, head injury, or alcohol withdrawal or anti-epileptic medication withdrawal are not provoked seizures.

Motor seizure
type: Class
subclass of: seizure
definition: A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.
imported from: hp.owl
created_by: robinp
creation_date: 2020-02-24T14:20:36Z
comment: This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized.

Focal atonic seizure
type: Class
subclass of: Focal motor seizure
definition: A focal seizure characterized at onset by sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic activity, typically lasting more than 500 ms but less than 2 seconds. It may involve the head, trunk, jaw or limb musculature.
imported from: hp.owl
created_by: robinp
creation_date: 2020-02-24T14:54:22Z
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/20627778
has definition: Sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic activity, typically lasting >500 milliseconds but < 2 seconds. It may involve the head, trunk, jaw or limb musculature.
alternative_term: Localised atonic seizure
alternative_term: Localised hypotonic seizure
alternative_term: Localized atonic seizure
alternative_term: Localized hypotonic seizure
alternative_term: Partial atonic seizure
alternative_term: Partial hypotonic seizure
alternative_term: Segmental atonic seizure
alternative_term: Segmental hypotonic seizure
from article: true
from ILAE: true
from pub med: true

Axiom
annotated source: Focal atonic seizure
annotated property: hasDefinition
annotated target: Sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic activity, typically lasting >500 milliseconds but < 2 seconds. It may involve the head, trunk, jaw or limb musculature.

Abnormal vascular morphology
type: Class
subclass of: Abnormality of the vasculature
imported from: hp.owl
date: 2016-08-12T11:24:56Z
created_by: HPO:probinson

Abnormality of the digestive system
type: Class
subclass of: Phenotypic abnormality
imported from: hp.owl
date: 2016-08-27T13:44:32Z
created_by: HPO:probinson
comment: Any anomaly of the digestive system, a collection of organs that is made up of the gastrointestinal tract and the liver, pancreas, and gallbladder. The gastrointestinal tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus, including the mouth, esophagus, stomach, small intestine, large intestine and anus.

Abnormality of digestive system physiology
type: Class
subclass of: Abnormality of the digestive system
definition: A functional anomaly of the digestive system.
imported from: hp.owl
date: 2016-08-27T13:58:05Z
created_by: HPO:probinson

Eyelid myoclonus
type: Class
subclass of: Myoclonus
definition: Marked, involuntary jerking of the eyelids.
imported from: hp.owl
date: 2016-10-28T05:55:32Z
created_by: HPO:probinson
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/6820630
alternative_term: Blepharoclonus
has_related_synonym: Eyelid myoclonia
comment: Some literature refers to eyelid myoclonia as a disease entity (Jeavons syndrome) that is characterized by episodes of eyelid myoclonus with absences.
from ESSO: true
from pub med: true

Constitutional symptom
type: Class
subclass of: Phenotypic abnormality
definition: A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual.
imported from: hp.owl
date: 2016-11-29T11:02:54Z
created_by: HPO:probinson
comment: Note that we use the preferred term label constitutional symptom because this reflects common usage, but we do not restrict the term or its descendents to the narrow meaning of symptom, i.e., a complaint related by a patient to a physician. There is no generally accepted classification of what defines a constitutional symptom, but examples include weight loss, fatigue, general weakness, night sweats, shaking, chills, fever, and vomiting.

Shivering
type: Class
subclass of: Constitutional symptom
definition: Involuntary contraction or twitching of the muscles.
imported from: hp.owl
date: 2016-11-29T11:13:35Z
created_by: HPO:probinson
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK1169/#adnfle.Clinical_Characteristics
alternative_term: Shivering
alternative_term: Shuddering
comment: Shivering is a physiologic method of heat production in man and other mammals. Shivering is a bodily function in response to fever, early hypothermia or feeling cold.
from article: true
from NCBI book: true

Somnambulism
type: Class
subclass of: NREM parasomnia
definition: Ambulation or other complex motor behaviors after getting out of bed in a sleep-like state. During sleepwalking episodes, the sonambulating individual appears confused or dazed, the eyes are usually open, and he or she might mumble or give inappropriate answers to questions, or occasionally appear agitated.
imported from: hp.owl
date: 2016-12-14T12:01:00Z
created_by: HPO:probinson
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK2609/
alternative_term: Sleep walking
comment: During an episode of sleepwalking, the sonambulating child typically appears clumsy and might perform unusual actions such as urinating in a closet. Injuries can occur during sleepwalking, including falling downstairs or after leaving the house.
from ILAE: true

Snoring
type: Class
subclass of: sleep disturbance
definition: Deep, noisy breathing during sleep accompanied by hoarse or harsh sounds caused by the vibration of respiratory structures (especially the soft palate) resulting in sound due to obstructed air movement during breathing while sleeping.
imported from: hp.owl
date: 2016-12-18T13:24:58Z
created_by: HPO:probinson
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/22580903
alternative_term: Snore
alternative_term: Snores
alternative_term: Snoring symptoms
from pub med: true

Erratic myoclonus
type: Class
subclass of: Myoclonus
definition: A type of myoclonus in which the myoclonias shift from body region to another in a random and asynchronous fashion. Erratic myoclonus can affect the face or limbs, are brief, single or repetitive, very frequent and nearly continuous.
imported from: hp.owl
date: 2017-02-17T12:01:58Z
created_by: HPO:probinson
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK2599/
alternative_term: Fragmentary myoclonus
comment: Erratic may appear immediately after birth.Definition adapted from The Epilepsies: Seizures, Syndromes and Management; Chapter 5: Neonatal Seizures and Neonatal Syndromes; NCBI Book NBK2599.
from NCBI book: true

Interictal EEG abnormality
type: Class
subclass of: EEG abnormality
definition: Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge.
imported from: hp.owl
date: 2017-03-15T13:25:46Z
created_by: HPO:probinson
alternative_term: interictal electroencephalographic abnormality

Abnormal CSF metabolite level
type: Class
subclass of: Abnormality of the cerebrospinal fluid
definition: Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid.
imported from: hp.owl
date: 2017-05-05T10:24:32Z
created_by: HPO:probinson

Focal emotional seizure
type: Class
subclass of: focal non-motor onset seizure
definition: A type of focal-onset seizure characterized by alterations in mood or emotion, or the appearance of altered emotion without the subjective emotion, at seizure onset. These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer.
imported from: hp.owl
date: 2018-10-07T16:18:24Z
created_by: HPO:probinson
has definition: Focal emotional seizures are characterized by alterations in mood or emotion, or the appearance of altered emotion without the subjective emotion, at seizure onset. These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer.
alternative_term: emotional
from ILAE: true

Axiom
annotated source: Focal emotional seizure
annotated property: hasDefinition
annotated target: Focal emotional seizures are characterized by alterations in mood or emotion, or the appearance of altered emotion without the subjective emotion, at seizure onset. These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer.

Abscess
type: Class
subclass of: Abnormal immune system morphology
imported from: hp.owl
date: 2019-04-08T22:41:54Z
created_by: HPO:probinson

Brain abscess
type: Class
subclass of: Unusual CNS infection
subclass of: Abscess
definition: A collection of pus, immune cells, and other material in the brain.
imported from: hp.owl
database_cross_reference: MSH:D001922
database_cross_reference: SNOMEDCT_US:441806004
database_cross_reference: UMLS:C0006105
alternative_term: Brain abscess
alternative_term: cerebral abscess
comment: Brain abscess usually results from a bacterial or fungal infection.

Abnormality of central nervous system electrophysiology
type: Class
subclass of: Abnormal nervous system electrophysiology
imported from: hp.owl
database_cross_reference: UMLS:C4022597
alternative_term: Abnormality of CNS electrophysiology

Eyelid fasciculation
type: Class
subclass of: Abnormal eyelid movement
definition: Tiny, repetitive muscle contractions in the eyelids, causing the appearance of twitching.
imported from: hp.owl
database_cross_reference: UMLS:C4280682
alternative_term: Eyelid fluttering
alternative_term: Fasciculation of the eyelid
alternative_term: Muscle twitches in eye lid
alternative_term: Muscle twitches in eyelid
alternative_term: Twitching around eyes
from ESSO: true

Abnormal gastrointestinal motility
type: Class
subclass of: Functional abnormality of the gastrointestinal tract
definition: An anomaly of the muscular contractions that propel food though the gastrointestinal tract.
imported from: hp.owl
alternative_term: Abnormal GI motility

Abnormal peristalsis
type: Class
subclass of: Gastrointestinal dysmotility
definition: An anomaly of the wave-like muscle contractions of the digestive tract.
imported from: hp.owl

Abnormal systemic blood pressure
type: Class
subclass of: Abnormal cardiovascular system physiology
definition: A chronic deviation from normal pressure in the systemic arterial system.
imported from: hp.owl
date: 2017-04-18T13:55:40Z
created_by: robinp
alternative_term: Abnormal systemic BP

Impairment in personality functioning
type: Class
subclass of: Behavioral abnormality
definition: A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning.
imported from: hp.owl
date: 2017-09-17T16:30:45Z
created_by: peter
comment: The emergence of the self in childhood and adolescence is based on experience and perception, which then becomes organized into identity, which organizes further experience and perception. Identity is related to the individual's selfsameness and continuity in time.

Status epilepticus without prominent motor symptoms
type: Class
subclass of: Status epilepticus
definition: There is inconclusive evidence to precisely define the duration of the seizure; however, based on current evidence an operational threshold of 10 minutes is appropriate as beyond this a seizure is likely to be more prolonged. The individual may or may not be aware or in coma.
imported from: hp.owl
date: 2017-09-17T16:57:40Z
created_by: peter
alternative_term: Nonconvulsive status epilepticus

Abnormal ear physiology
type: Class
subclass of: Abnormality of the ear
definition: Any functional anomaly of the ear.
imported from: hp.owl
date: 2017-12-18T00:20:24Z
created_by: peter

Abnormal eyelid movement
type: Class
subclass of: Abnormal eyelid physiology
definition: An abnormality in voluntary or involuntary eyelid movements or their control.
imported from: hp.owl
date: 2018-01-28T12:51:02Z
created_by: peter

Palilalia
type: Class
subclass of: Neurological speech impairment
definition: Repetition of one's own words or phrases.
imported from: hp.owl
date: 2018-04-28T22:45:49Z
created_by: peter
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/22776676
from ESSO: true
from pub med: true

Abnormal oral physiology
type: Class
subclass of: Abnormality of the mouth
definition: A functional anomaly of the mouth (which is also known as the oral cavity).
imported from: hp.owl
date: 2018-04-29T14:50:56Z
created_by: peter
comment: The physiological functions of the mouth include salivary gland secretory function, mastication (chewing) and preparation of food for swallowing.

Hypometric upward saccades
type: Class
subclass of: Hypometric saccades
definition: Saccadic undershoot of upward saccadic eye movements, i.e., an upward saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.
imported from: hp.owl
date: 2018-05-04T02:39:32Z
created_by: peter
alternative_term: upward rolling of the eyes
from article: true
from ESSO: true

Abnormal eyelid physiology
type: Class
subclass of: Abnormal ocular adnexa physiology
definition: Any functional abnormality of the eyelid.
imported from: hp.owl
date: 2018-05-06T15:39:56Z
created_by: peter

Abnormal CSF glucose level
type: Class
subclass of: Abnormal CSF metabolite level
definition: A deviation from normal concentration of glucose content in the cerebrospinal fluid.
imported from: hp.owl
date: 2018-05-13T13:54:21Z
created_by: peter

Hyperglycorrhachia
type: Class
subclass of: Abnormal CSF glucose level
definition: Abnormally high glucose concentration in the cerebrospinal fluid.
imported from: hp.owl
date: 2018-05-13T13:55:26Z
created_by: peter
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26088882
alternative_term: Increased CSF glucose
has_related_synonym: CSF glucose increased AE
from pub med: true

Abnormality of the ocular adnexa
type: Class
subclass of: Abnormality of the orbital region
definition: An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.
imported from: hp.owl
date: 2018-09-03T00:17:49Z
created_by: peter

Abnormal ocular adnexa physiology
type: Class
subclass of: Abnormality of the ocular adnexa
definition: A functional anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.
imported from: hp.owl
date: 2018-09-03T00:18:45Z
created_by: peter

Focal cortical dysplasia
type: Class
subclass of: Malformations of Cortical Development
definition: A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons.
imported from: hp.owl
date: 2018-09-16T10:55:37Z
created_by: peter
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/22844307
has definition: Focal cortical dysplasias (FCD) are localized regions of malformed cerebral cortex. They are a common cause of focal seizures. They are classified by their neuropathological features.
comment: Focal cortical dysplasia is one of the most common entities associated with refractory epilepsy, especially in childhood.
from ILAE: true
from pub med: true

Axiom
annotated source: Focal cortical dysplasia
annotated property: hasDefinition
annotated target: Focal cortical dysplasias (FCD) are localized regions of malformed cerebral cortex. They are a common cause of focal seizures. They are classified by their neuropathological features.

Focal cortical dysplasia type I
type: Class
subclass of: Focal cortical dysplasia
definition: A type of focal cortical dysplasia that is characterized by abnormal cortical layering.
imported from: hp.owl
date: 2018-09-16T11:00:11Z
created_by: peter
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/31085954
has definition: FCD Type I refers to isolated lesions, which present either as radial (FCD Type Ia) or tangential (FCD Type Ib) dyslamination of the cortex, that may be identified in one or multiple lobes of the brain.
from ILAE: true
from pub med: true

Axiom
annotated source: Focal cortical dysplasia type I
annotated property: hasDefinition
annotated target: FCD Type I refers to isolated lesions, which present either as radial (FCD Type Ia) or tangential (FCD Type Ib) dyslamination of the cortex, that may be identified in one or multiple lobes of the brain.

Focal cortical dysplasia type Ia
type: Class
subclass of: Focal cortical dysplasia type I
definition: A subtype of focal cortical dysplasia type I that is characterized by abnormal radial cortical lamination.
imported from: hp.owl
date: 2018-09-16T11:03:23Z
created_by: peter
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/31085954
has definition: FCD Type I refers to isolated lesions, which present either as radial (FCD Type Ia) or tangential (FCD Type Ib) dyslamination of the cortex, that may be identified in one or multiple lobes of the brain.
alternative_term: FCD Type IA (Abnormal Radial Cortical Lamination)
from ILAE: true
from pub med: true

Axiom
annotated source: Focal cortical dysplasia type Ia
annotated property: hasDefinition
annotated target: FCD Type I refers to isolated lesions, which present either as radial (FCD Type Ia) or tangential (FCD Type Ib) dyslamination of the cortex, that may be identified in one or multiple lobes of the brain.

Focal cortical dysplasia type Ib
type: Class
subclass of: Focal cortical dysplasia type I
definition: A subtype of focal cortical dysplasia type I that is characterized by abnormal tangential cortical lamination.
imported from: hp.owl
date: 2018-09-16T11:05:32Z
created_by: peter
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/31085954
has definition: FCD Type I refers to isolated lesions, which present either as radial (FCD Type Ia) or tangential (FCD Type Ib) dyslamination of the cortex, that may be identified in one or multiple lobes of the brain.
alternative_term: FCD Type IB (Abnormal Tangential Cortical Lamination)
from ILAE: true
from pub med: true

Axiom
annotated source: Focal cortical dysplasia type Ib
annotated property: hasDefinition
annotated target: FCD Type I refers to isolated lesions, which present either as radial (FCD Type Ia) or tangential (FCD Type Ib) dyslamination of the cortex, that may be identified in one or multiple lobes of the brain.

Focal cortical dysplasia type Ic
type: Class
subclass of: Focal cortical dysplasia type I
definition: A subtype of focal cortical dysplasia type I that is characterized by abnormal radial and tangential cortical lamination.
imported from: hp.owl
date: 2018-09-16T11:06:34Z
created_by: peter
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/31085954
alternative_term: FCD Type IC (Abnormal Radial and Tangential Cortical Lamination)
from pub med: true

Focal cortical dysplasia type II
type: Class
subclass of: Focal cortical dysplasia
definition: A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities.
imported from: hp.owl
date: 2018-09-16T11:09:13Z
created_by: peter
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/31085954
has definition: FCD Type II is an isolated lesion characterized by cortical dyslamination and dysmorphic neurons without (Type IIa) or with balloon cells (Type IIb)
from ILAE: true
from pub med: true

Axiom
annotated source: Focal cortical dysplasia type II
annotated property: hasDefinition
annotated target: FCD Type II is an isolated lesion characterized by cortical dyslamination and dysmorphic neurons without (Type IIa) or with balloon cells (Type IIb)

Focal cortical dysplasia type IIa
type: Class
subclass of: Focal cortical dysplasia type II
definition: A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons, which present with a significantly enlarged cell body and nucleus, malorientation, abnormally distributed intracellular Nissl substance and cytoplasmic accumulation of neurofilament proteins.
imported from: hp.owl
date: 2018-09-16T11:11:20Z
created_by: peter
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/31085954
has definition: FCD Type II is an isolated lesion characterized by cortical dyslamination and dysmorphic neurons without (Type IIa) or with balloon cells (Type IIb)
alternative_term: FCD Type IIA (Dysmorphic Neuron)
comment: There are no balloon cells present (to be confirmed by immunohistochemistry). Discrimination of individual cortical layers is almost impossible (with the exception of Layer 1). Other cortical layer abnormalities are frequently encountered and should not be separately classified, including abnormal isocortical layer organization adjacent to the main lesion, as well as heterotopic neurons in Layer 1 or white matter.
from ILAE: true
from pub med: true

Axiom
annotated source: Focal cortical dysplasia type IIa
annotated property: hasDefinition
annotated target: FCD Type II is an isolated lesion characterized by cortical dyslamination and dysmorphic neurons without (Type IIa) or with balloon cells (Type IIb)

Focal cortical dysplasia type IIb
type: Class
subclass of: Focal cortical dysplasia type II
definition: A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons (significantly enlarged with accumulation of neurofilament proteins) and balloon cells.
imported from: hp.owl
date: 2018-09-16T11:12:48Z
created_by: peter
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/31085954
has definition: FCD Type II is an isolated lesion characterized by cortical dyslamination and dysmorphic neurons without (Type IIa) or with balloon cells (Type IIb)
alternative_term: FCD Type IIB (Dysmorphic Neurons and Balloon Cell)
comment: Cortical lamination is frequently disrupted with the exception of Layer 1. The myelin content may also be altered in underlying subcortical white matter. Other cortical layer abnormalities are frequently encountered and should not be separately classified, including abnormal isocortical layer organization adjacent to the main lesion, as well as heterotopic neurons in Layer 1 or white matter. Histopathologically similar lesions are observed in cortical tubers and other gross MCDs, i.e. hemimegalencephaly or schizencephaly.
from ILAE: true
from pub med: true

Axiom
annotated source: Focal cortical dysplasia type IIb
annotated property: hasDefinition
annotated target: FCD Type II is an isolated lesion characterized by cortical dyslamination and dysmorphic neurons without (Type IIa) or with balloon cells (Type IIb)

Focal cortical dysplasia type III
type: Class
subclass of: Focal cortical dysplasia
definition: A type of focal cortical dysplasia that is characterized by cortical lamination abnormalities associated with a principal lesion, usually adjacent to or affecting the same cortical area/lobe.
imported from: hp.owl
date: 2018-09-16T11:15:25Z
created_by: peter
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/31085954
has definition: FCD Type III describes FCD that occurs in combination with hippocampal sclerosis (FCD Type IIIa), with glioneuronal tumors (FCD Type IIIb), adjacent to vascular malformations (FCD Type IIIc) or in association with lesions acquired in early life, such as a previous ischemic injury (FCD Type IIId).
from ILAE: true
from pub med: true

Axiom
annotated source: Focal cortical dysplasia type III
annotated property: hasDefinition
annotated target: FCD Type III describes FCD that occurs in combination with hippocampal sclerosis (FCD Type IIIa), with glioneuronal tumors (FCD Type IIIb), adjacent to vascular malformations (FCD Type IIIc) or in association with lesions acquired in early life, such as a previous ischemic injury (FCD Type IIId).

Focal cortical dysplasia type IIIa
type: Class
subclass of: Focal cortical dysplasia type III
definition: A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organisation (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (HS, syn. Ammon's horn sclerosis).
imported from: hp.owl
date: 2018-09-16T11:16:43Z
created_by: peter
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/31085954
has definition: FCD Type III describes FCD that occurs in combination with hippocampal sclerosis (FCD Type IIIa), with glioneuronal tumors (FCD Type IIIb), adjacent to vascular malformations (FCD Type IIIc) or in association with lesions acquired in early life, such as a previous ischemic injury (FCD Type IIId).
alternative_term: FCD Type IIIA (Cortical Lamination Abnormality in the Temporal Lobe Associated with Hippocampal Sclerosis)
from ILAE: true
from pub med: true

Axiom
annotated source: Focal cortical dysplasia type IIIa
annotated property: hasDefinition
annotated target: FCD Type III describes FCD that occurs in combination with hippocampal sclerosis (FCD Type IIIa), with glioneuronal tumors (FCD Type IIIb), adjacent to vascular malformations (FCD Type IIIc) or in association with lesions acquired in early life, such as a previous ischemic injury (FCD Type IIId).

Focal cortical dysplasia type IIIb
type: Class
subclass of: Focal cortical dysplasia type III
definition: A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) and/or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to glial or glioneuronal tumor.
imported from: hp.owl
date: 2018-09-16T11:18:31Z
created_by: peter
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/31085954
has definition: FCD Type III describes FCD that occurs in combination with hippocampal sclerosis (FCD Type IIIa), with glioneuronal tumors (FCD Type IIIb), adjacent to vascular malformations (FCD Type IIIc) or in association with lesions acquired in early life, such as a previous ischemic injury (FCD Type IIId).
alternative_term: FCD Type IIIB (Cortical Lamination Adjacent to a Glial or Glioneuronal Tumor)
comment: This type of focal cortical dysplasia is associated with glial or glioneuronal tumors (Ganglioglioma, Dysembryoplastic Neuroepithelial Tumor (DNT, syn. DNET) or other epilepsy-associated neoplasms. It is important to exclude tumor infiltration in areas of cortical abnormalities before establishing the diagnosis of FCD. The etiology and pathogenesis of FCD Type IIIb remains to be determined, but is likely an acquired process.
from ILAE: true
from pub med: true

Axiom
annotated source: Focal cortical dysplasia type IIIb
annotated property: hasDefinition
annotated target: FCD Type III describes FCD that occurs in combination with hippocampal sclerosis (FCD Type IIIa), with glioneuronal tumors (FCD Type IIIb), adjacent to vascular malformations (FCD Type IIIc) or in association with lesions acquired in early life, such as a previous ischemic injury (FCD Type IIId).

Focal cortical dysplasia type IIIc
type: Class
subclass of: Focal cortical dysplasia type III
definition: A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural (cortical dyslamination, hypoplasia) or cytoarchitectural composition of the neocortex (hypertrophic neurons), which occur adjacent to vascular malformations (cavernomas, arteriovenous malformations, leptomeningeal vascular malformations, telangiectasias, meningioangiomatosis).
imported from: hp.owl
date: 2018-09-16T11:23:39Z
created_by: peter
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/31085954
has definition: FCD Type III describes FCD that occurs in combination with hippocampal sclerosis (FCD Type IIIa), with glioneuronal tumors (FCD Type IIIb), adjacent to vascular malformations (FCD Type IIIc) or in association with lesions acquired in early life, such as a previous ischemic injury (FCD Type IIId).
alternative_term: FCD Type IIIC (Cortical Lamination Adjacent to Vascular Malformation)
from ILAE: true
from pub med: true

Axiom
annotated source: Focal cortical dysplasia type IIIc
annotated property: hasDefinition
annotated target: FCD Type III describes FCD that occurs in combination with hippocampal sclerosis (FCD Type IIIa), with glioneuronal tumors (FCD Type IIIb), adjacent to vascular malformations (FCD Type IIIc) or in association with lesions acquired in early life, such as a previous ischemic injury (FCD Type IIId).

Focal cortical dysplasia type IIId
type: Class
subclass of: Focal cortical dysplasia type III
definition: A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to other lesions acquired during early life (not included into FCD Type IIIa-c). These lesions comprise a large spectrum including traumatic brain injury, glial scarring after prenatal or perinatal ischemic injury or bleeding, and inflammatory or infectious diseases, i.e. Rasmussen encephalitis, limbic encephalitis, bacterial or viral infections.
imported from: hp.owl
date: 2018-09-16T11:25:19Z
created_by: peter
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/31085954
has definition: FCD Type III describes FCD that occurs in combination with hippocampal sclerosis (FCD Type IIIa), with glioneuronal tumors (FCD Type IIIb), adjacent to vascular malformations (FCD Type IIIc) or in association with lesions acquired in early life, such as a previous ischemic injury (FCD Type IIId).
alternative_term: FCD Type IIID (Cortical Lamination Abnormality Adjacent to Any Other Lesion Acquired During Early Life)
from ILAE: true
from pub med: true

Axiom
annotated source: Focal cortical dysplasia type IIId
annotated property: hasDefinition
annotated target: FCD Type III describes FCD that occurs in combination with hippocampal sclerosis (FCD Type IIIa), with glioneuronal tumors (FCD Type IIIb), adjacent to vascular malformations (FCD Type IIIc) or in association with lesions acquired in early life, such as a previous ischemic injury (FCD Type IIId).

Abnormal circulating metabolite concentration
type: Class
subclass of: Abnormality of metabolism/homeostasis
definition: An abnormal level of an analyte measured in the blood.
imported from: hp.owl
date: 2019-01-12T13:45:59Z
created_by: peter

Abnormal immune system morphology
type: Class
subclass of: Abnormality of the immune system
imported from: hp.owl
date: 2019-01-27T16:44:33Z
created_by: peter

Granuloma
type: Class
subclass of: Abnormal immune system morphology
definition: A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis.
imported from: hp.owl
date: 2019-01-27T16:44:42Z
created_by: peter
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30711777
alternative_term: Granulomas
comment: Granulomas vary considerably in their degree of complexity, physical size and organization. Not surprisingly, their classification has attracted much attention, and a numbers of schemes have been described. The cornerstone of the granulomatous response, however, is the predominant involvement of mononuclear phagocytes. As granulomas develop, tissue-resident, as well as inflammatory mononuclear phagocytes become intimately acquainted, and these cells may develop highly differentiated epithelioid cell characteristics. In many cases, elegant multinucleate populations can be seen, distinct from the syncytia formed after viral infection as evident by their extended life-span. Accumulating lymphocytes, mainly T cells, contribute to the developing microarchitecture of the granuloma, often with characteristic patterns of subset organization relative to the core of mononuclear phagocytes and to each other. B lymphocytes, plasma cells, NK cells and neutrophils may all be present, though a relative paucity of neutrophils delineates these sites of inflammation from those associated with necrosis. At its extreme, the granuloma may serve as the focus for irreversible fibrotic reactions, but, even in less dramatic cases, a substantive degree of local tissue remodelling occurs.
from pub med: true

Family history
type: Class
subclass of: clinical history
definition: Information about close relatives of an individual who is the proband of a study or who is being investigated with the goal of identifying a medical diagnosis. Usually, the family history includes information from three generations of relatives, including children, brothers and sisters, parents, aunts and uncles, nieces and nephews, grandparents, and cousins.
imported from: hp.owl
date: 2019-02-14T11:40:50Z
created_by: peter
comment: This subontology is intended to help record summary information about family members if only a limited amount of information is available or required.
from article: true
from ESSO: true

Status epilepticus with prominent motor symptoms
type: Class
subclass of: Status epilepticus
definition: Status epilepticus with prominent motor signs during the prolonged seizure.
imported from: hp.owl
created_by: peter

Non-convulsive status epilepticus with coma
type: Class
subclass of: Status epilepticus without prominent motor symptoms
definition: A type of status epilepticus without prominent motor symptoms and in the presence of coma.
imported from: hp.owl
created_by: peter
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/19744116
alternative_term: Subtle status epilepticus
comment: This includes the entity subtle status epilepticus proposed by some authors as the late, burned-out stage of generalized convulsive status epilepticus characterized by (subtle rather than predominant) focal or multifocal myoclonic movements, coma, and pseudoperiodic epileptiform discharges against a slow low-voltage background on EEG.
from pub med: true

Convulsive status epilepticus
type: Class
subclass of: Status epilepticus with prominent motor symptoms
definition: A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between. comment: source: seeAlso: Tonic-clonic status epilepticus
imported from: hp.owl
created_by: peter
alternative_term: Tonic-clonic status epilepticus
comment: In 2015, the ILAE Task Force on Classification of Status Epilepticus did proposed that time t1 (indicating the time that emergency treatment should be started because the seizure is unlikely to terminate spontaneously) is 5 minutes and t2 (the time at which long-term consequences of the seizure may be expected) is 30 minutes for convulsive (tonic-clonic) status epilepticus.This 5-minute timeframe has been endorsed by the 2012 Neurocritical Care Society Guidelines and the 2016 American Epilepsy Society Guidelines to guide when emergent treatment for convulsive status epilepticus should start. This term includes convulsive status epilepticus of focal, generalized or unknown onset.

Generalized convulsive status epilepticus
type: Class
subclass of: Convulsive status epilepticus
definition: A type of bilateral convulsive seizure of generalized onset that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus.
imported from: hp.owl
created_by: peter
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26336950
alternative_term: Generalised convulsive status epilepticus
from pub med: true

Focal-onset seizure evolving into bilateral convulsive status epilepticus
type: Class
subclass of: Convulsive status epilepticus
definition: A type of bilateral convulsive seizure of focal onset (which could be with awareness or impaired awareness, either motor or non- motor) that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus.
imported from: hp.owl
created_by: peter
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26920416
alternative_term: Focal onset seizure evolving into bilateral convulsive status epilepticus
alternative_term: Focal-onset seizure evolving into generalized convulsive status epilepticus
alternative_term: Partial onset seizure evolving into convulsive status epilepticus
alternative_term: Partial-onset seizure evolving into convulsive status epilepticus
alternative_term: Secondarily generalised tonic-clonic status epilepticus
alternative_term: Secondarily generalized convulsive status epilepticus
alternative_term: Secondarily generalized tonic-clonic status epilepticus
from pub med: true

Focal motor status epilepticus
type: Class
subclass of: Status epilepticus with prominent motor symptoms
definition: Status epilepticus with focal motor signs originating within networks limited to one hemisphere. Involves musculature in any form. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.
imported from: hp.owl
created_by: peter
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/24977129
comment: Including aware and unaware focal motor status epilepticus, but note that hyperkinetic status epilepticus (of focal onset) is classified separately.
from pub med: true

Hyperkinetic status epilepticus
type: Class
subclass of: Status epilepticus with prominent motor symptoms
definition: Status epilepticus characterized by continuous hyperkinetic proximal limb or axial muscles producing irregular sequential ballistic movements such as pedaling pelvic thrusting, thrashing, or rocking movements.
imported from: hp.owl
created_by: peter
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26336950
comment: In 2015 the ILAE classified hyperkinetic status epilepticus separately from focal motor status epilepticus characterized by elemental motor features. Awareness may be intact or impaired.
from pub med: true

Myoclonic status epilepticus
type: Class
subclass of: Status epilepticus with prominent motor symptoms
definition: A type of motor status epilepticus with repeating bilateral sudden brief (less than 100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography.
imported from: hp.owl
created_by: peter
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26336950
comment: The myoclonic seizures are usually generalized. The duration or frequency of myoclonic jerks required to qualify as myoclonic status is not defined, but they should occur frequently and long enough to significantly impair functioning. A reasonable general definition might be that myoclonus must occur either (1) at least once every 10 seconds for longer than 10 minutes or (2) at least once a minute for longer than 30 minutes.
from pub med: true

Tonic status epilepticus
type: Class
subclass of: Status epilepticus with prominent motor symptoms
definition: Tonic status epilepticus is a type of status epilepticus characterized by focal or bilateral limb stiffening or elevation, which may be electrographically generalized or focal.
imported from: hp.owl
created_by: peter
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26336950
comment: This has most commonly been reported in children with neurocognitive impairment and severe epilepsy, such as Ohtahara syndrome or West syndrome and Lennox-Gastaut syndrome. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities.
from pub med: true

Non-convulsive status epilepticus without coma
type: Class
subclass of: Status epilepticus without prominent motor symptoms
definition: A type of status epilepticus without prominent motor symptoms in the absence of coma.
imported from: hp.owl
created_by: peter

Focal non-convulsive status epilepticus without coma
type: Class
subclass of: focal non convulsive status epilepticus
definition: Focal non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically focal. It is a prolonged focal non-motor seizure.
imported from: hp.owl
created_by: peter
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26336950
alternative_term: focal non-convulsive status epilepticus without impairment of consciousness
comment: Semiology may include autonomic, sensory, visual, olfactory, gustatory, emotional/psychic/experiential, or cognitive symptoms. Consciousness or awareness may be intact or impaired.
from pub med: true

Abnormal circulating creatine kinase concentration
type: Class
subclass of: Abnormality of circulating enzyme level
definition: Any deviation from the normal circulating creatine kinase concentration.
imported from: hp.owl
created_by: HPO:skoehler
database_cross_reference: UMLS:C4022449
alternative_term: Abnormal circulating CK concentration
alternative_term: Abnormal circulating CPK concentration
alternative_term: Abnormal circulation phospho-CK concentration
alternative_term: Abnormal levels of creatine kinase in blood

Early onset of sexual maturation
type: Class
subclass of: Puberty and gonadal disorders
definition: An early onset of puberty, in this case early does not refer to precocious.
imported from: mondo.owl
created_by: doelkens
creation_date: 2010-05-04T10:35:02Z
database_cross_reference: UMLS:C4022392
alternative_term: Early onset of sexual maturation
has_obo_namespace: human_phenotype
id: HP:0100000

Abnormality of movement
type: Class
subclass of: Abnormality of nervous system physiology
definition: An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.
imported from: hp.owl
created_by: doelkens
creation_date: 2010-05-28T11:48:50Z
has_alternative_id: HP:0001294
database_cross_reference: MSH:D009069
database_cross_reference: SNOMEDCT_US:60342002
database_cross_reference: UMLS:C0026650
alternative_term: Abnormality of movement
alternative_term: Movement disorder
alternative_term: Unusual movement
has_obo_namespace: human_phenotype
id: HP:0100022
comment: Movement disorders are characterized by the phenotypic abnormalities including abnormal involuntary movements, akathisia, akinesia, athetosis, ataxia, ballismus, bradykinesia, chorea, dyskinesia, dystonia, and myoclonus tics, tremor, spasms, and stereotypy.

Tics
type: Class
subclass of: rare paroxysmal movement disorder
definition: Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppresable and are usually associated with awareness of an urge to perform the movement.
imported from: hp.owl
created_by: doelkens
creation_date: 2010-06-10T12:10:29Z
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK2609/
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29791879
database_cross_reference: UMLS:C2169806
has definition: Tics are involuntary, sudden, rapid, repetitive, non-rhythmic, simple or complex movements or vocalizations. Simple motor tics involve a single muscle or group of muscles (including ocular muscles) and may be misdiagnosed as myoclonic seizures. Complex motor tics involve a cluster of simple actions or coordinated sequence of movements that may be purposeful or non-purposeful and may be misdiagnosed as focal impaired awareness seizures, particularly in individuals with learning disability and / or communication problems. Tics are common in childhood and have a tendency to wax and wane in frequency over time. An urge or compulsion to perform the tic, and an ability to suppress the tic (to some degree) are important features on history that support the events being tics.
alternative_term: Tic disorder
alternative_term: Tics
has_obo_namespace: human_phenotype
id: HP:0100033
comment: Tics can be invisible to the observer, such as abdominal tensing or toe crunching. Common motor and phonic tics are, respectively, eye blinking and throat clearing. Movements of other movement disorders (for example, chorea, dystonia, myoclonus) must be distinguished from tics. Other conditions, such as autism and stereotypic movement disorder, also include movements which may be confused with tics. Tics must also be distinguished from the compulsions of OCD and from seizure activity. Tics may increase as a result of stress, fatigue, boredom, or high-energy emotions, which can include negative emotions, such as anxiety, but positive emotions as well, such as excitement or anticipation. Relaxation may result in a tic increase (for instance, watching television or using a computer), while concentration on an absorbing activity often leads to a decrease in tics.
from ILAE: true
from NCBI book: true

Axiom
annotated source: Tics
annotated property: hasDefinition
annotated target: Tics are involuntary, sudden, rapid, repetitive, non-rhythmic, simple or complex movements or vocalizations. Simple motor tics involve a single muscle or group of muscles (including ocular muscles) and may be misdiagnosed as myoclonic seizures. Complex motor tics involve a cluster of simple actions or coordinated sequence of movements that may be purposeful or non-purposeful and may be misdiagnosed as focal impaired awareness seizures, particularly in individuals with learning disability and / or communication problems. Tics are common in childhood and have a tendency to wax and wane in frequency over time. An urge or compulsion to perform the tic, and an ability to suppress the tic (to some degree) are important features on history that support the events being tics.

Abnormal tendon morphology
type: Class
subclass of: Abnormality of skeletal morphology
definition: An abnormality of the structure or form of the tendons, also often called sinews.
imported from: hp.owl
created_by: doelkens
creation_date: 2010-07-20T01:20:19Z
database_cross_reference: UMLS:C4021026
alternative_term: Abnormal shape of tendon
alternative_term: Abnormality of the sinew
has_obo_namespace: human_phenotype
id: HP:0100261
comment: A tendon (or sinew) is a tough band of fibrous connective tissue that usually connects muscle to bone and is capable of withstanding tension. Tendons are similar to ligaments and fascia as they are all made of collagen except that ligaments join one bone to another bone, and fascia connect muscles to other muscles. Tendons and muscles work together and can only exert a pulling force.

Epidural hemorrhage
type: Class
subclass of: Intracranial hemorrhage
definition: Hemorrhage occurring between the dura mater and the skull.
imported from: hp.owl
created_by: doelkens
creation_date: 2010-08-10T03:05:35Z
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/7469854
database_cross_reference: MSH:D006407
database_cross_reference: SNOMEDCT_US:428268007
database_cross_reference: SNOMEDCT_US:82999001
database_cross_reference: UMLS:C0238154
alternative_term: Epidural haematoma
alternative_term: Epidural haemorrhage
alternative_term: Epidural hematoma
alternative_term: Extradural haematoma
alternative_term: Extradural hematoma
has_obo_namespace: human_phenotype
id: HP:0100310
comment: Intracranial bleeding occuring between the dura mater (the tough outer membrane of the central nervous system) and the skull. The dura mater also covers the spine, so epidural bleeds may also occur in the spinal column.
from pub med: true

Cognitive impairment
type: Class
subclass of: Abnormality of higher mental function
definition: Abnormality in the process of thought including the ability to process information.
imported from: hp.owl
created_by: doelkens
creation_date: 2010-12-20T06:50:32Z
has_alternative_id: HP:0002128
has_alternative_id: HP:0002129
has_alternative_id: HP:0002302
has_alternative_id: HP:0002337
has_alternative_id: HP:0002441
has_alternative_id: HP:0006972
has_alternative_id: HP:0006998
has_alternative_id: HP:0007211
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/25905906
database_cross_reference: MSH:D060825
database_cross_reference: SNOMEDCT_US:386806002
database_cross_reference: UMLS:C0338656
database_cross_reference: UMLS:C0683322
alternative_term: Abnormality of cognition
alternative_term: Cognitive abnormality
alternative_term: Cognitive defects
alternative_term: Cognitive deficits
alternative_term: Cognitive impairment
alternative_term: Intellectual impairment
alternative_term: Mental impairment
has_obo_namespace: human_phenotype
id: HP:0100543
from ESSO: true
from pub med: true

Amaurosis fugax
type: Class
subclass of: Abnormality of vision
definition: A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition.
imported from: hp.owl
created_by: doelkens
creation_date: 2010-12-27T12:42:59Z
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28488762
database_cross_reference: MSH:D020757
database_cross_reference: SNOMEDCT_US:88032003
database_cross_reference: UMLS:C0149793
alternative_term: Amaurosis
has_obo_namespace: human_phenotype
id: HP:0100576
in subset: hposlim core
from ESSO: true
from pub med: true

Abnormality of the cerebral vasculature
type: Class
subclass of: Abnormality of the vasculature
subclass of: Abnormality of brain morphology
imported from: hp.owl
created_by: doelkens
creation_date: 2010-12-30T11:39:15Z
database_cross_reference: UMLS:C4022001
alternative_term: Abnormality of the cerebral blood vessels
has_obo_namespace: human_phenotype
id: HP:0100659

Abnormality of salivation
type: Class
subclass of: Abnormal oral physiology
imported from: hp.owl
created_by: doelkens
creation_date: 2011-06-07T10:01:04Z
database_cross_reference: UMLS:C4021978
alternative_term: Abnormal spit
alternative_term: Abnormality of salivation
has_obo_namespace: human_phenotype
id: HP:0100755

Hyperperistalsis
type: Class
subclass of: Abnormal peristalsis
definition: Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine.
imported from: hp.owl
created_by: doelkens
creation_date: 2011-06-07T11:53:08Z
has_broad_synonym: Stomach churning
database_cross_reference: SNOMEDCT_US:271838002
database_cross_reference: SNOMEDCT_US:80306002
database_cross_reference: UMLS:C0232474
database_cross_reference: UMLS:C0857071
alternative_term: Increased abdominal peristals
has_obo_namespace: human_phenotype
has_related_synonym: Increased Abdominal Peristals
id: HP:0100770
from ESSO: true

Hypoperistalsis
type: Class
subclass of: Abnormal peristalsis
definition: Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract.
imported from: hp.owl
created_by: doelkens
creation_date: 2011-06-07T11:53:08Z
database_cross_reference: SNOMEDCT_US:77853002
database_cross_reference: UMLS:C0232475
database_cross_reference: UMLS:C4020700
alternative_term: decresed abdominal peristalsis
has_obo_namespace: human_phenotype
has_related_synonym: Decreased Abdominal Peristalsis
has_related_synonym: Intestinal hypoperistalsis
id: HP:0100771
from ESSO: true

Vitreous floaters
type: Class
subclass of: Abnormality of vision
subclass of: Abnormal vitreous humor morphology
definition: Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent.
imported from: hp.owl
created_by: doelkens
creation_date: 2011-06-09T05:58:09Z
database_cross_reference: SNOMEDCT_US:15013002
database_cross_reference: SNOMEDCT_US:162278001
database_cross_reference: SNOMEDCT_US:420999000
database_cross_reference: UMLS:C0016242
database_cross_reference: UMLS:C1720491
alternative_term: Eye floaters
alternative_term: Flitting flies
alternative_term: Mouches volantes
alternative_term: Myodeopsia
alternative_term: Myodesopsia
alternative_term: Spots in front of eyes
alternative_term: Vitreous condensations
alternative_term: Vitreous debris
alternative_term: Vitreous opacities
alternative_term: Vitreous veils
has_obo_namespace: human_phenotype
has_related_synonym: Spots
id: HP:0100832
comment: Vitreous floaters are described as vitreous condensations (or vitreous debris or vitreous opacities) as a finding upon ophthalmological examination. Floaters can take many forms from little dots, circles, lines, to clouds or cobwebs. The floaters are created by a shadow of the floating vitreal debris that is projected onto the retina, which is described as a veil.
from ESSO: true

Abnormal blood oxygen level
type: Class
subclass of: Abnormal blood gas level
definition: An abnormality of the partial pressure of oxygen in the arterial blood.
imported from: hp.owl
date: 2018-10-17T15:14:35Z
created_by: http://orcid.org/0000-0001-7941-2961
alternative_term: Abnormal blood O2 level
alternative_term: Abnormal blood oxygen levels
alternative_term: Abnromal O2 blood concentration

Reflex asystolic syncope
type: Class
subclass of: Syncope
definition: A loss of consciousness followed by stiffening and brief clonic movements affecting some or all limbs, often misinterpreted as an epileptic seizure.
imported from: hp.owl
date: 2018-11-20T13:57:33Z
created_by: http://orcid.org/0000-0001-7941-2961
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK2609/
has definition: Reflex anoxic seizures or reflex asystolic syncope occurs from early infancy onwards, either remitting pre-school age or evolving into vasovagal syncope. Alternative names include pallid breath holding and pallid syncope. In these events an unpleasant, typically sudden stimulus such as a bump, knock on the head, cut or abrasion leads to a profound vagal discharge with a dramatic drop in the heart rate and transient asystole. These events are not due to temper tantrums. The child may cry very briefly or let out a couple of grunts and then becomes exceedingly pale and loses consciousness. Decerebrate posturing with extensor stiffening may mimic a tonic seizure and be followed by flexor spasms and irregular tonic-clonic movements however the whole sequence of abnormal movements will just last a few seconds. Recovery of consciousness may be rapid but some children may sleep for hours after an event. The events appear very frightening for carers but have a good prognosis. When reflex anoxic seizures are very frequent, atropine or cardiac pacing may be considered. There is an uncommon situation in which an anoxic seizure may trigger a secondary prolonged tonic-clonic seizure; the anoxic-epileptic seizure. The two phases of the event can be distinguished by a careful history, as in most events individuals will have syncope without the epileptic component
alternative_term: Reflex anoxic seizure
alternative_term: Reflex anoxic seizures
from ILAE: true
from NCBI book: true

Axiom
annotated source: Reflex asystolic syncope
annotated property: hasDefinition
annotated target: Reflex anoxic seizures or reflex asystolic syncope occurs from early infancy onwards, either remitting pre-school age or evolving into vasovagal syncope. Alternative names include pallid breath holding and pallid syncope. In these events an unpleasant, typically sudden stimulus such as a bump, knock on the head, cut or abrasion leads to a profound vagal discharge with a dramatic drop in the heart rate and transient asystole. These events are not due to temper tantrums. The child may cry very briefly or let out a couple of grunts and then becomes exceedingly pale and loses consciousness. Decerebrate posturing with extensor stiffening may mimic a tonic seizure and be followed by flexor spasms and irregular tonic-clonic movements however the whole sequence of abnormal movements will just last a few seconds. Recovery of consciousness may be rapid but some children may sleep for hours after an event. The events appear very frightening for carers but have a good prognosis. When reflex anoxic seizures are very frequent, atropine or cardiac pacing may be considered. There is an uncommon situation in which an anoxic seizure may trigger a secondary prolonged tonic-clonic seizure; the anoxic-epileptic seizure. The two phases of the event can be distinguished by a careful history, as in most events individuals will have syncope without the epileptic component

data item
type: Class
subclass of: information content entity
editor preferred label: data item
example of usage: Data items include counts of things, analyte concentrations, and statistical summaries.
has curation status: IAO_0000125
definition: a data item is an information content entity that is intended to be a truthful statement about something (modulo, e.g., measurement precision or other systematic errors) and is constructed/acquired by a method which reliably tends to produce (approximately) truthful statements.
editor note: 2/2/2009 Alan and Bjoern discussing FACS run output data. This is a data item because it is about the cell population. Each element records an event and is typically further composed a set of measurment data items that record the fluorescent intensity stimulated by one of the lasers.
editor note: 2009-03-16: data item deliberatly ambiguous: we merged data set and datum to be one entity, not knowing how to define singular versus plural. So data item is more general than datum.
editor note: 2009-03-16: removed datum as alternative term as datum specifically refers to singular form, and is thus not an exact synonym.
editor note: 2014-03-31: See discussion at http://odontomachus.wordpress.com/2014/03/30/aboutness-objects-propositions/
editor note: JAR: datum -- well, this will be very tricky to define, but maybe some information-like stuff that might be put into a computer and that is meant, by someone, to denote and/or to be interpreted by some process... I would include lists, tables, sentences... I think I might defer to Barry, or to Brian Cantwell Smith JAR: A data item is an approximately justified approximately true approximate belief
definition editor: PERSON: Alan Ruttenberg
definition editor: PERSON: Chris Stoeckert
definition editor: PERSON: Jonathan Rees
alternative term: data
imported from: iao.owl
imported from: mfomd.owl
imported from: ogms.owl

information content entity
type: Class
subclass of: generically dependent continuant
editor preferred label: information content entity
example of usage: Examples of information content entites include journal articles, data, graphical layouts, and graphs.
has curation status: IAO_0000122
definition: A generically dependent continuant that is about some thing.
definition: An information content entity is an entity that is generically dependent on some artifact and stands in relation of aboutness to some entity
editor note: 2014-03-10: The use of "thing" is intended to be general enough to include universals and configurations (see https://groups.google.com/d/msg/information-ontology/GBxvYZCk1oc/-L6B5fSBBTQJ).
editor note: information_content_entity 'is_encoded_in' some digital_entity in obi before split (040907). information_content_entity 'is_encoded_in' some physical_document in obi before split (040907). Previous. An information content entity is a non-realizable information entity that 'is encoded in' some digital or physical entity.
definition editor: PERSON: Chris Stoeckert
definition source: OBI_0000142
imported from: iao.owl
imported from: mfomd.owl

measurement datum
type: Class
subclass of: data item
editor preferred label: measurement datum
example of usage: Examples of measurement data are the recoding of the weight of a mouse as {40,mass,"grams"}, the recording of an observation of the behavior of the mouse {,process,"agitated"}, the recording of the expression level of a gene as measured through the process of microarray experiment {3.4,luminosity,}.
has curation status: IAO_0000125
definition: A measurement datum is an information content entity that is a recording of the output of a measurement such as produced by a device.
editor note: 2/2/2009 is_specified_output of some assay?
definition editor: person:Chris Stoeckert
definition source: OBI_0000305
definition source: group:OBI
imported from: iao.owl

medicinal plant disposition
type: Class
subclass of: disposition
type: NamedIndividual
tree view: snap Disposition
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/25856437
imported from: idomal.owl
definition: The disposition of a plant or its parts to be used to cure disease or relieve pain.
creation_date: 2012-02-24T12:05:43Z
has_obo_namespace: idomal_namespace
id: IDOMAL:6000062
from pub med: true
notation: IDOMAL:6000062
created_by: louis

infection
type: Class
subclass of: material entity
subclass of: Restriction
  on property: isRiskFactorFor
  some values from: epilepsy
definition: A part of an extended organism that itself has as part a population of one or more infectious agents and that (1) exists as a result of processes initiated by members of the infectious agent population and is (2) clinically abnormal in virtue of the presence of this infectious agent population, or (3) has a disposition to bring clinical abnormality to immunocompetent organisms of the same Species as the host (the organism corresponding to the extended organism) through transmission of a member or offspring of a member of the infectious agent population.
definition editor: Albert Goldfain
definition editor: Alexander Diehl
definition editor: Lindsay Cowell
imported from: ido.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26423537
comment: The organism corresponding to the extended organism is host to the infectious agents. By this definition, parts of the host can be considered part of the infection.
from pub med: true

emotion process
type: Class
subclass of: affective process
definition: An emotion process is a complex mental process that is a synchronized aggregate of constituent mental processes including an appraisal process as part, and which gives rise to an action tendency.
imported from: mfoem.owl
synonym: occurrent emotion
synonym: short-term emotion
from ESSO: true

anger
type: Class
subclass of: emotion process
definition: Anger is a negative emotion, characterised by feelings of unpleasantness and high arousal, in the form of antagonistic feelings and action tendencies. [Source: OCEAS]
imported from: mfoem.owl
synonym: colère
synonym: ira
synonym: wut
tag display synonym: angry
from ESSO: true

rage
type: Class
subclass of: anger
imported from: mfoem.owl
tag display synonym: enraged
has definition: violent and uncontrolled anger
from article: true
from ESSO: true

Axiom
annotated source: rage
annotated property: hasDefinition
annotated target: violent and uncontrolled anger

fear
type: Class
subclass of: emotion process
definition: An activated, aversive emotion that motivates attempts to cope with events that provide threats to the survival or well-being of organisms. Characterised by feelings of threat and impending doom, and by an urge to get out of the situation. [Source: OCEAS]
imported from: mfoem.owl
synonym: angst
synonym: miedo
synonym: peur
tag display synonym: afraid
from ESSO: true

terror
type: Class
subclass of: fear
imported from: mfoem.owl
tag display synonym: terrified
has definition: A state of intense or overwhelming fear
from article: true
from ESSO: true

Axiom
annotated source: terror
annotated property: hasDefinition
annotated target: A state of intense or overwhelming fear

joy
type: Class
subclass of: happiness
definition: A pleasant, positive emotion which arises in safe and familiar circumstances, when people have made progress towards important personal goals, especially when the progress is better than expected. [Source: OCEAS]
imported from: mfoem.owl
synonym: freude
synonym: gozo
synonym: joie
tag display synonym: joyful
has db x ref: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4756129/
from ESSO: true
from pub med: true

happiness
type: Class
subclass of: emotion process
definition: A positive emotion which is experienced in reaction to a positive experience or event. [Source: OCEAS]
imported from: mfoem.owl
synonym: bonheur
synonym: felicidad
synonym: glück
tag display synonym: happy

sadness
type: Class
subclass of: emotion process
definition: A negative emotion felt when an event is appraised as unpleasant, obstructive to one's goals and concerns, and one feels unable to cope with it or modify it. [Source: OCEAS]
imported from: mfoem.owl
synonym: trauer
synonym: tristesse
synonym: tristeza
tag display synonym: sad
from article: true
from ESSO: true

affective process
type: Class
subclass of: mental process
definition: An affective process is any process that has positive or negative valence.
imported from: mfoem.owl

pathological mental process
type: Class
subclass of: pathological bodily process
definition source: http://www.jbiomedsem.com/content/1/1/10
imported from: mfomd.owl
has definition: A mental illness can be defined as a health condition that changes a person's thinking, feelings, or behavior (or all three) and that causes the person distress and difficulty in functioning.

Axiom
annotated source: pathological mental process
annotated property: hasDefinition
annotated target: A mental illness can be defined as a health condition that changes a person's thinking, feelings, or behavior (or all three) and that causes the person distress and difficulty in functioning.

delusion
type: Class
subclass of: pathological mental process
definition: Erroneous beliefs that usually involve a misinterpretation of perceptions or experiences. (their content may include a variety of themes (e.g., persecutory, referential, somatic, religious, or grandiose). DSM-IV-TR (american Psychiatric Association)
imported from: mfomd.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30473971
from pub med: true

flashback
type: Class
subclass of: pathological mental process
definition: The recurrence of a memory, feeling, or perceptual experience from the past. DSM-IV-TR (american Psychiatric Association)
imported from: mfomd.owl
from article: true
from ESSO: true

dissociation
type: Class
subclass of: pathological mental process
definition: A disruption in the usually integrated functions of consciousness, memory, identity, or perception of the environment. The disturbance may be sudden or gradual, transient or chronic. DSM-IV-TR (american Psychiatric Association)
imported from: mfomd.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/9579937
from pub med: true

stupor
type: Class
subclass of: pathological mental process
definition: A state of unresponsiveness with immobility and mutism. DSM-IV-TR (american Psychiatric Association)
imported from: mfomd.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/16650147
from ESSO: true
from pub med: true

panic attack
type: Class
subclass of: Behavioral Disorder
definition: Period of intense fear or apprehension that are of sudden onset and of variable duration from minutes to hours. http://en.wikipedia.org/wiki/Panic_attack
imported from: mfomd.owl
has definition: Panic or anxiety attacks are brief episodes, each lasting several minutes, which can recur. A sudden feeling of apprehension, fear or terror is accompanied by symptoms including breathlessness (with hyperventilation), choking sensation, palpitations, chest pain, paraesthesia (typically perioral and in the hands), dizziness, sweating, trembling and feeling faint or loss of consciousness. It may not be easy to identify a precipitant. Fear may be a manifestation of focal seizures therefore ictal EEG may be required to make a correct diagnosis.
has_related_synonym: Panic
from ESSO: true
from ILAE: true

Axiom
annotated source: panic attack
annotated property: hasDefinition
annotated target: Panic or anxiety attacks are brief episodes, each lasting several minutes, which can recur. A sudden feeling of apprehension, fear or terror is accompanied by symptoms including breathlessness (with hyperventilation), choking sensation, palpitations, chest pain, paraesthesia (typically perioral and in the hands), dizziness, sweating, trembling and feeling faint or loss of consciousness. It may not be easy to identify a precipitant. Fear may be a manifestation of focal seizures therefore ictal EEG may be required to make a correct diagnosis.

psychosis
type: Class
subclass of: pathological mental process
definition: Symptom or feature of mental illness typically characterized by radical changes in personality, impaired functioning, and a distorted or nonexistent sense of objective reality.
imported from: mfomd.owl
from article: true
from ESSO: true

anhedonia
type: Class
subclass of: pathological mental process
definition: Is defined as the inability to experience pleasure from activities usually found enjoyable, e.g. exercise, hobbies, music, sexual activities or social interactions. http://en.wikipedia.org/wiki/Anhedonia
imported from: mfomd.owl
from article: true

akinesia
type: Class
subclass of: pathological mental process
definition: Absence, poverty, or loss of control of voluntary muscle movements. http://medical-dictionary.thefreedictionary.com/akinesia
imported from: mfomd.owl
from ESSO: true

dysphoria
type: Class
subclass of: pathological mental process
definition: Feeling of emotional and mental discomfort as a symptom of discontentment, restlessness, dissatisfaction, malaise, depression, anxiety or indifference. http://en.wikipedia.org/wiki/Dysphoria
imported from: mfomd.owl
alternative_term: Displeasure
from article: true
from ESSO: true

thought disorder (TD)
type: Class
subclass of: pathological mental process
definition: Refers to disorganized thinking as evidenced by disorganized speech.
alternative term: formal thought disorder (FTD)
imported from: mfomd.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/9291731
comment: Specific thought disorders include derailment, poverty of speech, tangentiality, illogicality, perseveration, neologism, and thought blocking. http://en.wikipedia.org/wiki/Thought_disorder
from pub med: true

cognitive process
type: Class
subclass of: mental process
definition: A mental process that creates, modifies or has as participant some cognitive representation.
imported from: mf.owl
imported from: mfomd.owl

thinking
type: Class
subclass of: mental process
definition: a mental process that involves the manipulation of mental language and/or mental images
alternative term: act of thinking
imported from: mf.owl
from article: true
from ESSO: true

perception
type: Class
subclass of: mental process
definition: a mental process which is a) produced by a causal process (for example involving light rays or air vibrations) involving a part of the environment of the organism, and b) is experienced by the organism as being so caused, and c) in which the relevant part of the environment is thereby represented to the organism
imported from: mf.owl
from ESSO: true

mental process
type: Class
subclass of: bodily process
definition: A mental process is a bodily process that is of a type such that it can of itself be conscious. Examples include thinking, feeling pain, remembering and emotion as occurrent experiences.
imported from: mf.owl
imported from: mfomd.owl
comment: A bodily process which brings into being, sustains or modifies a cognitive representation or a beahvior inducing state.

mental disposition
type: Class
subclass of: disposition
definition: A mental disposition is a bodily disposition that is realized in a mental process.
imported from: mf.owl
imported from: mfomd.owl

daydreaming
type: Class
subclass of: Behavioral Disorder
definition: Short-term detachment from one's immediate surroundings, during which a person's contact with reality is blurred and partially substituted by a visionary fantasy, especially one of happy, pleasant thoughts, hopes or ambitions, imagined as coming to pass, and experienced while awake.
alternative term: act of daydreaming
definition source: http://en.wikipedia.org/wiki/Daydream
imported from: mf.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29791879
has definition: Daydreaming /inattention is common in childhood and events are frequently misdiagnosed as absence seizures. Daydreams are often situational (seen more frequently at times when the child is tired or relaxed or bored) and are longer than absences. Daydreams manifest as the child staring forward blankly, whilst motionless and not responding to those around them. There is usually no loss of body tone in a daydream and eyelid flickering does not occur. A daydream may be aborted by measures to attract the child's attention from the daydream, whereas a child cannot be distracted out of an absence seizure. Broadly stereotyped motor behaviors may accompany the daydream, particularly in children with learning disability and autistic features. Daydreams are often more pronounced in children with attention and learning difficulties.
alternative_term: daydreaming/inattention
from ILAE: true
from pub med: true

Axiom
annotated source: daydreaming
annotated property: hasDefinition
annotated target: Daydreaming /inattention is common in childhood and events are frequently misdiagnosed as absence seizures. Daydreams are often situational (seen more frequently at times when the child is tired or relaxed or bored) and are longer than absences. Daydreams manifest as the child staring forward blankly, whilst motionless and not responding to those around them. There is usually no loss of body tone in a daydream and eyelid flickering does not occur. A daydream may be aborted by measures to attract the child's attention from the daydream, whereas a child cannot be distracted out of an absence seizure. Broadly stereotyped motor behaviors may accompany the daydream, particularly in children with learning disability and autistic features. Daydreams are often more pronounced in children with attention and learning difficulties.

ultrasound method
type: Class
subclass of: imaging technique
subclass of: Restriction
  on property: isDiagnosisFor
  some values from: epilepsy
definition: A technique which uses the visualization of deep structures of the body by recording the reflections of pulses of ultrasonic waves directed into the tissues.
imported from: mmo.owl
has_obo_namespace: measurement_method_ontology
id: MMO:0000024
from article: true

urine analysis
type: Class
subclass of: clinical measurement
definition: Any method to determine the nature, properties, or composition of urine, the fluid waste product excreted by the kidneys, including measurement of the volume of urine or of the quantity or quality of component parts of urine.
imported from: mmo.owl
created_by: mshimoyama
creation_date: 2010-09-01T09:58:30Z
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26167207
has_obo_namespace: measurement_method_ontology
has_related_synonym: urinalysis
id: MMO:0000147
from pub med: true

urine electrolyte analysis
type: Class
subclass of: urine analysis
definition: A method which assesses the amount, proportions or properties of one or more electrolytes, any of various ions required by cells to regulate the electric charge and flow of water molecules across the cell membrane, in urine, the fluid waste product excreted by the kidneys.
imported from: mmo.owl
created_by: JSmith
creation_date: 2013-11-13T11:01:51Z
has_obo_namespace: measurement_method_ontology
id: MMO:0000433

urine sodium analysis
type: Class
subclass of: urine electrolyte analysis
definition: A method which assesses the amount, proportions or properties of sodium in urine, the fluid waste product excreted by the kidneys. Sodium, the chemical element with atomic number 11 that in its ionic form has lost one electron, forming a cation with a charge of +1, is the chief cation of extracellular body fluids.
imported from: mmo.owl
created_by: JSmith
creation_date: 2013-11-13T11:19:45Z
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/31911412
alternative_term: urine sodium ion analysis
has_obo_namespace: measurement_method_ontology
has_related_synonym: urine Na+ analysis
id: MMO:0000434
from pub med: true

urine potassium analysis
type: Class
subclass of: urine electrolyte analysis
definition: A method which assesses the amount, proportions or properties of potassium in urine, the fluid waste product excreted by the kidneys. Potassium, the chemical element with atomic number 19 that in its ionic form has lost one electron, forming a cation with a charge of +1, is the chief cation of intracellular fluid.
imported from: mmo.owl
created_by: JSmith
creation_date: 2013-11-13T11:19:49Z
alternative_term: urine potassium ion analysis
has_obo_namespace: measurement_method_ontology
has_related_synonym: urine K+ analysis
id: MMO:0000435

GLUT1 deficiency syndrome
type: Class
subclass of: metabolic etiology
imported from: mondo.owl
database_cross_reference: DC:0000690
database_cross_reference: OMIMPS:606777
has definition: The predominant seizure type in this metabolic disorder is absence seizures; myoclonic seizures and focal seizures are also seen. Around 10% of patients with early onset absence seizures and 5% of patients with epilepsy with myoclonic-atonic seizures have GLUT1 deficiency. A strong clue is the presence of paroxysmal exercise-induced dyskinesia in family members (or in the affected individual), which may be worse in the morning or after a period of fasting and relieved by carbohydrate. The ketogenic diet is the treatment of choice for GLUT1 deficiency and may result in seizure control and potentially improve cognitive outcome. Diagnosis may be suspected if a reduced CSF-blood glucose ratio (< 0.46) is found. The diagnosis can be confirmed by looking for reduced glucose transport across the erythrocyte membrane (which carries the same glucose transporter), and by mutation analysis of the solute carrier family 2, facilitated glucose transporter member 1 (SLC2A1) gene.
id: MONDO:0000188
comment: Editor note: todo http://identifiers.org/hgnc/11005
from ILAE: true

Axiom
annotated source: GLUT1 deficiency syndrome
annotated property: hasDefinition
annotated target: The predominant seizure type in this metabolic disorder is absence seizures; myoclonic seizures and focal seizures are also seen. Around 10% of patients with early onset absence seizures and 5% of patients with epilepsy with myoclonic-atonic seizures have GLUT1 deficiency. A strong clue is the presence of paroxysmal exercise-induced dyskinesia in family members (or in the affected individual), which may be worse in the morning or after a period of fasting and relieved by carbohydrate. The ketogenic diet is the treatment of choice for GLUT1 deficiency and may result in seizure control and potentially improve cognitive outcome. Diagnosis may be suspected if a reduced CSF-blood glucose ratio (< 0.46) is found. The diagnosis can be confirmed by looking for reduced glucose transport across the erythrocyte membrane (which carries the same glucose transporter), and by mutation analysis of the solute carrier family 2, facilitated glucose transporter member 1 (SLC2A1) gene.

cerebral creatine deficiency syndrome
type: Class
subclass of: metabolic etiology
definition: Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency.
imported from: mondo.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/23534590
database_cross_reference: DOID:0050798
database_cross_reference: ICD10:E72.8
database_cross_reference: OMIMPS:300352
database_cross_reference: Orphanet:79172
database_cross_reference: UMLS:CN227588
has definition: Disorders of creatine metabolism comprise three different defects: impaired creatine transport into the brain in the X-linked creatine transporter defect and impaired creatine synthesis in GAMT (guanidinoacetate methyltransferase) and AGAT (arginineglycine amidinotransferase) deficiencies. Only GAMT deficiency is regularly associated with epilepsy, which is often refractory to conventional treatment. Creatine supplementation alone frequently leads to improvement. Several seizure types may occur. Infants can present with West syndrome. Atypical absences, atonic and generalized tonic-clonic seizures are common later in childhood.
alternative_term: CCDS
alternative_term: CDS
alternative_term: cerebral creatine deficiency syndrome
alternative_term: creatine deficiency syndrome
id: MONDO:0000456
in subset: ordo group of disorders
from ILAE: true
from pub med: true

Axiom
annotated source: cerebral creatine deficiency syndrome
annotated property: hasDefinition
annotated target: Disorders of creatine metabolism comprise three different defects: impaired creatine transport into the brain in the X-linked creatine transporter defect and impaired creatine synthesis in GAMT (guanidinoacetate methyltransferase) and AGAT (arginineglycine amidinotransferase) deficiencies. Only GAMT deficiency is regularly associated with epilepsy, which is often refractory to conventional treatment. Creatine supplementation alone frequently leads to improvement. Several seizure types may occur. Infants can present with West syndrome. Atypical absences, atonic and generalized tonic-clonic seizures are common later in childhood.

congenital abnormality
type: Class
subclass of: disease
definition: Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period.
imported from: mondo.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/25777785
database_cross_reference: DOID:0080015
database_cross_reference: EFO:0003915
database_cross_reference: ICD10:Q00.Q99
database_cross_reference: ICD9:759.89
database_cross_reference: ICD9:759.9
database_cross_reference: MESH:D000013
database_cross_reference: NCIT:C2849
database_cross_reference: SCTID:276654001
database_cross_reference: UMLS:CN232116
alternative_term: SCONG
alternative_term: birth defect
alternative_term: congenital Abnormality
alternative_term: congenital abnormality
alternative_term: congenital anatomic Abnormality
alternative_term: congenital anatomical Abnormality
alternative_term: congenital anomalies of fetus
alternative_term: congenital anomaly
alternative_term: congenital anomaly or birth defect
alternative_term: congenital defect
alternative_term: congenital defect/deformity
alternative_term: congenital deformity
alternative_term: congenital malformation
alternative_term: congenital malformations
alternative_term: defect/deformity, Congenital
alternative_term: defect/deformity, congenital
alternative_term: deformity/defect, Congenital
alternative_term: physical disorder
has_related_synonym: CM - congenital malformation
has_related_synonym: fetal developmental abnormality
has_related_synonym: fetal malformation
has_related_synonym: foetal malformation
id: MONDO:0000839
from pub med: true

psychiatric disorder
type: Class
subclass of: disease of mental health
definition: A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia.
imported from: mondo.owl
database_cross_reference: DOID:150
database_cross_reference: ICD10:F99
database_cross_reference: ICD10:F99-F99
database_cross_reference: MESH:D001523
database_cross_reference: MFOMD:0000004
database_cross_reference: NCIT:C2893
alternative_term: Psychiatric disease
alternative_term: Psychiatric disorder
alternative_term: disease of mental health
alternative_term: mental disorder
alternative_term: mental dysfunction
alternative_term: mental illness
id: MONDO:0002025

venous hemangioma
type: Class
subclass of: cardiovascular system disease
definition: A rare slow growing benign tumor of aberrant and ectatic venous connections.
imported from: mondo.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/11076003
database_cross_reference: DOID:467
database_cross_reference: ICD9:228.09
database_cross_reference: ICDO:9122/0
database_cross_reference: NCIT:C4296
database_cross_reference: SCTID:403968005
database_cross_reference: UMLS:C0334532
alternative_term: Venous angioma
alternative_term: Venous malformation
id: MONDO:0003083
from pub med: true

cavernous hemangioma
type: Class
subclass of: cardiovascular system disease
definition: A hemangioma characterized by the presence of cavernous vascular spaces.
imported from: mondo.owl
has_alternative_id: MONDO:0006124
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/24134485
database_cross_reference: DOID:483
database_cross_reference: EFO:1000151
database_cross_reference: HP:0001048
database_cross_reference: ICD10:D18.0
database_cross_reference: ICDO:9121/0
database_cross_reference: MESH:D006392
database_cross_reference: NCIT:C3086
database_cross_reference: SCTID:416824008
database_cross_reference: UMLS:C0018920
alternative_term: cavernoma
alternative_term: cavernous angioma
alternative_term: cavernous haemangioma
alternative_term: cavernous hemangioma
alternative_term: cavernous hemangioma (morphologic abnormality)
id: MONDO:0003155
from pub med: true

neoplasm (disease)
type: Class
subclass of: neoplastic disease or syndrome
definition: A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias.
imported from: mondo.owl
has_broad_synonym: cell process disease
database_cross_reference: COHD:438112
database_cross_reference: DOID:14566
database_cross_reference: EFO:0000616
database_cross_reference: HP:0002664
database_cross_reference: ICD10:C00.D48
database_cross_reference: ICD9:140-239.99
database_cross_reference: ICD9:239.8
database_cross_reference: ICD9:239.9
database_cross_reference: MESH:D009369
database_cross_reference: NCIT:C3262
database_cross_reference: ONCOTREE:OTHER
database_cross_reference: SCTID:55342001
database_cross_reference: UMLS:CN236628
has definition: 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.
alternative_term: disease of cellular proliferation
alternative_term: neoplasia
alternative_term: neoplasm
alternative_term: neoplastic disease
alternative_term: neoplastic growth
alternative_term: tumor
alternative_term: tumor disease
has_narrow_synonym: other neoplasm
id: MONDO:0005070
from ILAE: true

Axiom
annotated source: neoplasm (disease)
annotated property: hasDefinition
annotated target: 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.

mental disorder
type: Class
subclass of: psychiatric disorder
definition: A disease that has its basis in the disruption of mental process.
imported from: mondo.owl
database_cross_reference: EFO:0000677
database_cross_reference: ICD10:F00.F99
database_cross_reference: ICD9:290-299.99
database_cross_reference: ICD9:298.8
database_cross_reference: ICD9:V11.9
database_cross_reference: NIFSTD:birnlex_12669
database_cross_reference: SCTID:74732009
database_cross_reference: UMLS:CN240636
alternative_term: disorder of mental process
alternative_term: mental or behavioural disorder
alternative_term: mental process disease
has_related_synonym: disorder of mental process
id: MONDO:0005084

cytomegalovirus infection
type: Class
subclass of: infectious etiology
definition: A herpesvirus infection caused by Cytomegalovirus. Healthy individuals generally do not produce symptoms. However, the infection may be life-threatening in affected immunocompromised patients. The virus may cause retinitis, esophagitis, gastritis, and colitis. Morphologically, it is characterized by the presence of intranuclear inclusion bodies.
imported from: mondo.owl
database_cross_reference: COHD:440032
database_cross_reference: EFO:0001062
database_cross_reference: ICD9:078.5
database_cross_reference: MESH:D003586
database_cross_reference: NCIT:C53649
database_cross_reference: SCTID:28944009
database_cross_reference: UMLS:C0010823
alternative_term: CMV infection
alternative_term: Cytomegaloviral infection
alternative_term: HCMV infection
id: MONDO:0005132

encephalomyelitis
type: Class
subclass of: central nervous system disease
definition: Inflammation of the brain and the spinal cord.
imported from: mondo.owl
database_cross_reference: DOID:640
database_cross_reference: EFO:0001423
database_cross_reference: ICD9:323.9
database_cross_reference: MESH:D004679
database_cross_reference: NCIT:C34580
database_cross_reference: SCTID:62950007
database_cross_reference: UMLS:C0014070
alternative_term: central nervous system inflammation
alternative_term: encephalitis &/or myelitis
alternative_term: encephalitis and/or myelitis
alternative_term: inflammation of central nervous system
id: MONDO:0005156
from ESSO: true

developmental disability
type: Class
subclass of: developmental disorder of mental health
definition: Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)
imported from: mondo.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/20161538
database_cross_reference: EFO:0003852
database_cross_reference: MESH:D002658
id: MONDO:0005287
from pub med: true

partial epilepsy
type: Class
subclass of: epilepsy
definition: A seizure caused by a localized disorder.
imported from: mondo.owl
database_cross_reference: DOID:2234
database_cross_reference: EFO:0004263
database_cross_reference: ICD9:345.50
database_cross_reference: MESH:D004828
database_cross_reference: NCIT:C122812
database_cross_reference: SCTID:230381009
database_cross_reference: UMLS:C0014547
alternative_term: localisation-related epilepsy
alternative_term: partial epilepsy
has_related_synonym: focal epilepsy
id: MONDO:0005384

alcohol withdrawal
type: Class
subclass of: substance withdrawal syndrome
imported from: mondo.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/31578307
database_cross_reference: EFO:0004777
database_cross_reference: ICD9:291.81
database_cross_reference: SCTID:191480000
database_cross_reference: UMLS:C0236663
has definition: Alcohol withdrawal syndrome (AWS) is the name for the symptoms that occur when a heavy drinker suddenly stops or significantly reduces their alcohol intake.
alternative_term: alcohol withdrawal syndrome
id: MONDO:0005433
from pub med: true

Axiom
annotated source: alcohol withdrawal
annotated property: hasDefinition
annotated target: Alcohol withdrawal syndrome (AWS) is the name for the symptoms that occur when a heavy drinker suddenly stops or significantly reduces their alcohol intake.

substance withdrawal syndrome
type: Class
subclass of: substance-related disorder
definition: A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of an addictive substance, e.g. opioids, barbiturates and alcohol; amphetamines or similarly acting sympathomimetics; cocaine; nicotine; sedatives, hypnotics, or anxiolytics. Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions.
imported from: mondo.owl
database_cross_reference: DOID:0060001
database_cross_reference: EFO:0005800
database_cross_reference: ICD9:292.0
database_cross_reference: MESH:D013375
database_cross_reference: NCIT:C35046
database_cross_reference: SCTID:363101005
database_cross_reference: UMLS:C0152128
alternative_term: drug withdrawal
alternative_term: drug withdrawal syndrome
alternative_term: substance withdrawal
alternative_term: substance withdrawal disorder
alternative_term: substance withdrawal syndrome
alternative_term: withdrawal syndrome
has_related_synonym: withdrawal disorder
id: MONDO:0005567

cerebral toxoplasmosis
type: Class
subclass of: infectious etiology
definition: Infections of the brain caused by the protozoan toxoplasma gondii that primarily arise in individuals with immunologic deficiency syndromes (see also aids-related opportunistic infections). The infection may involve the brain diffusely or form discrete abscesses. Clinical manifestations include seizures, altered mentation, headache, focal neurologic deficits, and intracranial hypertension. (From Joynt, Clinical Neurology, 1998, Ch27, pp41-3)
imported from: mondo.owl
database_cross_reference: EFO:0007200
database_cross_reference: ICD9:130.0
database_cross_reference: MESH:D016781
database_cross_reference: SCTID:192701001
has definition: Toxoplasmosis, found worldwide, is caused by Toxoplasma gondii. Immunocompetent persons with primary infection are usually asymptomatic, but latent infection can occur. In immunosuppressed patients, especially those with HIV, reactivation can cause disease (usually when CD4 lymphocyte count falls below 100 cells/mm3). Most patients with cerebral toxoplasmosis have multiple, ring-enhancing, brain lesions often associated with edema and with predilection for involvement of the basal ganglia.
alternative_term: Toxoplasma encephalitis
has_related_synonym: encephalitis due to acquired toxoplasmosis
has_related_synonym: meningoencephalitis due to toxoplasmosis
id: MONDO:0005697
from ILAE: true

Axiom
annotated source: cerebral toxoplasmosis
annotated property: hasDefinition
annotated target: Toxoplasmosis, found worldwide, is caused by Toxoplasma gondii. Immunocompetent persons with primary infection are usually asymptomatic, but latent infection can occur. In immunosuppressed patients, especially those with HIV, reactivation can cause disease (usually when CD4 lymphocyte count falls below 100 cells/mm3). Most patients with cerebral toxoplasmosis have multiple, ring-enhancing, brain lesions often associated with edema and with predilection for involvement of the basal ganglia.

rolandic epilepsy
type: Class
subclass of: epilepsy
definition: Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome.
imported from: mondo.owl
database_cross_reference: DOID:3329
database_cross_reference: GARD:0010287
database_cross_reference: ICD10:G40.0
database_cross_reference: ICD9:345.80
database_cross_reference: NCIT:C116538
database_cross_reference: OMIM:117100
database_cross_reference: Orphanet:1945
database_cross_reference: SCTID:44145005
database_cross_reference: UMLS:C0376532
database_cross_reference: UMLS:C2363129
database_cross_reference: UMLS:CN200685
alternative_term: BCECTS
alternative_term: BECRS
alternative_term: BECTS
alternative_term: BRE
alternative_term: benign Rolandic epilepsy
alternative_term: benign childhood epilepsy with centrotemporal spike
alternative_term: benign childhood epilepsy with centrotemporal spikes
alternative_term: benign epilepsy of childhood with centrotemporal spikes
alternative_term: benign epilepsy with centrotemporal spikes
alternative_term: benign familial epilepsy of childhood with rolandic spikes
alternative_term: benign rolandic epilepsy
alternative_term: centrotemporal epilepsy
alternative_term: rolandic epilepsy
alternative_term: sylvan seizures
has_related_synonym: CENTRALOPATHIC epilepsy
has_related_synonym: benign epilepsy of childhood with centrotemporal spikes (BECCT)
has_related_synonym: benign epilepsy with centro-temporal spikes (BECTS)
has_related_synonym: benign rolandic epilepsy (BRE)
has_related_synonym: benign rolandic epilepsy of childhood (BREC)
has_related_synonym: temporal-central focal epilepsy
id: MONDO:0007295
in subset: gard rare
in subset: ordo disease
from ESSO: true

seizures, benign familial neonatal, 1
type: Class
subclass of: benign neonatal seizures
definition: Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ2 gene.
imported from: mondo.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30782577
database_cross_reference: MESH:C567743
database_cross_reference: OMIM:121200
database_cross_reference: UMLS:C3149074
has definition: Benign familial neonatal seizures (BFNS) is a condition characterized by recurrent seizures in newborn babies. The seizures begin around day 3 of life and usually go away within 1 to 4 months. The seizures can involve only one side of the brain (focal seizures) or both sides (generalized seizures). Many infants with this condition have generalized tonic-clonic seizures (also known as grand mal seizures). This type of seizure involves both sides of the brain and affects the entire body, causing muscle rigidity, convulsions, and loss of consciousness.
alternative_term: KCNQ2 benign neonatal seizures
alternative_term: benign familial neonatal seizure
alternative_term: benign neonatal seizures caused by mutation in KCNQ2
alternative_term: seizures, benign familial neonatal, 1
alternative_term: seizures, benign familial neonatal, type 1
has_related_synonym: BFNS1
has_related_synonym: epilepsy, benign neonatal, 1, and/or myokymia
has_related_synonym: seizures, benign familial neonatal, 1, and/or myokymia
has_related_synonym: seizures, benign familial neonatal, 1; BFNS1
id: MONDO:0007365
from pub med: true

Axiom
annotated source: seizures, benign familial neonatal, 1
annotated property: hasDefinition
annotated target: Benign familial neonatal seizures (BFNS) is a condition characterized by recurrent seizures in newborn babies. The seizures begin around day 3 of life and usually go away within 1 to 4 months. The seizures can involve only one side of the brain (focal seizures) or both sides (generalized seizures). Many infants with this condition have generalized tonic-clonic seizures (also known as grand mal seizures). This type of seizure involves both sides of the brain and affects the entire body, causing muscle rigidity, convulsions, and loss of consciousness.

electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon
type: Class
subclass of: genetic disease
imported from: mondo.owl
database_cross_reference: OMIM:130200
alternative_term: electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon
alternative_term: epileptic encephalopathy with continous spikes and wave during sleep
id: MONDO:0007530

benign paroxysmal tonic upgaze of childhood with ataxia
type: Class
subclass of: rare paroxysmal movement disorder
definition: Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset.
imported from: mondo.owl
database_cross_reference: GARD:0004176
database_cross_reference: ICD10:G96.8
database_cross_reference: MESH:C566817
database_cross_reference: OMIM:168885
database_cross_reference: Orphanet:1179
database_cross_reference: SCTID:763127004
database_cross_reference: UMLS:C1868576
has definition: Benign paroxysmal tonic upgaze presents in early infancy and is characterised by prolonged or intermittent upgaze which may last hours or days. Children may be ataxic during episodes and attacks occur more frequently during intercurrent illnesses.
alternative_term: Ouvrier-Billson syndrome
alternative_term: benign paroxysmal tonic upgaze
has_related_synonym: Ouvrier Billson syndrome
has_related_synonym: paroxysmal tonic upgaze, benign childhood, with ataxia
id: MONDO:0008206
in subset: ordo disease
from ILAE: true

Axiom
annotated source: benign paroxysmal tonic upgaze of childhood with ataxia
annotated property: hasDefinition
annotated target: Benign paroxysmal tonic upgaze presents in early infancy and is characterised by prolonged or intermittent upgaze which may last hours or days. Children may be ataxic during episodes and attacks occur more frequently during intercurrent illnesses.

celiac disease-epilepsy-cerebral calcification syndrome
type: Class
subclass of: antibody mediated epilepsy
definition: Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications.
imported from: mondo.owl
database_cross_reference: GARD:0002166
database_cross_reference: MESH:C535496
database_cross_reference: OMIM:226810
database_cross_reference: Orphanet:1459
database_cross_reference: UMLS:C1856930
has definition: An association between epilepsy and celiac disease has been debated however has not been convincingly established in more careful studies. Celiac disease, epilepsy and occipital calcifications is a rare condition with the following characteristics: Mean age at onset is 6 years Bilateral cortical/subcortical parieto-occipital calcifications without brain atrophy Focal sensory visual seizures are common, these may evolve to focal to bilateral tonic-clonic seizures. Many cases respond to anti-seizure medications, however some require a gluten free diet for seizure control
alternative_term: CEC
alternative_term: celiac disease, epilepsy, and cerebral calcification syndrome
has_related_synonym: bilateral occipital calcifications with epilepsy
has_related_synonym: celiac disease epilepsy occipital calcifications
has_related_synonym: epilepsy occipital calcifications
has_related_synonym: epilepsy with bilateral occipital calcifications
has_related_synonym: familial unilateral and bilateral occipital calcifications and epilepsy
id: MONDO:0009187
in subset: ordo disease
from ILAE: true

Axiom
annotated source: celiac disease-epilepsy-cerebral calcification syndrome
annotated property: hasDefinition
annotated target: An association between epilepsy and celiac disease has been debated however has not been convincingly established in more careful studies. Celiac disease, epilepsy and occipital calcifications is a rare condition with the following characteristics: Mean age at onset is 6 years Bilateral cortical/subcortical parieto-occipital calcifications without brain atrophy Focal sensory visual seizures are common, these may evolve to focal to bilateral tonic-clonic seizures. Many cases respond to anti-seizure medications, however some require a gluten free diet for seizure control

pyridoxine-dependent epilepsy
type: Class
subclass of: metabolic etiology
definition: Pyridoxine-dependent epilepsy (PDE) is a rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).
imported from: mondo.owl
database_cross_reference: GARD:0009298
database_cross_reference: ICD10:G40.8
database_cross_reference: MESH:C536254
database_cross_reference: Orphanet:3006
database_cross_reference: SCTID:734434007
database_cross_reference: UMLS:C1849508
database_cross_reference: UMLS:CN203406
has definition: In pyridoxine dependent epilepsy, there is a defect in α-aminoadipic semialdehyde (AASA) dehydrogenase, with accumulation of products that inactivate pyridoxal-5-phosphate (PLP). Biochemical markers include increased AASA (specific) and pipecolic acid (non specific) in urine, plasma and CSF (even on treatment). The diagnosis is supported by finding a mutation in the antiquitin gene (ALDH7A1, chromosome 5q31). In pyridoxine 5' phosphate oxidase (PNPO) deficiency, biochemical markers may be unhelpful with only subtle findings. Pyridoxine supplementation is ineffective, the patients require PLP to ameliorate the neurological condition.
alternative_term: antiquitin deficiency
alternative_term: pyridoxine-dependent epilepsy
alternative_term: vitamin B6-dependent seizures
has_related_synonym: AASA dehydrogenase deficiency
has_related_synonym: EPD
has_related_synonym: epilepsy, pyridoxine-dependent
has_related_synonym: epilepsy, pyridoxine-dependent; Epd
has_related_synonym: pyridoxine dependency
has_related_synonym: pyridoxine dependency with seizures
id: MONDO:0009945
in subset: gard rare
in subset: ordo disease
from ILAE: true

Axiom
annotated source: pyridoxine-dependent epilepsy
annotated property: hasDefinition
annotated target: In pyridoxine dependent epilepsy, there is a defect in α-aminoadipic semialdehyde (AASA) dehydrogenase, with accumulation of products that inactivate pyridoxal-5-phosphate (PLP). Biochemical markers include increased AASA (specific) and pipecolic acid (non specific) in urine, plasma and CSF (even on treatment). The diagnosis is supported by finding a mutation in the antiquitin gene (ALDH7A1, chromosome 5q31). In pyridoxine 5' phosphate oxidase (PNPO) deficiency, biochemical markers may be unhelpful with only subtle findings. Pyridoxine supplementation is ineffective, the patients require PLP to ameliorate the neurological condition.

tetrasomy 12p
type: Class
subclass of: chromosomal anomaly
definition: Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p.
imported from: mondo.owl
database_cross_reference: GARD:0008421
database_cross_reference: ICD10:Q99.8
database_cross_reference: ICD9:758.81
database_cross_reference: MESH:C538105
database_cross_reference: NCIT:C75458
database_cross_reference: OMIM:601803
database_cross_reference: Orphanet:884
database_cross_reference: SCTID:9527009
database_cross_reference: UMLS:C0265449
has definition: This chromosomal abnormality results in dysmorphic features that include a coarsened flat facies, high forehead, reduced scalp hair over the frontal and temporal regions, hypertelorism, a broad nasal bridge, a small anteverted nose, a high arched palate, microretrognathia, a cupid-bow shaped upper lip and low-set ears. There may be cardiac, diaphragmatic and ocular abnormalities. There is developmental delay, severe intellectual impairment and epilepsy. Seizures of varied types have been reported, including epileptic spasms. The disorder is sporadic. Most patients are mosaic for tetrasomy 12p and it may be undetectable in blood lymphocytes. To diagnose this disorder, examination of fibroblasts may be required.
alternative_term: Isochromosome 12p mosaicism
alternative_term: Isochromosome 12p syndrome
alternative_term: Pallister-Killian syndrome
alternative_term: tetrasomy type 12p
has_related_synonym: Hexasomy 12P, Mosaic
has_related_synonym: Isochromosome 12P syndrome
has_related_synonym: Killian Teschler-Nicola syndrome
has_related_synonym: Killian syndrome
has_related_synonym: PKS
has_related_synonym: Pallister Killian syndrome
has_related_synonym: Pallister mosaic syndrome
has_related_synonym: Pallister-Killian mosaic syndrome
has_related_synonym: Pallister-Killian syndrome; PKS
has_related_synonym: Teschler-Nicola Killian syndrome
has_related_synonym: chromosome 12, Isochromosome 12p syndrome
has_related_synonym: tetrasomy 12P, Mosaic
id: MONDO:0011146
in subset: ordo malformation syndrome
from ILAE: true

Axiom
annotated source: tetrasomy 12p
annotated property: hasDefinition
annotated target: This chromosomal abnormality results in dysmorphic features that include a coarsened flat facies, high forehead, reduced scalp hair over the frontal and temporal regions, hypertelorism, a broad nasal bridge, a small anteverted nose, a high arched palate, microretrognathia, a cupid-bow shaped upper lip and low-set ears. There may be cardiac, diaphragmatic and ocular abnormalities. There is developmental delay, severe intellectual impairment and epilepsy. Seizures of varied types have been reported, including epileptic spasms. The disorder is sporadic. Most patients are mosaic for tetrasomy 12p and it may be undetectable in blood lymphocytes. To diagnose this disorder, examination of fibroblasts may be required.

seizures, benign familial infantile, 2
type: Class
subclass of: benign familial infantile epilepsy
imported from: mondo.owl
database_cross_reference: MESH:C565296
database_cross_reference: OMIM:605751
database_cross_reference: UMLS:C1853995
has definition: Benign familial infantile seizure is an autosomal dominant disorder characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae. Seizures usually remit by age 18 months
alternative_term: benign familial infantile seizure
alternative_term: seizures, benign familial infantile, 2
alternative_term: seizures, benign familial infantile, type 2
has_related_synonym: BFIS2
has_related_synonym: convulsions, benign familial infantile, 2
has_related_synonym: seizures, benign familial infantile, 2; BFIS2
id: MONDO:0011593
from EPILONT: true

Axiom
annotated source: seizures, benign familial infantile, 2
annotated property: hasDefinition
annotated target: Benign familial infantile seizure is an autosomal dominant disorder characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae. Seizures usually remit by age 18 months

intracerebral hemorrhage
type: Class
subclass of: Cerebral hemorrhage
definition: Bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma.
imported from: mondo.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/2512371
database_cross_reference: EFO:0005669
database_cross_reference: ICD9:431
database_cross_reference: MESH:D002543
database_cross_reference: OMIM:614519
database_cross_reference: SCTID:274100004
has_related_synonym: hemorrhage, intracerebral, susceptibility to
has_related_synonym: hemorrhage, intracerebral, susceptibility to; ich
has_related_synonym: ich
has_related_synonym: stroke, hemorrhagic, susceptibility to
id: MONDO:0013792
comment: Editor note: consider separate subclass for OMIM ID
from pub med: true

myoclonic-atonic epilepsy
type: Class
subclass of: childhood-onset epilepsy syndrome
imported from: mondo.owl
database_cross_reference: OMIM:616421
database_cross_reference: UMLS:C4085238
has definition: Epilepsy with myoclonic-atonic seizures (previously known as epilepsy with myoclonic astatic seizures, or Doose syndrome) is a syndrome characterized by the presence of myoclonic-atonic seizures in an otherwise normal child who may have a history of febrile and/or afebrile seizures. There is often a family history of seizures.
alternative_term: Doose syndrome
alternative_term: Epilepsy with myoclonic-atonic seizures
alternative_term: myoclonic-atonic epilepsy
has_related_synonym: mae
has_related_synonym: myoclonic-atonic epilepsy; mae
id: MONDO:0014633
from ILAE: true

Axiom
annotated source: myoclonic-atonic epilepsy
annotated property: hasDefinition
annotated target: Epilepsy with myoclonic-atonic seizures (previously known as epilepsy with myoclonic astatic seizures, or Doose syndrome) is a syndrome characterized by the presence of myoclonic-atonic seizures in an otherwise normal child who may have a history of febrile and/or afebrile seizures. There is often a family history of seizures.

ring chromosome 14
type: Class
subclass of: chromosomal anomaly
definition: Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.
imported from: mondo.owl
database_cross_reference: GARD:0006072
database_cross_reference: ICD10:Q93.2
database_cross_reference: ICD9:758.89
database_cross_reference: MESH:C535487
database_cross_reference: OMIM:616606
database_cross_reference: Orphanet:1440
database_cross_reference: SCTID:702345009
database_cross_reference: UMLS:CN233170
has definition: This is a rare chromosomal disorder, consistently associated with epilepsy. The epilepsy is usually of early onset and seizures are intractable but there are no recognized distinctive seizure or electrographic features. Focal seizures facilitated during febrile illness and Ohtahara syndrome have been reported associated with this chromosomal abnormality. Intellectual impairment (moderate-severe), microcephaly, facial dysmorphism (narrow long face, retrognathia, short neck), cardiac (pulmonary stenosis) and ocular abnormalities (cataract, retinal pigmentation, macular abnormality) occur. Most cases are sporadic, but familial cases have been reported. Most patients are mosaic for ring 14 abnormality. To diagnose this disorder a karyotype should be performed examining 50-100 mitoses, this has to be specifically requested, as it may not be part of routine karyotype assessment. CGH microarray may not detect this disorder if no deletion occurs in the ring formation.
alternative_term: Ring chromosome type 14
has_related_synonym: RING chromosome 14 syndrome
has_related_synonym: Ring 14
has_related_synonym: chromosome 14 ring
id: MONDO:0014708
in subset: gard rare
in subset: ordo malformation syndrome
from ILAE: true

Axiom
annotated source: ring chromosome 14
annotated property: hasDefinition
annotated target: This is a rare chromosomal disorder, consistently associated with epilepsy. The epilepsy is usually of early onset and seizures are intractable but there are no recognized distinctive seizure or electrographic features. Focal seizures facilitated during febrile illness and Ohtahara syndrome have been reported associated with this chromosomal abnormality. Intellectual impairment (moderate-severe), microcephaly, facial dysmorphism (narrow long face, retrognathia, short neck), cardiac (pulmonary stenosis) and ocular abnormalities (cataract, retinal pigmentation, macular abnormality) occur. Most cases are sporadic, but familial cases have been reported. Most patients are mosaic for ring 14 abnormality. To diagnose this disorder a karyotype should be performed examining 50-100 mitoses, this has to be specifically requested, as it may not be part of routine karyotype assessment. CGH microarray may not detect this disorder if no deletion occurs in the ring formation.

opsoclonus-myoclonus syndrome
type: Class
subclass of: rare paroxysmal movement disorder
definition: Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders.
imported from: mondo.owl
database_cross_reference: EFO:1001383
database_cross_reference: GARD:0010009
database_cross_reference: ICD10:G25.3
database_cross_reference: ICD9:379.59
database_cross_reference: MESH:D053578
database_cross_reference: MedDRA:10053854
database_cross_reference: NCIT:C4686
database_cross_reference: Orphanet:1183
database_cross_reference: SCTID:230350000
database_cross_reference: UMLS:C0393626
has definition: Opsoclonus-myoclonus syndrome is an autoimmune neurological disorder that may be seen in association with neuroblastoma, following viral infections or may be of unknown cause. The earliest feature is often ataxia followed by opsoclonus (multidirectional, erratic, darting eye movements). Myoclonus is a mixture of small- and larger-amplitude muscle jerks, giving rise to a tremulous appearance. Myoclonus is primarily action-induced, but in severe cases is present at rest. The eye movement abnormality and myoclonus may initially be thought to be epileptic, however the pattern of eye movements allows them to be distinguished from eye movements seen in typical absence seizures.
alternative_term: Ataxo-opso-myoclonus syndrome
alternative_term: Kinsbourne syndrome
alternative_term: OMS
alternative_term: POMA syndrome
alternative_term: dancing eye syndrome
alternative_term: dancing eye-dancing feet syndrome
alternative_term: oma syndrome
alternative_term: opsoclonus myoclonus syndrome
alternative_term: opsoclonus-myoclonus-ataxia syndrome
alternative_term: paraneoplastic opsoclonus-myoclonus
alternative_term: paraneoplastic opsoclonus-myoclonus-ataxia syndrome
id: MONDO:0015247
in subset: ordo disease
from ILAE: true

Axiom
annotated source: opsoclonus-myoclonus syndrome
annotated property: hasDefinition
annotated target: Opsoclonus-myoclonus syndrome is an autoimmune neurological disorder that may be seen in association with neuroblastoma, following viral infections or may be of unknown cause. The earliest feature is often ataxia followed by opsoclonus (multidirectional, erratic, darting eye movements). Myoclonus is a mixture of small- and larger-amplitude muscle jerks, giving rise to a tremulous appearance. Myoclonus is primarily action-induced, but in severe cases is present at rest. The eye movement abnormality and myoclonus may initially be thought to be epileptic, however the pattern of eye movements allows them to be distinguished from eye movements seen in typical absence seizures.

Jeavons syndrome
type: Class
subclass of: childhood-onset epilepsy syndrome
definition: Jeavons syndrome is an idiopathic generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures.
imported from: mondo.owl
database_cross_reference: ICD10:G40.3
database_cross_reference: Orphanet:139431
database_cross_reference: SCTID:716278005
database_cross_reference: UMLS:C4274731
database_cross_reference: UMLS:CN199399
has definition: This syndrome (previously known as Jeavons syndrome) is characterized by daily eyelid myoclonias with or without absences induced by eye closure and visual stimulation, seen in an otherwise normal child.This syndrome is characterized by onset of seizures between 2-14 years (peak 6-8 years). Both sexes are affected with a female predominance (2F:M). Antecedent and birth history is normal. Head size and neurological examination are normal. Development and cognition are typically normal although individuals with borderline intellectual functioning and intellectual disability are seen.
alternative_term: EMEA
alternative_term: epilepsy with eyelid myoclonias
alternative_term: eyelid myoclonia with and without absences
id: MONDO:0015346
in subset: ordo disease
from ILAE: true

Axiom
annotated source: Jeavons syndrome
annotated property: hasDefinition
annotated target: This syndrome (previously known as Jeavons syndrome) is characterized by daily eyelid myoclonias with or without absences induced by eye closure and visual stimulation, seen in an otherwise normal child.This syndrome is characterized by onset of seizures between 2-14 years (peak 6-8 years). Both sexes are affected with a female predominance (2F:M). Antecedent and birth history is normal. Head size and neurological examination are normal. Development and cognition are typically normal although individuals with borderline intellectual functioning and intellectual disability are seen.

ring chromosome 20
type: Class
subclass of: chromosomal anomaly
definition: Ring chromosome 20 syndrome is marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioural problems. In rare cases, brain, kidney or heart malformations may be present.
imported from: mondo.owl
database_cross_reference: GARD:0001334
database_cross_reference: ICD10:Q93.2
database_cross_reference: ICD9:758.89
database_cross_reference: MESH:C580424
database_cross_reference: Orphanet:1444
database_cross_reference: SCTID:23686004
has definition: This is a rare chromosomal disorder with epilepsy as the striking feature. Although some patients may have microcephaly, intellectual impairment (two thirds of patients) and behavioral disorders, there are few distinctive clinical features that aid identification of this syndrome. Dysmorphic features are not expected. Most cases are sporadic, but familial cases have been reported. Mosaicism is common with intellectual impairment (but not the epilepsy) correlating with the degree of mosaicism. Nocturnal frontal lobe seizures are common. Around 50% of patients report frightening visual hallucinations during their focal seizures. Seizures may manifest as prolonged confusional states, lasting minutes to half an hour, during which the patient may be motionless and staring or may have automatisms and confused wandering. Perioral and eyelid myoclonic jerks may accompany these events. The ictal EEG shows long periods of widespread rhythmic theta and high-amplitude 2-3 Hz rhythmic, notched, frontally predominant, slow waves. Spike-and-wave is of low amplitude. Interictal EEG may be normal or show focal bi-fronto-temporal spikes. Seizures are usually frequent and intractable to medications. To diagnose this disorder a karyotype should be performed examining 50-100 mitoses, this has to be specifically requested, as it may not be part of routine karyotype assessment. CGH microarray may not detect this disorder if no deletion occurs in the ring formation.
alternative_term: Ring chromosome type 20
has_related_synonym: R20
has_related_synonym: Ring 20
has_related_synonym: Ring chromosome 20 syndrome
has_related_synonym: chromosome 20 ring
id: MONDO:0015436
in subset: gard rare
in subset: ordo malformation syndrome
from ILAE: true

Axiom
annotated source: ring chromosome 20
annotated property: hasDefinition
annotated target: This is a rare chromosomal disorder with epilepsy as the striking feature. Although some patients may have microcephaly, intellectual impairment (two thirds of patients) and behavioral disorders, there are few distinctive clinical features that aid identification of this syndrome. Dysmorphic features are not expected. Most cases are sporadic, but familial cases have been reported. Mosaicism is common with intellectual impairment (but not the epilepsy) correlating with the degree of mosaicism. Nocturnal frontal lobe seizures are common. Around 50% of patients report frightening visual hallucinations during their focal seizures. Seizures may manifest as prolonged confusional states, lasting minutes to half an hour, during which the patient may be motionless and staring or may have automatisms and confused wandering. Perioral and eyelid myoclonic jerks may accompany these events. The ictal EEG shows long periods of widespread rhythmic theta and high-amplitude 2-3 Hz rhythmic, notched, frontally predominant, slow waves. Spike-and-wave is of low amplitude. Interictal EEG may be normal or show focal bi-fronto-temporal spikes. Seizures are usually frequent and intractable to medications. To diagnose this disorder a karyotype should be performed examining 50-100 mitoses, this has to be specifically requested, as it may not be part of routine karyotype assessment. CGH microarray may not detect this disorder if no deletion occurs in the ring formation.

febrile infection-related epilepsy syndrome
type: Class
subclass of: unknown etiology
definition: Febrile infection-related epilepsy syndrome (FIRES) describes an explosive-onset, potentially fatal acute epileptic encephalopathy that develops in previously healthy children and adolescents following the onset of a non-specific febrile illness.
imported from: mondo.owl
database_cross_reference: GARD:0011005
database_cross_reference: ICD10:G40.5
database_cross_reference: Orphanet:163703
database_cross_reference: SCTID:725413002
database_cross_reference: UMLS:CN199955
has definition: Febrile infection related epilepsy syndrome (FIRES) has previously also been known as fever induced refractory epilepsy in school-aged children, devastating epileptic encephalopathy in school aged children (DESC) and acute encephalitis with refractory repetitive partial seizures (AERRPS). It is a severe post-infectious neurological disorder that presents with intractable status epilepticus in a previously normal child (or less commonly adult) after a febrile illness. If the patient survives, they have intellectual and motor impairment and ongoing intractable seizures.
alternative_term: AERRPS
alternative_term: DESC syndrome
alternative_term: FIRES
alternative_term: acute encephalitis with refractory repetitive partial seizures
alternative_term: acute non-herpetic encephalitis with severe refractory status epilepticus
alternative_term: devastating epileptic encephalopathy in school-aged children
alternative_term: fever-induced refractory epileptic encephalopathy in school-aged children
alternative_term: idiopathic catastrophic epileptic encephalopathy
alternative_term: severe refractory status epilepticus owing to presumed encephalitis
has_related_synonym: status epilepticus owing to presumed encephalitis
id: MONDO:0015584
in subset: gard rare
in subset: ordo disease
from ILAE: true

Axiom
annotated source: febrile infection-related epilepsy syndrome
annotated property: hasDefinition
annotated target: Febrile infection related epilepsy syndrome (FIRES) has previously also been known as fever induced refractory epilepsy in school-aged children, devastating epileptic encephalopathy in school aged children (DESC) and acute encephalitis with refractory repetitive partial seizures (AERRPS). It is a severe post-infectious neurological disorder that presents with intractable status epilepticus in a previously normal child (or less commonly adult) after a febrile illness. If the patient survives, they have intellectual and motor impairment and ongoing intractable seizures.

benign partial infantile seizures
type: Class
subclass of: infantile epilepsy syndrome
imported from: mondo.owl
database_cross_reference: Orphanet:166311
id: MONDO:0015642
in subset: ordo group of disorders

startle epilepsy
type: Class
subclass of: reflex epilepsy
definition: Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability.
imported from: mondo.owl
database_cross_reference: ICD10:G40.8
database_cross_reference: Orphanet:166427
database_cross_reference: SCTID:763632004
database_cross_reference: UMLS:CN200058
id: MONDO:0015648
in subset: ordo disease
from EPILONT: true
from ESSO: true

epilepsy syndrome
type: Class
subclass of: International League Against Epilepsy classification
subclass of: Restriction
  on property: isSyndromeFor
  some values from: epilepsy
imported from: mondo.owl
database_cross_reference: Orphanet:166463
alternative_term: syndromic epilepsy
id: MONDO:0015650
in subset: ordo group of disorders

idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes
type: Class
subclass of: epilepsy
imported from: mondo.owl
database_cross_reference: Orphanet:166475
database_cross_reference: UMLS:CN200064
id: MONDO:0015654
in subset: ordo group of disorders

inflammatory and autoimmune disease with epilepsy
type: Class
subclass of: epilepsy
imported from: mondo.owl
database_cross_reference: Orphanet:166484
database_cross_reference: UMLS:CN200066
id: MONDO:0015657
in subset: ordo group of disorders

infectious disease with epilepsy
type: Class
subclass of: epilepsy
imported from: mondo.owl
database_cross_reference: Orphanet:166490
database_cross_reference: UMLS:CN200068
id: MONDO:0015659
in subset: ordo group of disorders

trisomy 12p
type: Class
subclass of: chromosomal anomaly
definition: Trisomy 12p is an extremely rare chromosomal disorder (over 30 cases reported worldwide) characterized by craniofacial malformations (round face, prominent cheeks, high bulging forehead, broad and flat nasal bridge, short nose with anteverted nostrils, long philtrum, prominent and everted lower lip, low-set ears, abnormally folded helix, protuberant antihelix), postnatal growth retardation, mental and psychomotor retardation, generalized hypotonia, abnormally short wide hands and/or other abnormalities.
imported from: mondo.owl
database_cross_reference: GARD:0005305
database_cross_reference: ICD10:Q92.3
database_cross_reference: MESH:C538299
database_cross_reference: Orphanet:1699
database_cross_reference: UMLS:C0795845
has definition: Trisomy 12p is a chromosomal abnormality that results in developmental delay, intellectual impairment and a number of dysmorphic features including turricephaly, a flattened occiput, short neck, rounded facies with prominent cheeks, high prominent forehead, hypertelorism, epicanthic folds, broad nasal bridge and other facial dysmorphism. Cardiac and limb defects may occur. Structural brain abnormalities include polymicrogyria and focal cortical dysplasia. Seizures are often generalized, with myoclonic absences and myoclonic seizures reported, EEGs have shown 3Hz generalized spike-and-wave.
alternative_term: Duplication 12p
alternative_term: trisomy type 12p
has_related_synonym: 12p duplication
has_related_synonym: 12p trisomy
has_related_synonym: chromosome 12p duplication
has_related_synonym: partial trisomy 12p
id: MONDO:0015723
in subset: ordo malformation syndrome
from ILAE: true

Axiom
annotated source: trisomy 12p
annotated property: hasDefinition
annotated target: Trisomy 12p is a chromosomal abnormality that results in developmental delay, intellectual impairment and a number of dysmorphic features including turricephaly, a flattened occiput, short neck, rounded facies with prominent cheeks, high prominent forehead, hypertelorism, epicanthic folds, broad nasal bridge and other facial dysmorphism. Cardiac and limb defects may occur. Structural brain abnormalities include polymicrogyria and focal cortical dysplasia. Seizures are often generalized, with myoclonic absences and myoclonic seizures reported, EEGs have shown 3Hz generalized spike-and-wave.

rare neuroinflammatory or neuroimmunological disease
type: Class
subclass of: nervous system disease
imported from: mondo.owl
database_cross_reference: Orphanet:182064
database_cross_reference: UMLS:CN200514
id: MONDO:0015916
in subset: obsoletion candidate
in subset: ordo group of disorders

malignant glioma
type: Class
subclass of: glioma
definition: A grade III or grade IV glioma arising from the central nervous system. This category includes glioblastoma, anaplastic astrocytoma, anaplastic ependymoma, anaplastic oligodendroglioma, and anaplastic oligoastrocytoma.
imported from: mondo.owl
has_broad_synonym: glioma
has_broad_synonym: neuroglial tumor
database_cross_reference: DOID:3070
database_cross_reference: ICDO:9380/3
database_cross_reference: KEGG:05214
database_cross_reference: MedDRA:10018338
database_cross_reference: NCIT:C4822
database_cross_reference: OMIMPS:137800
database_cross_reference: Orphanet:182067
database_cross_reference: UMLS:C0555198
alternative_term: glial cell tumor
alternative_term: glioma, malignant
alternative_term: high grade glioma
alternative_term: high-grade glioma
alternative_term: malignant glial neoplasm
alternative_term: malignant glial tumor
alternative_term: malignant glioma
alternative_term: malignant neuroglial neoplasm
alternative_term: malignant neuroglial tumor
id: MONDO:0015917
in subset: ordo group of disorders

Rasmussen subacute encephalitis
type: Class
subclass of: immune etiology
definition: A rare, progressive chronic inflammation of a single cerebral hemisphere that usually affects children. It is characterized by severe seizures, loss of motor skills and speech, hemiparesis, and dementia.
imported from: mondo.owl
database_cross_reference: GARD:0007527
database_cross_reference: ICD10:G04.8
database_cross_reference: ICD9:323.9
database_cross_reference: MESH:C535291
database_cross_reference: NCIT:C125384
database_cross_reference: Orphanet:1929
database_cross_reference: SCTID:230191005
database_cross_reference: UMLS:C2930868
has definition: This epilepsy is associated with onset of seizures between 1-10 years of age (peak 5-6 years), later onset is exceptional. Both sexes are affected equally. Antecedent and birth history is usually normal. Head size and neurological examination are usually normal prior to onset of the epilepsy. With time, a progressive hemiparesis develops. Some children may first present with a unilateral movement disorder (hemidystonia, hemiathetosis) prior to onset of seizures. Iritis has been reported as an antecedent condition. CSF may show non-specific findings including the presence of oligo- or monoclonal bands. There are three stages to the illness i) an initial prodromal phase with infrequent seizures and no hemiparesis ii) an acute phase with frequent seizures and development of hemiparesis and iii) a residual stage with permanent stable hemiparesis.
alternative_term: CFE
alternative_term: Rasmussen Encephalitis
alternative_term: Rasmussen encephalitis
alternative_term: Rasmussen syndrome
alternative_term: chronic focal encephalitis
has_related_synonym: RE
id: MONDO:0016019
in subset: ordo disease
from ILAE: true

Axiom
annotated source: Rasmussen subacute encephalitis
annotated property: hasDefinition
annotated target: This epilepsy is associated with onset of seizures between 1-10 years of age (peak 5-6 years), later onset is exceptional. Both sexes are affected equally. Antecedent and birth history is usually normal. Head size and neurological examination are usually normal prior to onset of the epilepsy. With time, a progressive hemiparesis develops. Some children may first present with a unilateral movement disorder (hemidystonia, hemiathetosis) prior to onset of seizures. Iritis has been reported as an antecedent condition. CSF may show non-specific findings including the presence of oligo- or monoclonal bands. There are three stages to the illness i) an initial prodromal phase with infrequent seizures and no hemiparesis ii) an acute phase with frequent seizures and development of hemiparesis and iii) a residual stage with permanent stable hemiparesis.

benign neonatal seizures
type: Class
subclass of: neonatal epilepsy syndrome
definition: Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.
imported from: mondo.owl
database_cross_reference: DOID:14264
database_cross_reference: ICD10:G40.3
database_cross_reference: MedDRA:10067866
database_cross_reference: NCIT:C117307
database_cross_reference: OMIMPS:121200
database_cross_reference: Orphanet:1949
database_cross_reference: SCTID:38281008
alternative_term: BFNS
alternative_term: benign Familal neonatal seizures
alternative_term: benign familial convulsion
alternative_term: benign familial convulsions
alternative_term: benign familial neonatal convulsions
alternative_term: benign familial neonatal seizures
alternative_term: benign neonatal convulsions
alternative_term: seizures, benign familial neonatal
id: MONDO:0016027
in subset: ordo disease

paroxysmal dystonia
type: Class
subclass of: movement disease
imported from: mondo.owl
database_cross_reference: ICD9:333.99
database_cross_reference: Orphanet:200037
database_cross_reference: SCTID:230310003
has definition: Paroxysmal dystonia (historically known as tonic spasms or tonic seizures) is a type of fluctuating dystonia characterized by repetitive and patterned twisting movements and abnormal postures lasting seconds to hours (Demirkiran and Jankovic, 1995). Bouts of paroxysmal dystonia occur when opposing muscle groups contract simultaneously. Paroxysmal dystonia may affect the face, arm, or leg and is often precipitated by tactile stimulation, voluntary movement, loud noise, or hyperventilation.
id: MONDO:0016058
in subset: ordo group of disorders

Axiom
annotated source: paroxysmal dystonia
annotated property: hasDefinition
annotated target: Paroxysmal dystonia (historically known as tonic spasms or tonic seizures) is a type of fluctuating dystonia characterized by repetitive and patterned twisting movements and abnormal postures lasting seconds to hours (Demirkiran and Jankovic, 1995). Bouts of paroxysmal dystonia occur when opposing muscle groups contract simultaneously. Paroxysmal dystonia may affect the face, arm, or leg and is often precipitated by tactile stimulation, voluntary movement, loud noise, or hyperventilation.

narcolepsy-cataplexy syndrome
type: Class
subclass of: sleep disorder
definition: Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions).
imported from: mondo.owl
database_cross_reference: EFO:0000614
database_cross_reference: GARD:0007162
database_cross_reference: ICD10:G47.4
database_cross_reference: ICD10:G47.41
database_cross_reference: ICD10:G47.419
database_cross_reference: ICD9:347.0
database_cross_reference: MedDRA:10028713
database_cross_reference: Orphanet:2073
has definition: Narcolepsy-cataplexy is a lifelong neurological disorder of sleep state boundary control in which the distinctions between sleep states, particularly REM sleep, and wakening are blurred.
alternative_term: GC)lineau disease
alternative_term: Gélineau disease
alternative_term: narcolepsy with cataplexy
alternative_term: narcolepsy-cataplexy syndrome
has_related_synonym: Gelineau syndrome
has_related_synonym: Gelineau's syndrome
has_related_synonym: narcoleptic syndrome
has_related_synonym: paroxysmal sleep
id: MONDO:0016158
in subset: gard rare
in subset: ordo disease
from ILAE: true

Axiom
annotated source: narcolepsy-cataplexy syndrome
annotated property: hasDefinition
annotated target: Narcolepsy-cataplexy is a lifelong neurological disorder of sleep state boundary control in which the distinctions between sleep states, particularly REM sleep, and wakening are blurred.

nodular neuronal heterotopia
type: Class
subclass of: brain disease
imported from: mondo.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/15146004
database_cross_reference: GARD:0002661
database_cross_reference: ICD10:Q04.8
database_cross_reference: Orphanet:2149
database_cross_reference: SCTID:253151003
has definition: Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.
alternative_term: Nodular Heterotopias
alternative_term: genetic nodular heterotopia
alternative_term: nodular heterotopia
has_related_synonym: hereditary nodular heterotopia
id: MONDO:0016292
in subset: ordo morphological anomaly
from pub med: true

Axiom
annotated source: nodular neuronal heterotopia
annotated property: hasDefinition
annotated target: Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.

megalencephaly (disease)
type: Class
subclass of: brain disease
definition: A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with hydrocephalus; subdural effusion; arachnoid cysts; or is part of a genetic condition (e.g., alexander disease; sotos syndrome).
imported from: mondo.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28658095
database_cross_reference: HP:0001355
database_cross_reference: ICD10:Q04.5
database_cross_reference: ICD9:742.4
database_cross_reference: MESH:D058627
database_cross_reference: MedDRA:10050183
database_cross_reference: Orphanet:2477
database_cross_reference: SCTID:9740002
alternative_term: macroencephaly
alternative_term: megalencephaly
id: MONDO:0016608
in subset: ordo malformation syndrome
from pub med: true

low-grade astrocytoma
type: Class
subclass of: low grade astrocytic tumor
imported from: mondo.owl
database_cross_reference: MedDRA:10065869
database_cross_reference: Orphanet:251592
id: MONDO:0016685
in subset: ordo group of disorders

diffuse astrocytoma
type: Class
subclass of: low-grade astrocytoma
subclass of: grade II glioma
definition: A low-grade (WHO grade II) astrocytic neoplasm. It is characterized by diffuse infiltration of neighboring central nervous system structures. These lesions typically affect young adults and have a tendency for progression to anaplastic astrocytoma and glioblastoma. Based on the IDH genes mutation status, diffuse astrocytomas are classified as IDH-mutant, IDH-wildtype, and not otherwise specified.
imported from: mondo.owl
database_cross_reference: GARD:0005907
database_cross_reference: ICD10:C71.9
database_cross_reference: NCIT:C7173
database_cross_reference: ONCOTREE:DASTR
database_cross_reference: Orphanet:251595
database_cross_reference: UMLS:C0280785
alternative_term: WHO grade II astrocytoma
alternative_term: astrocytoma, diffuse
alternative_term: astrocytoma, diffuse, malignant
alternative_term: diffuse astrocytoma
alternative_term: grade II astrocytic neoplasm
alternative_term: grade II astrocytic tumor
alternative_term: grade II astrocytoma
has_related_synonym: fibrillary astrocytoma (histologic variant)
has_related_synonym: gemistocytic astrocytoma (histologic variant)
has_related_synonym: low-grade astrocytoma, NOS
has_related_synonym: low-grade diffuse astrocytoma
has_related_synonym: protoplasmic astrocytoma (histologic variant)
id: MONDO:0016686
in subset: ordo disease

fibrillary astrocytoma
type: Class
subclass of: diffuse astrocytoma
definition: The most frequent histological variant of diffuse astrocytoma. It is predominantly composed of fibrillary neoplastic astrocytes. Nuclear atypia is a diagnostic criterion but mitotic activity, necrosis and microvascular proliferation are absent. The occasional or regional occurrence of gemistocytic neoplastic cells is compatible with the diagnosis of fibrillary astrocytoma. (WHO)
imported from: mondo.owl
database_cross_reference: DOID:6726
database_cross_reference: ICD10:C71.9
database_cross_reference: ICDO:9420/3
database_cross_reference: MedDRA:10065889
database_cross_reference: NCIT:C4322
database_cross_reference: Orphanet:251601
database_cross_reference: UMLS:C0334582
alternative_term: diffuse astrocytoma
alternative_term: fibrillary astrocytic tumors
alternative_term: fibrillary astrocytoma
id: MONDO:0016688
in subset: ordo histopathological subtype
from article: true

oligoastrocytic tumor
type: Class
subclass of: malignant glioma
imported from: mondo.owl
database_cross_reference: Orphanet:251651
database_cross_reference: UMLS:CN201945
alternative_term: mixed oligodendroglial and astrocytic tumor
id: MONDO:0016701
in subset: ordo group of disorders

oligoastrocytoma
type: Class
subclass of: oligoastrocytic tumor
subclass of: grade II glioma
definition: A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)
imported from: mondo.owl
database_cross_reference: DOID:7912
database_cross_reference: EFO:0000630
database_cross_reference: GARD:0009769
database_cross_reference: ICD10:C71.9
database_cross_reference: MedDRA:10027744
database_cross_reference: NCIT:C4050
database_cross_reference: ONCOTREE:OAST
database_cross_reference: Orphanet:251656
database_cross_reference: SCTID:716647001
database_cross_reference: UMLS:C0280793
alternative_term: MOA
alternative_term: WHO grade II mixed glioma
alternative_term: glioma, mixed, benign
alternative_term: mixed astrocytic-oligodendroglial neoplasm
alternative_term: mixed astrocytic-oligodendroglial tumor
alternative_term: mixed astrocytoma-oligodendroglioma
alternative_term: mixed oligo-astrocytoma
alternative_term: mixed oligoastrocytoma
alternative_term: mixed oligodendroglioma-astrocytoma
alternative_term: oligoastrocytoma
id: MONDO:0016702
in subset: gard rare
in subset: ordo disease

angiocentric glioma
type: Class
subclass of: low grade glioma
definition: Angiocentric glioma (AG) is an extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes, and characterized by intractable seizures and headaches, with most cases being cured by surgical incision alone and therefore having a good prognosis.
imported from: mondo.owl
database_cross_reference: ICD10:C71.9
database_cross_reference: ICDO:9431/1
database_cross_reference: NCIT:C92552
database_cross_reference: ONCOTREE:ANGL
database_cross_reference: Orphanet:251671
database_cross_reference: UMLS:C2363903
alternative_term: Monomorphus angiocentric glioma
alternative_term: angiocentric glioma (WHO grade I)
alternative_term: angiocentric neuroepithelial tumor
has_related_synonym: ANGL
id: MONDO:0016705
in subset: ordo disease
from article: true

Spasmus nutans (disease)
type: Class
subclass of: Miscellaneous
definition: Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis.
imported from: mondo.owl
database_cross_reference: HP:0010533
database_cross_reference: ICD10:F98.4
database_cross_reference: MedDRA:10059593
database_cross_reference: Orphanet:279882
database_cross_reference: SCTID:400948003
database_cross_reference: UMLS:C1527306
has definition: This disorder of eye movement is seen in infants, typically with onset between 4 and 12 months of age. The cause is unknown; neuroimaging is required to exclude structural brain abnormalities. Vertical eye movements occur, these are rapid and side-to-side. There may be a head tilt and head nodding. The events resolve with time.
alternative_term: Spasmus nutans
id: MONDO:0017201
in subset: ordo clinical syndrome
from ILAE: true

Axiom
annotated source: Spasmus nutans (disease)
annotated property: hasDefinition
annotated target: This disorder of eye movement is seen in infants, typically with onset between 4 and 12 months of age. The cause is unknown; neuroimaging is required to exclude structural brain abnormalities. Vertical eye movements occur, these are rapid and side-to-side. There may be a head tilt and head nodding. The events resolve with time.

fetal cytomegalovirus syndrome
type: Class
subclass of: cytomegalovirus infection
definition: An infection with the Cytomegalovirus that is present from birth.
imported from: mondo.owl
database_cross_reference: GARD:0001409
database_cross_reference: GARD:0001480
database_cross_reference: ICD10:P35.1
database_cross_reference: NCIT:C122427
database_cross_reference: Orphanet:294
database_cross_reference: SCTID:276701009
database_cross_reference: UMLS:C0349499
has definition: CMV is the commonest fetal viral infection. Fetal CNS infection after 20 weeks gestation can cause malformations of cortical development (including polymycrogyria and schizencephaly), and intracranial calcification in the developing brain. Direct perinatal CNS CMV infection can also occur, with clinical signs manifesting after an incubation period of 2-6 weeks. Overall, 90% of affected infants are asymptomatic at birth, resulting in challenges in early correct diagnosis of CMV neuroinfection. Some of these infants may only present with sensorineural hearing loss at a later date. However, 10% of infants may have early symptoms which may include microcephaly, anaemia, thrombocytopenia, hepatitis, chorioretinitis, neurological impairment and sensorineural hearing impairment. Diagnosis is by detection of CMV DNA in CSF. CMV DNA may also be detected in in urine. Seizures may have onset in the first month of life, in the first year or rarely later. Treatment with gancyclovir may ameliorate the clinical course.
alternative_term: antenatal CMV infection
alternative_term: antenatal cytomegalovirus infection
alternative_term: congenital Cytomegaloviral infection
alternative_term: mother-to-child transmission of cytomegalovirus syndrome
has_related_synonym: CMV antenatal infection
has_related_synonym: congenital cytomegalovirus
id: MONDO:0017409
in subset: gard rare
in subset: ordo disease
from ILAE: true

Axiom
annotated source: fetal cytomegalovirus syndrome
annotated property: hasDefinition
annotated target: CMV is the commonest fetal viral infection. Fetal CNS infection after 20 weeks gestation can cause malformations of cortical development (including polymycrogyria and schizencephaly), and intracranial calcification in the developing brain. Direct perinatal CNS CMV infection can also occur, with clinical signs manifesting after an incubation period of 2-6 weeks. Overall, 90% of affected infants are asymptomatic at birth, resulting in challenges in early correct diagnosis of CMV neuroinfection. Some of these infants may only present with sensorineural hearing loss at a later date. However, 10% of infants may have early symptoms which may include microcephaly, anaemia, thrombocytopenia, hepatitis, chorioretinitis, neurological impairment and sensorineural hearing impairment. Diagnosis is by detection of CMV DNA in CSF. CMV DNA may also be detected in in urine. Seizures may have onset in the first month of life, in the first year or rarely later. Treatment with gancyclovir may ameliorate the clinical course.

motor stereotypies
type: Class
subclass of: movement disease
imported from: mondo.owl
database_cross_reference: Orphanet:306765
has definition: 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). Epileptic automatisms are expected to occur in a person who has impaired awareness, and are seen in association with generalized absence seizures or focal impaired awareness seizures. Epileptic automatisms can occur in association with preserved awareness, in non dominant temporal lobe seizures, however in this situation, other features of temporal lobe seizures are expected to also co-exist.
id: MONDO:0017656
in subset: ordo group of disorders
from ILAE: true

Axiom
annotated source: motor stereotypies
annotated property: hasDefinition
annotated target: 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). Epileptic automatisms are expected to occur in a person who has impaired awareness, and are seen in association with generalized absence seizures or focal impaired awareness seizures. Epileptic automatisms can occur in association with preserved awareness, in non dominant temporal lobe seizures, however in this situation, other features of temporal lobe seizures are expected to also co-exist.

rare paroxysmal movement disorder
type: Class
subclass of: epilepsy imitator
imported from: mondo.owl
database_cross_reference: Orphanet:306768
database_cross_reference: UMLS:CN227171
has_related_synonym: paroxysmal movement disorder
id: MONDO:0017657
in subset: obsoletion candidate
in subset: ordo group of disorders
from ILAE: true

duplication/inversion 15q11
type: Class
subclass of: chromosomal anomaly
definition: Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15 ) which is made of two pieces of chromosome 15 that are stuck together end-to-end. Although the severity of the condition and the associated features vary from person to person, common signs and symptoms include poor muscle tone in newborns; developmental delay; mild to severe intellectual disability; delayed or absent speech; behavioral abnormalities; and seizures . Most cases of isodicentric chromosome 15 syndrome occur sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.
imported from: mondo.owl
database_cross_reference: GARD:0005153
database_cross_reference: ICD10:Q99.8
database_cross_reference: MESH:C580205
database_cross_reference: Orphanet:3306
database_cross_reference: SCTID:723332005
has definition: This syndrome occurs when there is an inverted duplication of the proximal region of chromosome 15, typically including the unstable region 15q11-q13. A large duplication results in tetrasomy of 15p and partial tetrasomy of 15q. Maternal age at conception is a known risk factor. Patients usually have varying degrees of epilepsy, developmental delays, intellectual impairment, autistic spectrum disorders and minor dysmorphic features. Seizures can include epileptic spasms, and a range of other seizure types (both focal and generalized). This chromosomal abnormality is diagnosed on routine karyotype. FISH is used to confirm that the extra chromosomal material is from chromosome 15q or to establish the diagnosis in the event of an interstitial 15q duplication.
alternative_term: Duplication/inversion type 15q11
alternative_term: Inv dup(15)
alternative_term: Invdup(15)
alternative_term: Isodicentric 15 chromosome
alternative_term: duplication/inversion 15q11
alternative_term: idic(15)
alternative_term: non-distal tetrasomy 15q
alternative_term: non-telomeric tetrasomy 15q
has_related_synonym: Isodicentric chromosome 15 syndrome
has_related_synonym: chromosome 15q tetrasomy
has_related_synonym: inverted duplication 15
has_related_synonym: tetrasomy 15q
id: MONDO:0018027
in subset: gard rare
in subset: ordo malformation syndrome
from ESSO: true
from ILAE: true

Axiom
annotated source: duplication/inversion 15q11
annotated property: hasDefinition
annotated target: This syndrome occurs when there is an inverted duplication of the proximal region of chromosome 15, typically including the unstable region 15q11-q13. A large duplication results in tetrasomy of 15p and partial tetrasomy of 15q. Maternal age at conception is a known risk factor. Patients usually have varying degrees of epilepsy, developmental delays, intellectual impairment, autistic spectrum disorders and minor dysmorphic features. Seizures can include epileptic spasms, and a range of other seizure types (both focal and generalized). This chromosomal abnormality is diagnosed on routine karyotype. FISH is used to confirm that the extra chromosomal material is from chromosome 15q or to establish the diagnosis in the event of an interstitial 15q duplication.

new-onset refractory status epilepticus
type: Class
subclass of: acute encephalopathy with inflammation-mediated status epilepticus
definition: New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences.
imported from: mondo.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/31830676
database_cross_reference: GARD:0012244
database_cross_reference: ICD10:G41.8
database_cross_reference: Orphanet:363558
alternative_term: Norse
has_related_synonym: De novo cryptogenic refractory multifocal febrile status epilepticus
has_related_synonym: New onset refractory status epilepticus
id: MONDO:0018199
in subset: ordo disease
from pub med: true

acute encephalopathy with inflammation-mediated status epilepticus
type: Class
subclass of: epilepsy
subclass of: inflammatory and autoimmune disease with epilepsy
imported from: mondo.owl
database_cross_reference: Orphanet:363567
id: MONDO:0018200
in subset: ordo group of disorders

generalized epilepsy with febrile seizures plus
type: Class
subclass of: epilepsy
definition: Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms).
imported from: mondo.owl
excluded subClassOf: MONDO_0005579
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/32062735
database_cross_reference: DOID:0060170
database_cross_reference: ICD10:G40.3
database_cross_reference: MESH:C565808
database_cross_reference: NCIT:C122811
database_cross_reference: OMIMPS:604233
database_cross_reference: Orphanet:36387
database_cross_reference: SCTID:699688008
database_cross_reference: UMLS:C3502809
alternative_term: GEFS+
alternative_term: epilepsy, generalized, with febrile seizures plus
has_related_synonym: generalized epilepsy with febrile seizures-plus
id: MONDO:0018214
in subset: ordo disease
from pub med: true

paraneoplastic neurologic syndrome
type: Class
subclass of: brain disease
definition: A paraneoplastic syndrome that involves the nervous system.
imported from: mondo.owl
database_cross_reference: GARD:0007326
database_cross_reference: ICD9:331.89
database_cross_reference: MedDRA:10072106
database_cross_reference: Orphanet:36388
database_cross_reference: SCTID:192877007
alternative_term: PCD
alternative_term: PNS
alternative_term: nervous system paraneoplastic syndrome
alternative_term: paraneoplastic syndrome of nervous system
has_narrow_synonym: paraneoplastic cerebellar degeneration
id: MONDO:0018215
in subset: ordo group of disorders

chromosomal anomaly
type: Class
subclass of: genetic etiology
definition: Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
imported from: mondo.owl
database_cross_reference: DOID:0080014
database_cross_reference: ICD9:758.89
database_cross_reference: MESH:D025063
database_cross_reference: NCIT:C34470
database_cross_reference: Orphanet:68335
database_cross_reference: SCTID:409709004
alternative_term: Chromosomal Abnormality
alternative_term: chromosomal anomaly
alternative_term: chromosomal disease
has_related_synonym: autosomal chromosome disorder
has_related_synonym: autosomal chromosome disorders
has_related_synonym: chromosomal disorder
has_related_synonym: chromosomal disorders
has_related_synonym: chromosome Abnormality disorder
has_related_synonym: chromosome Abnormality disorders
has_related_synonym: chromosome disorder
has_related_synonym: chromosome disorder, autosomal
has_related_synonym: chromosome disorders, autosomal
has_related_synonym: disorder, chromosomal
has_related_synonym: disorder, chromosome
has_related_synonym: disorder, chromosome Abnormality
has_related_synonym: disorders, chromosomal
has_related_synonym: disorders, chromosome
id: MONDO:0019040
in subset: ordo group of disorders
from ILAE: true

inborn errors of metabolism
type: Class
subclass of: disease of metabolism
definition: A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body. The inborn errors of metabolism are typically rare, but this class also encompasses non-rare diseases like hereditary hemochromatosis type 1
imported from: mondo.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28671587
database_cross_reference: DOID:655
database_cross_reference: MESH:D008661
database_cross_reference: MedDRA:10058097
database_cross_reference: MedDRA:10062018
database_cross_reference: NCIT:C34816
database_cross_reference: Orphanet:68367
database_cross_reference: SCTID:86095007
database_cross_reference: UMLS:C0025521
alternative_term: congenital metabolic disorder
alternative_term: congenital metabolism disorder
alternative_term: hereditary metabolic disease
alternative_term: inborn error of metabolism
alternative_term: inborn errors of metabolism
alternative_term: inborn metabolism disorder
alternative_term: inherited metabolic disorder
alternative_term: metabolic hereditary disorder
has_narrow_synonym: rare inborn errors of metabolism
has_narrow_synonym: rare inherited metabolic disorder
has_related_synonym: rare metabolic disease
id: MONDO:0019052
in subset: ordo group of disorders
from pub med: true

Sandifer syndrome
type: Class
subclass of: Miscellaneous
definition: Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia.
imported from: mondo.owl
database_cross_reference: GARD:0009684
database_cross_reference: MESH:C537234
database_cross_reference: MedDRA:10066142
database_cross_reference: NCIT:C113397
database_cross_reference: Orphanet:71272
database_cross_reference: SCTID:230314007
database_cross_reference: UMLS:C0338465
has definition: This syndrome is seen in young children with gastro-oesophageal reflux (with or without vomiting). Events are often seen with or after feeding. Typically there is arching of the back, dystonic posturing of the limbs and turning/tilting of the head. The events may be frequent. The arching of the back and the trigger of events during or after feeding are key features that distinguish this disorder from epileptic seizures. Early treatment of the gastro-oesophageal reflux results in resolution of symptoms.
has_related_synonym: Sandifer's syndrome
id: MONDO:0019104
in subset: gard rare
in subset: ordo disease
from ILAE: true

Axiom
annotated source: Sandifer syndrome
annotated property: hasDefinition
annotated target: This syndrome is seen in young children with gastro-oesophageal reflux (with or without vomiting). Events are often seen with or after feeding. Typically there is arching of the back, dystonic posturing of the limbs and turning/tilting of the head. The events may be frequent. The arching of the back and the trigger of events during or after feeding are key features that distinguish this disorder from epileptic seizures. Early treatment of the gastro-oesophageal reflux results in resolution of symptoms.

benign paroxysmal torticollis of infancy
type: Class
subclass of: migraine associated disorder
definition: Benign paroxysmal torticollis of infancy (BPTI) is a rare functional disorder characterised by recurrent episodes of torticollic posturing of the head (inclination or tilting of the head to one side) in healthy children.
imported from: mondo.owl
database_cross_reference: ICD10:G24.3
database_cross_reference: Orphanet:71518
database_cross_reference: SCTID:719521002
database_cross_reference: UMLS:CN205631
has definition: Benign paroxysmal torticollis is considered a migraine variant of infancy and early childhood. Attacks of retro-, lateral or torticollis may last minutes to hours. The infant may have associated pallor, vomiting and appear distressed. Older children may have ataxia. In later childhood affected individuals may develop migraine. Rare cases have been associated with mutations in the CACNA1A gene.
alternative_term: BPTI
alternative_term: Benign paroxysmal torticollis
id: MONDO:0019113
in subset: ordo disease
from ILAE: true

Axiom
annotated source: benign paroxysmal torticollis of infancy
annotated property: hasDefinition
annotated target: Benign paroxysmal torticollis is considered a migraine variant of infancy and early childhood. Attacks of retro-, lateral or torticollis may last minutes to hours. The infant may have associated pallor, vomiting and appear distressed. Older children may have ataxia. In later childhood affected individuals may develop migraine. Rare cases have been associated with mutations in the CACNA1A gene.

non-24-hour sleep-wake syndrome
type: Class
subclass of: circadian rhythm sleep disorder
definition: Non-24-hour sleep-wake disorder (non-24 disorder), also known as hypernychthemeral syndrome, is a circadian rhythm sleep disorder characterized by non-synchronization to a 24-hour day leading to insomnia and daytime sleepiness with sometimes severe associated manifestations.
imported from: mondo.owl
database_cross_reference: GARD:0010949
database_cross_reference: ICD10:G47.2
database_cross_reference: ICD10:G47.24
database_cross_reference: Orphanet:73267
database_cross_reference: SCTID:230496009
alternative_term: circadian rhythm sleep disorder, free running type
alternative_term: circadian rhythm sleep disorder, free-running type
alternative_term: hypernychthemeral syndrome
alternative_term: non-24
has_related_synonym: non 24 hour sleep wake disorder
id: MONDO:0019137
in subset: ordo disease

folinic acid-responsive seizures
type: Class
subclass of: metabolic etiology
definition: Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid.
imported from: mondo.owl
database_cross_reference: ICD10:G40.3
database_cross_reference: Orphanet:79097
database_cross_reference: SCTID:717276003
database_cross_reference: UMLS:CN205780
has definition: This metabolic disorder is an allelic condition to pyridoxine dependent epilepsy with similar biochemical markers. Individuals may have a partial pyridoxine response, then may require co-therapy with folinic acid. Research is underway into the mechanism for folinic acid response. In CSF studies of biogenic amines, an unknown peak (peak X) is seen.
alternative_term: Folinic acid responsive seizures
id: MONDO:0019197
in subset: ordo disease
comment: Editor note: TODO request from CHEBI
from ILAE: true

Axiom
annotated source: folinic acid-responsive seizures
annotated property: hasDefinition
annotated target: This metabolic disorder is an allelic condition to pyridoxine dependent epilepsy with similar biochemical markers. Individuals may have a partial pyridoxine response, then may require co-therapy with folinic acid. Research is underway into the mechanism for folinic acid response. In CSF studies of biogenic amines, an unknown peak (peak X) is seen.

steroid-responsive encephalopathy associated with autoimmune thyroiditis
type: Class
subclass of: antibody mediated epilepsy
imported from: mondo.owl
excluded subClassOf: MONDO_0016593
has_broad_synonym: steroid-responsive encephalopathy associated with thyroid disease
database_cross_reference: GARD:0008570
database_cross_reference: ICD10:G04.8
database_cross_reference: MESH:C535841
database_cross_reference: Orphanet:83601
database_cross_reference: UMLS:C0393639
alternative_term: SREAT
has_related_synonym: Hashimoto encephalitis
has_related_synonym: Hashimoto's encephalitis
has_related_synonym: Hashimoto's encephalopathy
id: MONDO:0019385
in subset: ordo disease
comment: Editor note: TODO DP for chebi roles

idiopathic hemiconvulsion-hemiplegia syndrome
type: Class
subclass of: syndrome
subclass of: acute encephalopathy with inflammation-mediated status epilepticus
imported from: mondo.owl
database_cross_reference: ICD10:G40.4
database_cross_reference: Orphanet:86908
database_cross_reference: SCTID:230407006
alternative_term: HHE syndrome
alternative_term: IHHS
alternative_term: hemiconvulsion-hemiplegia-epilepsy syndrome
id: MONDO:0019485
in subset: ordo disease
from article: true

myoclonic epilepsy of infancy
type: Class
subclass of: neonatal/infantile epilepsy syndrome
imported from: mondo.owl
database_cross_reference: ICD10:G40.3
database_cross_reference: Orphanet:86909
database_cross_reference: UMLS:CN206266
has definition: This epilepsy syndrome is uncommon. Myoclonic seizures are the only seizure type seen at onset, although infrequent febrile seizures may also occur. Myoclonic seizures may be activated by photic stimulation in some patients, others may have myoclonic seizures that are induced by sudden noise or touch. Cognitive, behavioral and motor difficulties may exist. Seizures are self-limiting, ceasing within 6 months to 5 years from onset. Generalized tonic-clonic seizures may be seen in later life.
alternative_term: benign myoclonic epilepsy of infancy
alternative_term: benign myoclonus epilepsy of infancy
id: MONDO:0019486
in subset: ordo disease
from ILAE: true

Axiom
annotated source: myoclonic epilepsy of infancy
annotated property: hasDefinition
annotated target: This epilepsy syndrome is uncommon. Myoclonic seizures are the only seizure type seen at onset, although infrequent febrile seizures may also occur. Myoclonic seizures may be activated by photic stimulation in some patients, others may have myoclonic seizures that are induced by sudden noise or touch. Cognitive, behavioral and motor difficulties may exist. Seizures are self-limiting, ceasing within 6 months to 5 years from onset. Generalized tonic-clonic seizures may be seen in later life.

epilepsy with myoclonic absences
type: Class
subclass of: childhood-onset epilepsy syndrome
imported from: mondo.owl
database_cross_reference: ICD10:G40.4
database_cross_reference: Orphanet:86911
database_cross_reference: SCTID:230422001
has definition: Epilepsy with myoclonic absences should be considered in a child who presents with frequent daily myoclonic absence seizures. At presentation approximately half the children are developmentally and neurologically normal, learning disability is eventually seen in 70% of cases. Other seizure types (generalized tonic-clonic and atonic seizures) occur in the majority of patients. Prognosis is more favorable if myoclonic absence seizures are controlled.
alternative_term: Tassinari syndrome
id: MONDO:0019487
in subset: ordo disease
from ILAE: true

Axiom
annotated source: epilepsy with myoclonic absences
annotated property: hasDefinition
annotated target: Epilepsy with myoclonic absences should be considered in a child who presents with frequent daily myoclonic absence seizures. At presentation approximately half the children are developmentally and neurologically normal, learning disability is eventually seen in 70% of cases. Other seizure types (generalized tonic-clonic and atonic seizures) occur in the majority of patients. Prognosis is more favorable if myoclonic absence seizures are controlled.

infectious encephalitis
type: Class
subclass of: encephalitis
definition: An acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi.
imported from: mondo.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26592968
database_cross_reference: ICD9:049.8
database_cross_reference: ICD9:323.4
database_cross_reference: MESH:D000069544
database_cross_reference: NCIT:C79550
database_cross_reference: SCTID:312215006
alternative_term: encephalitis infection
id: MONDO:0020067
in subset: ordo group of disorders
from pub med: true

neonatal epilepsy syndrome
type: Class
subclass of: syndrome
imported from: mondo.owl
database_cross_reference: ICD10:G40.4
database_cross_reference: Orphanet:98257
database_cross_reference: UMLS:CN206974
id: MONDO:0020070
in subset: ordo group of disorders

infantile epilepsy syndrome
type: Class
subclass of: syndrome
definition: A epilepsy syndrome that occurs between 28 days to one year of life..
imported from: mondo.owl
database_cross_reference: ICD10:G40.4
database_cross_reference: Orphanet:98258
database_cross_reference: UMLS:CN206975
alternative_term: epilepsy syndrome of infancy
alternative_term: infantile onset epilepsy syndrome
id: MONDO:0020071
in subset: ordo group of disorders

childhood-onset epilepsy syndrome
type: Class
subclass of: epilepsy syndrome
definition: A epilepsy syndrome that occurs during childhood.
imported from: mondo.owl
database_cross_reference: ICD10:G40.4
database_cross_reference: Orphanet:98259
database_cross_reference: UMLS:CN206976
alternative_term: childhood epilepsy syndrome
alternative_term: epilepsy syndrome of childhood
alternative_term: pediatric epilepsy syndrome
has_related_synonym: pediatric epilepsy syndrome
id: MONDO:0020072
in subset: ordo group of disorders
from ILAE: true

benign childhood occipital epilepsy, Gastaut type
type: Class
subclass of: childhood-onset epilepsy syndrome
definition: Benign childhood occipital epilepsy, Gastaut type is a rare, genetic neurological disorder characterized by childhood to mid-adolescence onset of frequent, brief, diurnal simple partial seizures which usually begin with visual hallucinations (e.g. phosphenes) and/or ictal blindness and may associate non visual seizures (such as deviation of the eyes, oculoclonic seizures), forced eyelid closure and blinking and sensory hallucinations. Post-ictal headache is common while impairment of consciousness is rare.
imported from: mondo.owl
database_cross_reference: ICD10:G40.0
database_cross_reference: Orphanet:98816
database_cross_reference: UMLS:CN207128
has definition: Childhood occipital epilepsy (Gastaut-type) is a self-limiting childhood epilepsy with onset in later childhood. Seizures are usually easily controlled and remission of seizures occurs within 2-4 years from onset.
alternative_term: late-onset benign childhood occipital epilepsy
id: MONDO:0020308
in subset: ordo clinical subtype
from ILAE: true

Axiom
annotated source: benign childhood occipital epilepsy, Gastaut type
annotated property: hasDefinition
annotated target: Childhood occipital epilepsy (Gastaut-type) is a self-limiting childhood epilepsy with onset in later childhood. Seizures are usually easily controlled and remission of seizures occurs within 2-4 years from onset.

familial focal epilepsy with variable foci
type: Class
subclass of: variable age onset epilepsy
definition: Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described.
imported from: mondo.owl
database_cross_reference: GARD:0013295
database_cross_reference: Orphanet:98820
database_cross_reference: SCTID:764522009
database_cross_reference: UMLS:CN207131
has definition: This is a hereditary epilepsy, with focal seizures arising in different focal regions in different family members but with each individual in a family having a single focal seizure type. There are no implications expected for development or learning and seizures are typically infrequent and well controlled.
alternative_term: FFEVF
alternative_term: familial partial epilepsy with variable foci
id: MONDO:0020310
in subset: ordo disease
from ILAE: true

Axiom
annotated source: familial focal epilepsy with variable foci
annotated property: hasDefinition
annotated target: This is a hereditary epilepsy, with focal seizures arising in different focal regions in different family members but with each individual in a family having a single focal seizure type. There are no implications expected for development or learning and seizures are typically infrequent and well controlled.

mesial temporal lobe epilepsy with hippocampal sclerosis
type: Class
subclass of: epilepsy
definition: Mesial temporal lobe epilepsy with hippocampal sclerosis is a rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or assymetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits.
imported from: mondo.owl
database_cross_reference: Orphanet:99701
alternative_term: MTLE-HS
id: MONDO:0020476
in subset: ordo disease
from EPILONT: true

glioma
type: Class
subclass of: neuroepithelial neoplasm
definition: A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas.
imported from: mondo.owl
database_cross_reference: GARD:0006513
database_cross_reference: MESH:D005910
database_cross_reference: NCIT:C3059
database_cross_reference: SCTID:393564001
database_cross_reference: UMLS:C0017638
alternative_term: glial neoplasm
alternative_term: glial tumor
alternative_term: glioma
alternative_term: neoplasm of neuroglia
alternative_term: neoplasm of the neuroglia
alternative_term: neuroglial neoplasm
alternative_term: neuroglial tumor
alternative_term: tumor of neuroglia
alternative_term: tumor of the neuroglia
id: MONDO:0021042

anti-NMDA receptor encephalitis
type: Class
subclass of: antibody mediated epilepsy
definition: An autoimmune acute encephalitis caused by antibodies against the glutamate NMDA receptor. It usually affects females and in the majority of cases it is associated with the presence of a tumor, most commonly an ovarian teratoma. The presence of a tumor in patients with this form of encephalitis implies that the latter is a paraneoplastic syndrome. It is manifested with psychiatric symptoms and epileptic seizures. It is a potentially lethal disorder; however, it is usually reversible with the prompt removal of the tumor.
imported from: mondo.owl
database_cross_reference: MESH:D060426
database_cross_reference: NCIT:C94853
has definition: Antibodies are directed against the NR1 subunit of the NMDA receptor. Clinical manifestations typically include: A prodrome, this may last several weeks, symptoms include fever, headache, nausea, vomiting and diarrhea , A symptomatic phase, symptoms may include all of the following: Psychiatric and behavioral symptoms: anxiety, bizarre behavior, delirium, paranoia , Insomnia or hypersomnia, Altered level of consciousness Seizures (focal or generalized) , Movement disorders: oral-motor dyskinesias, choreiform movements , Hypoventilation, Autonomic instability: incontinence, tachycardia, hypertension, hyperthermia
alternative_term: anti-NMDA receptor encephalitis
id: MONDO:0021081
from ILAE: true

Axiom
annotated source: anti-NMDA receptor encephalitis
annotated property: hasDefinition
annotated target: Antibodies are directed against the NR1 subunit of the NMDA receptor. Clinical manifestations typically include: A prodrome, this may last several weeks, symptoms include fever, headache, nausea, vomiting and diarrhea , A symptomatic phase, symptoms may include all of the following: Psychiatric and behavioral symptoms: anxiety, bizarre behavior, delirium, paranoia , Insomnia or hypersomnia, Altered level of consciousness Seizures (focal or generalized) , Movement disorders: oral-motor dyskinesias, choreiform movements , Hypoventilation, Autonomic instability: incontinence, tachycardia, hypertension, hyperthermia

neuroepithelial neoplasm
type: Class
subclass of: nervous system neoplasm
definition: A neoplasm of the nervous system that arises from the neuroepithelial tissues. Representative examples include astrocytic tumors, oligodendroglial tumors, ependymal tumors, and primitive neuroectodermal tumors.
imported from: mondo.owl
database_cross_reference: MESH:D018302
database_cross_reference: NCIT:C3787
database_cross_reference: ONCOTREE:PRNET
alternative_term: neoplasm of neuroepithelial tissue
alternative_term: neoplasm of neuroepithelium
alternative_term: neoplasm of the neuroepithelium
alternative_term: neuroepithelial neoplasm
alternative_term: neuroepithelial neoplasms
alternative_term: neuroepithelial tissue neoplasm
alternative_term: neuroepithelial tissue tumor
alternative_term: neuroepithelial tumor
alternative_term: neuroepithelial tumors
alternative_term: tumor of neuroepithelial tissue
alternative_term: tumor of neuroepithelium
alternative_term: tumor of the neuroepithelium
has_related_synonym: primary neuroepithelial tumor
id: MONDO:0021193
comment: Editor note consider adding grouping class for Neuroepithelial, Perineurial, and Schwann Cell Neoplasm

nervous system neoplasm
type: Class
subclass of: neoplasm (disease)
definition: A neoplasm (disease) that involves the nervous system.
imported from: mondo.owl
database_cross_reference: COHD:444200
database_cross_reference: NCIT:C3268
alternative_term: neoplasm of nervous system
alternative_term: neoplasm of the nervous system
alternative_term: nervous system neoplasm (disease)
alternative_term: nervous system neoplasms
alternative_term: nervous system tumor
alternative_term: nervous system tumour
alternative_term: tumor of nervous system
alternative_term: tumor of the nervous system
id: MONDO:0021248

low grade glioma
type: Class
subclass of: glioma
definition: A grade I or grade II glioma arising from the central nervous system. This category includes pilocytic astrocytoma, diffuse astrocytoma, subependymal giant cell astrocytoma, ependymoma, oligodendroglioma, oligoastrocytoma, and angiocentric glioma.
imported from: mondo.owl
database_cross_reference: NCIT:C132067
database_cross_reference: UMLS:C1997217
alternative_term: low grade glioma
alternative_term: low-grade glioma
id: MONDO:0021637

low grade astrocytic tumor
type: Class
subclass of: low grade glioma
definition: A grade I or grade II astrocytic tumor. This category includes pilocytic astrocytoma (grade I), subependymal giant cell astrocytoma (grade I), and diffuse astrocytoma (grade II).
imported from: mondo.owl
database_cross_reference: NCIT:C116342
database_cross_reference: UMLS:C3898569
alternative_term: low grade astrocytic neoplasm
alternative_term: low grade astrocytic tumor
alternative_term: low-grade astrocytic neoplasm
alternative_term: low-grade astrocytic tumor
id: MONDO:0021638

grade II glioma
type: Class
subclass of: low grade glioma
definition: A glioma arising from the central nervous system. This category includes diffuse astrocytoma, ependymoma, oligodendroglioma, and oligoastrocytoma.
imported from: mondo.owl
database_cross_reference: NCIT:C132505
database_cross_reference: UMLS:C4330050
alternative_term: WHO grade II glioma
alternative_term: grade II glioma
id: MONDO:0021639

neoplastic disease or syndrome
type: Class
subclass of: disease of cellular proliferation
definition: Either an isolated neoplasm or a syndrome with neoplasm as a major feature.
imported from: mondo.owl
has_related_synonym: neoplastic disease
has_related_synonym: neoplastic disorder
id: MONDO:0023370

vascular malformation
type: Class
subclass of: structural etiology
definition: A non-neoplastic disorder that is the result of defects of vascular morphogenesis.
imported from: mondo.owl
database_cross_reference: MESH:D054079
has definition: Cerebral vascular malformations are a heterogeneous group of disorders that may be associated with epilepsy.
alternative_term: vascular malformation
has_related_synonym: malformation, vascular
has_related_synonym: malformations, vascular
id: MONDO:0024291
comment: The majority are present at birth. Some can be acquired.
from ILAE: true

Axiom
annotated source: vascular malformation
annotated property: hasDefinition
annotated target: Cerebral vascular malformations are a heterogeneous group of disorders that may be associated with epilepsy.

circadian rhythm sleep disorder
type: Class
subclass of: sleeping behavior phenotype
definition: A persistent or recurrent pattern of sleep disruption that is primarily due to an alteration of the circadian system or to a misalignment between the endogenous circadian rhythm and the sleep-wake schedule required by an individual's physical environment or social or professional schedule.(DSM IV)
imported from: mondo.owl
database_cross_reference: ICD10:G47.2
database_cross_reference: ICD9:327.30
database_cross_reference: NCIT:C95071
database_cross_reference: SCTID:3745000
alternative_term: circadian sleep disorder
alternative_term: disorders of the sleep-wake schedule
alternative_term: sleep-wake schedule disorder
id: MONDO:0024361

perceptual disorders
type: Class
subclass of: nervous system disease
definition: Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body.
imported from: mondo.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/6955943
database_cross_reference: MESH:D010468
has_related_synonym: perceptual disturbances
id: MONDO:0024417
from pub med: true

Alice in wonderland syndrome
type: Class
subclass of: eye disease
definition: A disorienting neuropsychological condition that affects perception. People experience size distortion such as micropsia, macropsia, pelopsia, or teleopsia. Size distortion may occur of other sensory modalities.
imported from: mondo.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28116304
database_cross_reference: MESH:D062026
database_cross_reference: NCIT:C116362
has_related_synonym: Teleopsia
id: MONDO:0024429
from pub med: true

secondary neoplasm
type: Class
subclass of: neoplastic disease or syndrome
definition: A neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment.
imported from: mondo.owl
database_cross_reference: NCIT:C36255
alternative_term: secondary neoplasm
alternative_term: secondary tumor
id: MONDO:0024882
comment: Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future.

metastatic neoplasm
type: Class
subclass of: secondary neoplasm
definition: A tumor that has spread from its original (primary) site of growth to another site, close to or distant from the primary site. Metastasis is characteristic of advanced malignancies, but in rare instances can be seen in neoplasms lacking malignant morphology.
imported from: mondo.owl
database_cross_reference: ICDO:8000/6
database_cross_reference: NCIT:C3261
alternative_term: Metastatic Tumor
alternative_term: metastatic disease
alternative_term: metastatic neoplasm
alternative_term: metastatic tumor
id: MONDO:0024883
comment: Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future.

neurocutaneous syndrome
type: Class
subclass of: nervous system disease
definition: A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.
imported from: mondo.owl
excluded subClassOf: MONDO_0019287
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/8500435
database_cross_reference: MESH:D020752
database_cross_reference: NCIT:C84348
database_cross_reference: SCTID:78572006
database_cross_reference: UMLS:C0265316
alternative_term: neurocutaneous syndrome
has_related_synonym: Phacomatoses
has_related_synonym: Phacomatosis
has_related_synonym: Phakomatoses
has_related_synonym: neurocutaneous disorder
has_related_synonym: neurocutaneous disorders
has_related_synonym: neuroectodermal dysplasia
has_related_synonym: neuroectodermal dysplasia syndrome
has_related_synonym: neuroectodermal dysplasia syndromes
has_related_synonym: phakomatosis
has_related_synonym: syndrome, neurocutaneous
has_related_synonym: syndrome, neuroectodermal dysplasia
has_related_synonym: syndromes, neurocutaneous
has_related_synonym: syndromes, neuroectodermal dysplasia
id: MONDO:0042983
comment: A number of genetic and acquired diseases come in this category and may affect one or more of these tissues. However, in some conditions, such as von Hippel-Lindau disease, ectodermal presentation is minimal. Editor note: Phakomatoses are inconsistently defined, and there is a lack of consensus about what conditions are included in this category
from pub med: true

post-traumatic epilepsy
type: Class
subclass of: epilepsy
definition: Recurrent seizures causally related to CRANIOCEREBRAL TRAUMA. Seizure onset may be immediate but is typically delayed for several days after the injury and may not occur for up to two years. The majority of seizures have a focal onset that correlates clinically with the site of brain injury. Cerebral cortex injuries caused by a penetrating foreign object (CRANIOCEREBRAL TRAUMA, PENETRATING) are more likely than closed head injuries (HEAD INJURIES, CLOSED) to be associated with epilepsy. Concussive convulsions are nonepileptic phenomena that occur immediately after head injury and are characterized by tonic and clonic movements. (From Rev Neurol 1998 Feb;26(150):256-261; Sports Med 1998 Feb;25(2):131-6)
imported from: mondo.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/24761136
database_cross_reference: GARD:0007437
database_cross_reference: MESH:D004834
database_cross_reference: SCTID:75023009
database_cross_reference: UMLS:C0751126
alternative_term: post-traumatic epilepsy
has_related_synonym: Epilepsies, post-traumatic
has_related_synonym: Epilepsies, traumatic
has_related_synonym: PTE - post-traumatic epilepsy
has_related_synonym: concussive convulsion
has_related_synonym: concussive convulsions
has_related_synonym: convulsion, concussive
has_related_synonym: convulsions, concussive
has_related_synonym: disorder, post-traumatic seizure
has_related_synonym: disorders, post-traumatic seizure
has_related_synonym: early post traumatic seizures
has_related_synonym: early post-traumatic seizure
has_related_synonym: early post-traumatic seizures
has_related_synonym: epilepsy, post traumatic
has_related_synonym: epilepsy, traumatic
has_related_synonym: impact seizure
has_related_synonym: impact seizures
has_related_synonym: late post traumatic seizures
has_related_synonym: late post-traumatic seizure
has_related_synonym: late post-traumatic seizures
has_related_synonym: post traumatic seizure disorder
has_related_synonym: post-traumatic Epilepsies
has_related_synonym: post-traumatic seizure disorder
has_related_synonym: post-traumatic seizure disorders
has_related_synonym: post-traumatic seizure, early
has_related_synonym: post-traumatic seizure, late
has_related_synonym: post-traumatic seizures, early
has_related_synonym: post-traumatic seizures, late
has_related_synonym: seizure disorder, post traumatic
has_related_synonym: seizure disorder, post-traumatic
has_related_synonym: seizure disorders, post-traumatic
has_related_synonym: seizure, early post-traumatic
has_related_synonym: seizure, late post-traumatic
has_related_synonym: seizures, early post-traumatic
has_related_synonym: seizures, late post-traumatic
has_related_synonym: traumatic Epilepsies
has_related_synonym: traumatic epilepsy
id: MONDO:0043264
in subset: gard rare
from pub med: true

cerebrospinal fluid leak
type: Class
subclass of: central nervous system disease
definition: Discharge of cerebrospinal fluid through a hole through the skull bone most commonly draining from the nose (CEREBROSPINAL FLUID RHINORRHEA) or the ear (CEREBROSPINAL FLUID OTORRHEA).
imported from: mondo.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/23551133
database_cross_reference: GARD:0010166
database_cross_reference: MESH:D065634
database_cross_reference: SCTID:230744007
alternative_term: cerebrospinal fluid leak
has_related_synonym: CSF leak
has_related_synonym: CSF otorrhea
has_related_synonym: CSF rhinorrhea
has_related_synonym: Drainages, cerebrospinal fluid
has_related_synonym: Leakages, cerebrospinal fluid
has_related_synonym: Leaks, cerebrospinal fluid
has_related_synonym: cerebrospinal fluid Drainages
has_related_synonym: cerebrospinal fluid Leakages
has_related_synonym: cerebrospinal fluid Leaks
has_related_synonym: cerebrospinal fluid drainage
has_related_synonym: cerebrospinal fluid drainage, post traumatic
has_related_synonym: cerebrospinal fluid drainage, post-traumatic
has_related_synonym: cerebrospinal fluid drainage, spontaneous
has_related_synonym: cerebrospinal fluid drainage, traumatic
has_related_synonym: cerebrospinal fluid leak, post traumatic
has_related_synonym: cerebrospinal fluid leak, post-traumatic
has_related_synonym: cerebrospinal fluid leak, spontaneous
has_related_synonym: cerebrospinal fluid leak, traumatic
has_related_synonym: cerebrospinal fluid leakage
has_related_synonym: cerebrospinal fluid leakage, post traumatic
has_related_synonym: cerebrospinal fluid leakage, post-traumatic
has_related_synonym: cerebrospinal fluid leakage, spontaneous
has_related_synonym: cerebrospinal fluid leakage, traumatic
has_related_synonym: csf - cerebrospinal fluid leak
has_related_synonym: drainage, cerebrospinal fluid
has_related_synonym: fluid Drainages, cerebrospinal
has_related_synonym: fluid Leakages, cerebrospinal
has_related_synonym: fluid Leaks, cerebrospinal
has_related_synonym: fluid drainage, cerebrospinal
has_related_synonym: fluid leak, cerebrospinal
has_related_synonym: fluid leakage, cerebrospinal
has_related_synonym: leak, cerebrospinal fluid
has_related_synonym: leakage, cerebrospinal fluid
has_related_synonym: spinal CSF leak
has_related_synonym: spinal cerebrospinal fluid leak
has_related_synonym: spinal cerebrospinal fluid leak, post traumatic
has_related_synonym: spinal cerebrospinal fluid leak, post-traumatic
has_related_synonym: spinal cerebrospinal fluid leak, spontaneous
has_related_synonym: spinal cerebrospinal fluid leak, traumatic
id: MONDO:0043327
in subset: gard rare
from pub med: true

brain injury
type: Class
subclass of: injury
definition: Acute and chronic (see also brain INJURIES, CHRONIC) injuries to the brain, including the cerebral hemispheres, CEREBELLUM, and brain STEM. Clinical manifestations depend on the nature of injury. Diffuse trauma to the brain is frequently associated with DIFFUSE AXONAL INJURY or COMA, POST-TRAUMATIC. Localized injuries may be associated with NEUROBEHAVIORAL MANIFESTATIONS; HEMIPARESIS, or other focal neurologic deficits.
imported from: mondo.owl
database_cross_reference: MESH:D001930
alternative_term: brain injury
alternative_term: injury of brain
has_related_synonym: brain Traumas
has_related_synonym: brain trauma
id: MONDO:0043510
from article: true

mitochondrial disease
type: Class
subclass of: metabolic etiology
imported from: mondo.owl
has definition: Mitochondrial diseases (MIDs) are a large group of heterogeneous disorders due to mutations in either mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) genes, the latter encoding proteins involved in mitochondrial function.
id: MONDO:0044970
from ILAE: true

Axiom
annotated source: mitochondrial disease
annotated property: hasDefinition
annotated target: Mitochondrial diseases (MIDs) are a large group of heterogeneous disorders due to mutations in either mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) genes, the latter encoding proteins involved in mitochondrial function.

atypical childhood epilepsy with centrotemporal spikes
type: Class
subclass of: childhood-onset epilepsy syndrome
definition: A childhood-onset epilepsy that is characterized by frequent seizures of multiple types, including nocturnal focal motor and fronto-parietal opercular seizures, and daytime focal motor seizures with negative myoclonus and atypical absence seizures. Centrotemporal sharp waves are seen on EEG. During the phase of the epilepsy when seizures are frequent, neuropsychological deficits and motor impairment may be present. These deficits improve when seizures remit.
imported from: mondo.owl
creator: http://orcid.org/0000-0001-5208-3432
date: 2018-06-22T22:43:29Z
has definition: Atypical childhood epilepsy with centrotemporal spikes (previously known as pseudo-Lennox syndrome, atypical benign partial epilepsy of childhood and atonic-benign childhood epilepsy with centrotemporal spikes) is recognized as an atypical evolution of childhood epilepsy with centrotemporal spikes. This syndrome is self-limiting, but characterized by frequent seizures of multiple types, including nocturnal focal motor and fronto-parietal opercular seizures, and daytime focal motor seizures with negative myoclonus and atypical absence seizures. Centrotemporal sharp waves are seen on EEG. During the phase of the epilepsy when seizures are frequent, neuropsychological deficits and motor impairment may be present. These deficits improve when seizures remit.
alternative_term: atonic-benign childhood epilepsy with centrotemporal spikes
alternative_term: atypical benign partial epilepsy of childhood
alternative_term: pseudo-Lennox syndrome
id: MONDO:0100020
from ILAE: true

Axiom
annotated source: atypical childhood epilepsy with centrotemporal spikes
annotated property: hasDefinition
annotated target: Atypical childhood epilepsy with centrotemporal spikes (previously known as pseudo-Lennox syndrome, atypical benign partial epilepsy of childhood and atonic-benign childhood epilepsy with centrotemporal spikes) is recognized as an atypical evolution of childhood epilepsy with centrotemporal spikes. This syndrome is self-limiting, but characterized by frequent seizures of multiple types, including nocturnal focal motor and fronto-parietal opercular seizures, and daytime focal motor seizures with negative myoclonus and atypical absence seizures. Centrotemporal sharp waves are seen on EEG. During the phase of the epilepsy when seizures are frequent, neuropsychological deficits and motor impairment may be present. These deficits improve when seizures remit.

photosensitive occipital lobe epilepsy
type: Class
subclass of: childhood-onset epilepsy syndrome
definition: A childhood-onset epilepsy that is characterized by the presence of visually-induced focal occipital lobe seizures. A proportion of patients with this syndrome have developmental delays and learning difficulty.
imported from: mondo.owl
creator: http://orcid.org/0000-0001-5208-3432
date: 2018-06-22T22:48:33Z
has definition: This epilepsy syndrome has onset in childhood and is characterized by the presence of visually-induced focal occipital lobe seizures. A proportion of patients with this syndrome have developmental delays and learning difficulty.
id: MONDO:0100021
from ILAE: true

Axiom
annotated source: photosensitive occipital lobe epilepsy
annotated property: hasDefinition
annotated target: This epilepsy syndrome has onset in childhood and is characterized by the presence of visually-induced focal occipital lobe seizures. A proportion of patients with this syndrome have developmental delays and learning difficulty.

neonatal/infantile epilepsy syndrome
type: Class
subclass of: epilepsy syndrome
definition: An epilepsy sydrome that has an onset during the neonatal or infantile stage of life.
imported from: mondo.owl
creator: http://orcid.org/0000-0001-5208-3432
date: 2018-06-22T23:34:03Z
database_cross_reference: http://orcid.org/0000-0001-8486-0558
id: MONDO:0100022

epilepsy of infancy with migrating focal seizures
type: Class
subclass of: neonatal/infantile epilepsy syndrome
definition: This syndrome is characterized by onset of refractory focal seizures in the first year of life, with associated severe encephalopathy. Focal seizures arise independently in both hemispheres and can migrate from one cortical region to another randomly but consecutively in the same seizure. Seizures are often prolonged with episodes of status epilepticus. Prognosis is poor with severe neurological disability and reduced life expectancy, although a milder evolution has been reported in a few children.
imported from: mondo.owl
creator: http://orcid.org/0000-0001-5208-3432
date: 2018-06-22T23:54:03Z
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/32038177
database_cross_reference: SCTID:733195008
database_cross_reference: UMLS:C4518639
id: MONDO:0100025
from pub med: true

myoclonic encephalopathy in non-progressive disorder
type: Class
subclass of: neonatal/infantile epilepsy syndrome
definition: This group of epilepsies are typically is characterized by onset of seizures from day 1 of life to 5 years (peak 12 months). Both sexes are affected, however the male to female ratio is 1:2. Antecedent (including birth) history, head size, neurological and developmental findings reflect the underlying cause (if known). Myoclonic status epilepticus is often the initial presenting seizure type, however other initial seizure types may also occur. Prognosis is unfavorable with severe neurological and developmental impairments typically seen.
imported from: mondo.owl
creator: http://orcid.org/0000-0001-5208-3432
date: 2018-06-22T23:56:39Z
has definition: This group of epilepsies are characterized by repeated episodes of myoclonic status epilepticus that occur over prolonged periods (days). The majority of patients have an underlying chromosomal disorder, others have developmental or acquired structural brain abnormalities. The cause is unknown in one fifth of cases.
id: MONDO:0100026
from ILAE: true

Axiom
annotated source: myoclonic encephalopathy in non-progressive disorder
annotated property: hasDefinition
annotated target: This group of epilepsies are characterized by repeated episodes of myoclonic status epilepticus that occur over prolonged periods (days). The majority of patients have an underlying chromosomal disorder, others have developmental or acquired structural brain abnormalities. The cause is unknown in one fifth of cases.

febrile seizures plus, genetic epilepsy with febrile seizures plus
type: Class
subclass of: neonatal/infantile epilepsy syndrome
definition: These epilepsy syndromes are characterized by the presence of febrile seizures in an individual that may continue past the usual age where these are expected to resolve and/or be accompanied by afebrile seizures that may be generalized seizures (tonic-clonic, atonic, myoclonic, myoclonic-atonic or absence) or focal seizures. Febrile seizures plus and genetic epilepsy with febrile seizures plus are distinguished on the basis of family history. A number of dominantly inherited genes have been linked to these syndromes, with implications for specific genetic counseling, due to the variable severity of the resulting epilepsy in different family members.
imported from: mondo.owl
creator: http://orcid.org/0000-0001-5208-3432
date: 2018-06-22T23:58:47Z
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/25917466
id: MONDO:0100027
from pub med: true

antibody mediated epilepsy
type: Class
subclass of: immune etiology
definition: An immune epilepsy where the underlying cause is antibody mediated.
imported from: mondo.owl
creator: http://orcid.org/0000-0001-5208-3432
date: 2018-06-23T00:52:42Z
has_related_synonym: Antibody mediated etiologies
id: MONDO:0100029
from ILAE: true

adolescent/adult-onset epilepsy syndrome
type: Class
subclass of: epilepsy syndrome
definition: An epilepsy syndrome that has an onset during the adolescent or adult stage of life.
imported from: mondo.owl
creator: http://orcid.org/0000-0001-5208-3432
date: 2018-06-23T01:43:18Z
database_cross_reference: http://orcid.org/0000-0001-8486-0558
id: MONDO:0100030
from ILAE: true

autosomal dominant epilepsy with auditory features
type: Class
subclass of: adolescent/adult-onset epilepsy syndrome
definition: A genetic focal epilepsy, with focal sensory auditory seizures seen in family members. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled.
imported from: mondo.owl
creator: http://orcid.org/0000-0001-5208-3432
date: 2018-06-23T01:47:18Z
has definition: Autosomal dominant epilepsy with auditory features (formerly called autosomal dominant partial /lateral temporal epilepsy with auditory features) is a genetic focal epilepsy, with focal sensory auditory seizures seen in family members. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled.
alternative_term: autosomal dominant partial /lateral temporal epilepsy with auditory features
id: MONDO:0100031
from ILAE: true

Axiom
annotated source: autosomal dominant epilepsy with auditory features
annotated property: hasDefinition
annotated target: Autosomal dominant epilepsy with auditory features (formerly called autosomal dominant partial /lateral temporal epilepsy with auditory features) is a genetic focal epilepsy, with focal sensory auditory seizures seen in family members. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled.

familial temporal lobe epilepsy syndrome
type: Class
subclass of: adolescent/adult-onset epilepsy syndrome
definition: This syndrome is identified in an individual who has seizures with temporal lobe features with a family history of similar seizures. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled.
imported from: mondo.owl
creator: http://orcid.org/0000-0001-5208-3432
date: 2018-06-23T01:48:38Z
has definition: This syndrome is identified in an individual who has seizures with temporal lobe features with a family history of similar seizures. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled.
id: MONDO:0100032
from ILAE: true

Axiom
annotated source: familial temporal lobe epilepsy syndrome
annotated property: hasDefinition
annotated target: This syndrome is identified in an individual who has seizures with temporal lobe features with a family history of similar seizures. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled.

cerebral folate deficiency
type: Class
subclass of: metabolic etiology
definition: Cerebral folate deficiency is defined as a neurological syndrome associated with low CSF 5-methyltetrahydrofolate (5MTHF), the active folate metabolite, in the presence of normal folate metabolism outside the nervous system. Cerebral folate deficiency can result from either disturbed folate transport or from increased folate turnover within the central nervous system.
imported from: mondo.owl
creator: http://orcid.org/0000-0001-5208-3432
date: 2018-06-23T19:01:19Z
has definition: Cerebral folate deficiency is defined as a neurological syndrome associated with low CSF 5-methyltetrahydrofolate (5MTHF), the active folate metabolite, in the presence of normal folate metabolism outside the nervous system. Cerebral folate deficiency can result from either disturbed folate transport or from increased folate turnover within the central nervous system. Typical features manifest from 4 months of age, with irritability, sleep disturbance, developmental delay, cerebellar ataxia, spastic paraplegia, deceleration of head growth, progressive hearing and visual impairment, dyskinesia and epilepsy (seen in one third of children). Neuroimaging shows progressive atrophy and demyelination. Causes include mutations in receptor-mediated folate receptor protein 1 (FR1), folate antagonists (irreversible binding or antibodies that block folate binding to FR1) and other causes of functional impairment in FR1. Secondary forms of cerebral folate deficiency have been recognized during chronic use of anti-folate (including anti-seizure) medications and in various conditions such as Rett syndrome and Aicardi-Goutieres syndrome. Treatment is with folinic acid, to normalize CSF 5MTHF values.
id: MONDO:0100034
from ILAE: true

Axiom
annotated source: cerebral folate deficiency
annotated property: hasDefinition
annotated target: Cerebral folate deficiency is defined as a neurological syndrome associated with low CSF 5-methyltetrahydrofolate (5MTHF), the active folate metabolite, in the presence of normal folate metabolism outside the nervous system. Cerebral folate deficiency can result from either disturbed folate transport or from increased folate turnover within the central nervous system. Typical features manifest from 4 months of age, with irritability, sleep disturbance, developmental delay, cerebellar ataxia, spastic paraplegia, deceleration of head growth, progressive hearing and visual impairment, dyskinesia and epilepsy (seen in one third of children). Neuroimaging shows progressive atrophy and demyelination. Causes include mutations in receptor-mediated folate receptor protein 1 (FR1), folate antagonists (irreversible binding or antibodies that block folate binding to FR1) and other causes of functional impairment in FR1. Secondary forms of cerebral folate deficiency have been recognized during chronic use of anti-folate (including anti-seizure) medications and in various conditions such as Rett syndrome and Aicardi-Goutieres syndrome. Treatment is with folinic acid, to normalize CSF 5MTHF values.

variable age onset epilepsy
type: Class
subclass of: epilepsy syndrome
definition: An epilepsy syndrome that has an onset during variable ages and stages of life.
imported from: mondo.owl
creator: http://orcid.org/0000-0001-5208-3432
date: 2018-06-23T19:42:08Z
has_broad_synonym: variable age at onset electroclinical syndrome
database_cross_reference: DOID:0050706
database_cross_reference: http://orcid.org/0000-0001-8486-0558
id: MONDO:0100036

abnormal eyelid morphology
type: Class
subclass of: Abnormal eye morphology
definition: any structural anomaly of the skin folds covering the front of the eyeball
imported from: mp.owl
has_broad_synonym: eyelid abnormalities
alternative_term: abnormal blephara morphology
alternative_term: abnormal blepharon morphology
alternative_term: abnormal eye lid morphology
alternative_term: abnormal eyelids morphology
alternative_term: abnormal palpebra morphology
alternative_term: abnormal palpebrae morphology
alternative_term: eyelid dysplasia
has_obo_namespace: MPheno.ontology
id: MP:0001340
in subset: IMPC
in subset: Sanger Terms

abnormal heart rate
type: Class
subclass of: abnormal heartbeat
definition: greater than or fewer than average resting heart beats per minute, usually measured by the number of times the heart ventricles contract per unit of time, usually per minute
imported from: mp.owl
has_alternative_id: MP:0000305
has_obo_namespace: MPheno.ontology
id: MP:0001629
in subset: Europhenome Terms
in subset: IMPC

abnormal inflammatory response
type: Class
subclass of: Abnormality of immune system physiology
definition: aberrant reaction of the microcirculation characterized by movement of fluid and leukocytes from the blood into extravascular tissues
imported from: mp.owl
alternative_term: inflammation
alternative_term: inflammatory response
has_obo_namespace: MPheno.ontology
id: MP:0001845

increased inflammatory response
type: Class
subclass of: abnormal inflammatory response
definition: greater than expected response to injury, infection, or insult
imported from: mp.owl
has_obo_namespace: MPheno.ontology
id: MP:0001846

brain inflammation
type: Class
subclass of: CNS inflammation
definition: local accumulation of fluid, plasma proteins, and leukocytes in the brain
imported from: mp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/21135885
alternative_term: encephalitis
has_obo_namespace: MPheno.ontology
id: MP:0001847
from pub med: true

hypopnea
type: Class
subclass of: sleep disorder
definition: breathing that is shallower and/or slower than normal
imported from: mp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/17984449
alternative_term: HypopneaSyndrome
alternative_term: hypopnoea
has_obo_namespace: MPheno.ontology
id: MP:0001956
from pub med: true

abnormal blinking
type: Class
subclass of: abnormal behavior
definition: anomaly in the normal reflex of closing the eyes frequently and rapidly
imported from: mp.owl
has_alternative_id: MP:0001478
alternative_term: blinking abnormalities
has_obo_namespace: MPheno.ontology
id: MP:0001993
in subset: Europhenome Terms
in subset: IMPC
from article: true
from ESSO: true

decreased heart rate variability
type: Class
subclass of: abnormal sinus arrhythmia
definition: reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle
imported from: mp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26441491
alternative_term: decreased respiratory sinus arrhythmia
has_obo_namespace: MPheno.ontology
has_related_synonym: reduced heart rate variability
id: MP:0003929
comment: Heart rate variability (HRV) is the variation of beat-to-beat intervals. A healthy heart has a large HRV, while decreased or absent variability may indicate cardiac disease. HRV also decreases with exercise-induced tachycardia. Heart rate variability (HRV) refers to the beat-to-beat alterations in heart rate. Under resting conditions, the ECG of healthy individuals exhibits periodic variation in R-R intervals. This rhythmic phenomenon, known as respiratory sinus arrhythmia (RSA), fluctuates with the phase of respiration -- cardio-acceleration during inspiration, and cardio-deceleration during expiration. RSA is predominantly mediated by respiratory gating of parasympathetic efferent activity to the heart: vagal efferent traffic to the sinus node occurs primarily in phase with expiration and is absent or attenuated during inspiration. The major reason for the interest in measuring HRV stems from its ability to predict survival after heart attack. Over half a dozen prospective studies have shown that reduced HRV predicts sudden death in patients with MI, independent of other prognostic indicators such as ejection fraction. Reduced HRV appears to be a marker of fatal ventricular arrhythmia. Moreover, a small number of studies have begun to suggest that reduced HRV may predict risk of survival even among individuals free of CHD.
from pub med: true

abnormal hormone level
type: Class
subclass of: abnormal homeostasis
definition: aberrant tissue or circulating concentration of any substance, usually a peptide or steroid, that has a specific metabolic regulatory effect on the activity or behavior of cells expressing a receptor for the hormone
imported from: mp.owl
has_obo_namespace: MPheno.ontology
id: MP:0003953

abnormal pituitary hormone level
type: Class
subclass of: abnormal hormone level
definition: aberration in the blood or tissue concentration of any of the hormones secreted by the pituitary
imported from: mp.owl
has_alternative_id: MP:0005125
has_obo_namespace: MPheno.ontology
id: MP:0003965

abnormal follicle stimulating hormone level
type: Class
subclass of: abnormal pituitary hormone level
definition: anomalous concentration of the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis
imported from: mp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/20696621
alternative_term: abnormal FSH level
alternative_term: abnormal follitropin level
has_obo_namespace: MPheno.ontology
id: MP:0003967
from pub med: true

abnormal luteinizing hormone level
type: Class
subclass of: abnormal pituitary hormone level
definition: aberrant levels in the bloodstream of LH, the hormone that regulates steroid production by the interstitial cells of the testis and the ovary
imported from: mp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/20696621
alternative_term: abnormal ICSH level
alternative_term: abnormal LH level
alternative_term: abnormal interstitial cell-stimulating hormone level
alternative_term: abnormal lutropin level
has_obo_namespace: MPheno.ontology
id: MP:0003969
from pub med: true

abnormal heartbeat
type: Class
subclass of: Abnormality of the cardiovascular system
definition: anomaly in the appearance of regularly spaced contractions of the heart due to defects in the frequency, rate, pattern or extent of heart contraction
imported from: mp.owl
alternative_term: abnormal cardiac contraction
alternative_term: abnormal heart beat
alternative_term: abnormal heart beating
alternative_term: abnormal heart contraction
has_narrow_synonym: abnormal heart rhythm
has_obo_namespace: MPheno.ontology
id: MP:0004085

absent heartbeat
type: Class
subclass of: abnormal heartbeat
definition: lack of a spontaneously beating heart (usually due to defects in the calcium delivery mechanism or loss of a functional contractile apparatus)
imported from: mp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/25966854
alternative_term: asystole
has_obo_namespace: MPheno.ontology
id: MP:0004086
from pub med: true

abnormal sinus arrhythmia
type: Class
subclass of: abnormal heart rate
definition: any anomaly in the normal phenomenon of mild acceleration and slowing of the heart rate that occurs during the respiratory cycle
imported from: mp.owl
database_cross_reference: Fyler:7011
alternative_term: abnormal RSA
alternative_term: abnormal SA
alternative_term: abnormal respiratory sinus arrythmia
has_obo_namespace: MPheno.ontology
has_related_synonym: abnormal heart rate variability
id: MP:0004122
in subset: CvDC Terms

hypotonia
type: Class
subclass of: Abnormal muscle tone
definition: decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness
imported from: mp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26394714
alternative_term: hypotonicity
alternative_term: hypotonus
has_obo_namespace: MPheno.ontology
id: MP:0004144
from ESSO: true
from pub med: true

abnormal timing of postnatal eyelid opening
type: Class
subclass of: abnormal eyelid morphology
definition: anomaly in the average time for the first postnatal eye opening, or failure of eyes to ever open
imported from: mp.owl
alternative_term: abnormal timing of eye lid opening
has_obo_namespace: MPheno.ontology
id: MP:0004874
in subset: Europhenome Terms
in subset: IMPC
comment: In mouse, eyelids normally fuse about 5 days prior to birth and reopen about 19 days later (P8-12).

abnormal behavior
type: Class
subclass of: behavioral symptom
definition: any anomaly in the actions, reactions, or performance of an organism in response to external or internal stimuli compared to controls
imported from: mp.owl
alternative_term: abnormal behaviour
has_obo_namespace: MPheno.ontology
has_related_synonym: abnormal general behavior
has_related_synonym: abnormal general behaviour
id: MP:0004924
in subset: IMPC
in subset: Sanger Terms

abnormal brain wave pattern
type: Class
subclass of: Abnormality of central nervous system electrophysiology
definition: any anomaly in the standard pattern of rhythmic and rapid fluctuation of electrical potential between parts of the brain, often visualized on an electroencephalogram (EEG); the pattern is often measured to diagnose neurological conditions such as seizure disorders (epilepsy)
imported from: mp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK390347/
alternative_term: Abnormal EEG Pattern
alternative_term: abnormal ECoG pattern
alternative_term: abnormal EEG pattern
alternative_term: abnormal electrocorticogram pattern
has_obo_namespace: MPheno.ontology
id: MP:0004994
from NCBI book: true

eyelids fail to open
type: Class
subclass of: abnormal timing of postnatal eyelid opening
definition: eyes remain shut when eyelids are expected to be open
imported from: mp.owl
alternative_term: closed eyes
alternative_term: eye lids fail to open
alternative_term: eyelids don't open
alternative_term: eyes fail to open
has_obo_namespace: MPheno.ontology
has_related_synonym: closed eyes
id: MP:0005176
in subset: Europhenome Terms
in subset: IMPC
in subset: Sanger Terms
comment: In mouse, eyelids normally fuse about 5 days prior to birth and reopen about 19 days later.
from ESSO: true

abnormal circulating ammonia level
type: Class
subclass of: abnormal blood homeostasis
definition: aberrant amount of ammonia or its compounds in blood, formed in the body during organic decomposition
imported from: mp.owl
has_broad_synonym: abnormal ammonia level
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26088882
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/27768938
has_obo_namespace: MPheno.ontology
has_related_synonym: Hyperammonaemia
id: MP:0005308
from pub med: true

hyperekplexia
type: Class
subclass of: rare paroxysmal movement disorder
definition: disorder characterized by pathologic startle responses, protective reactions to unanticipated, potentially threatening, stimuli of any type, particularly auditory
imported from: mp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK2609/
has definition: Hyperekplexia is characterised by an exaggeration of the normal startle response and has several genetic associations (GLRA1, GPHN, GLRB, ARHGEF9 and SLC6A5) all linked to dysfunction of the inhibitory glycinergic pathway in the nervous system. Symptoms are evident from the neonatal period or early infancy. Infants are commonly hypertonic, with rigidity, rather than spasticity, which is relieved by sleep. In response to normal touch, noise or any unexpected stimulus they can startle excessively with flexion of the limbs and retraction of the head. A gentle tap using the tip of the examiner's finger on the tip of the individual's nose should trigger an excessive startle that does not habituate with repeated nose taps. The startle may be a rapid jerk or series of jerks, which can mimic a myoclonic, tonic or tonic-clonic seizure. If an EEG is performed during an episode of stiffening, rhythmic muscle action potentials may be misdiagnosed as spikes. A severe startle response may be associated with apnoea and cyanosis. Severe attacks are particularly linked to SLC6A5 mutations and may be linked to sudden infant death in this syndrome. Severe attacks can be aborted by flexing the trunk and neck of the child - the Vigevano manouvre. Clonazepam may be effective in reducing the startle and increased tone. The symptoms tend to resolve after infancy, but adults may have increased startle-induced falls and/or experience nocturnal muscle jerks. There are rarer subtypes of hyperekplexia associated with mutations in the gephyrin and collybistin genes in which epilepsy can co-exist. The onset of excessive startle in later childhood or adult life may be associated with development of autoantibodies to the glycine receptor.
has_obo_namespace: MPheno.ontology
id: MP:0005604
from ILAE: true
from NCBI book: true

Axiom
annotated source: hyperekplexia
annotated property: hasDefinition
annotated target: Hyperekplexia is characterised by an exaggeration of the normal startle response and has several genetic associations (GLRA1, GPHN, GLRB, ARHGEF9 and SLC6A5) all linked to dysfunction of the inhibitory glycinergic pathway in the nervous system. Symptoms are evident from the neonatal period or early infancy. Infants are commonly hypertonic, with rigidity, rather than spasticity, which is relieved by sleep. In response to normal touch, noise or any unexpected stimulus they can startle excessively with flexion of the limbs and retraction of the head. A gentle tap using the tip of the examiner's finger on the tip of the individual's nose should trigger an excessive startle that does not habituate with repeated nose taps. The startle may be a rapid jerk or series of jerks, which can mimic a myoclonic, tonic or tonic-clonic seizure. If an EEG is performed during an episode of stiffening, rhythmic muscle action potentials may be misdiagnosed as spikes. A severe startle response may be associated with apnoea and cyanosis. Severe attacks are particularly linked to SLC6A5 mutations and may be linked to sudden infant death in this syndrome. Severe attacks can be aborted by flexing the trunk and neck of the child - the Vigevano manouvre. Clonazepam may be effective in reducing the startle and increased tone. The symptoms tend to resolve after infancy, but adults may have increased startle-induced falls and/or experience nocturnal muscle jerks. There are rarer subtypes of hyperekplexia associated with mutations in the gephyrin and collybistin genes in which epilepsy can co-exist. The onset of excessive startle in later childhood or adult life may be associated with development of autoantibodies to the glycine receptor.

CNS inflammation
type: Class
subclass of: increased inflammatory response
definition: local accumulation of fluid, plasma proteins, and leukocytes in the brain and/or spinal cord
imported from: mp.owl
alternative_term: encephalomyelitis
has_obo_namespace: MPheno.ontology
id: MP:0006082

abnormal blood homeostasis
type: Class
subclass of: abnormal homeostasis
definition: anomaly in the processes involved in the maintenance of an internal equilibrium of various functions or chemical or protein composition of the blood
imported from: mp.owl
has_alternative_id: MP:0000179
has_alternative_id: MP:0001546
alternative_term: abnormal blood chemistry
alternative_term: blood chemistry abnormalities
has_obo_namespace: MPheno.ontology
id: MP:0009642

ectopic neuron
type: Class
subclass of: brain disease
definition: appearance of a neuron or group of neurons in a region where it is not normally found
imported from: mp.owl
created_by: csmith
creation_date: 2012-09-27T02:37:58Z
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/25180909
alternative_term: Neuronal Heterotopia
alternative_term: neuronal ectopia
alternative_term: neuronal heterotopia
has_obo_namespace: MPheno.ontology
id: MP:0011723
from pub med: true

abnormal circulating lactate level
type: Class
subclass of: abnormal blood homeostasis
definition: any anomaly of the amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase
imported from: mp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28288363
has_related_synonym: elevated lactate
id: MP:0013403
comment: Lactate levels in the blood are used as an index of anerobic carbohydrate metabolism.

body part movement
type: Class
subclass of: kinesthetic behavior
definition: A change of place or position of part of an organism that does not involve the entire organism [NBO:SMAC]
imported from: nbo.owl
date: 2011-04-14T01:03:39Z
created_by: George Gkoutos
alternative_term: stationary movement
has_obo_namespace: behavior_ontology

whole body movement
type: Class
subclass of: kinesthetic behavior
imported from: nbo.owl
date: 2011-04-14T01:03:39Z
created_by: George Gkoutos
has_obo_namespace: behavior_ontology

emotional behavior
type: Class
subclass of: behavior process
definition: "Behavior related to the complex psychophysiological experience of an individual's state of mind as interacting with biochemical (internal) and environmental (external) influences." [wikipedia:Emotions]
imported from: nbo.owl
date: 2011-04-14T01:03:39Z
created_by: George Gkoutos
alternative_term: affective behaviour
alternative_term: mood
has_obo_namespace: behavior_ontology

mouth movement
type: Class
subclass of: body part movement
definition: The act of moving any of the tissues and hard structures surrounding the mouth other than teeth, jaws or filter structures [NBO:AC]
imported from: nbo.owl
date: 2011-04-14T01:03:39Z
created_by: George Gkoutos
has_narrow_synonym: mouth part movement
has_narrow_synonym: other moved mouth parts
has_obo_namespace: behavior_ontology
from ESSO: true

locomotory behavior phenotype
type: Class
subclass of: voluntary movement behavior phenotype
definition: "Observable characteristic of behavior associated with the specific movement from place to place of an organism." [NBO:GVG]
imported from: nbo.owl
date: 2011-04-14T12:58:40Z
created_by: George Gkoutos
alternative_term: pathological locomotory behaviour
has_obo_namespace: behavior_ontology

locomotory behavior
type: Class
subclass of: whole body movement
definition: Movement from place to place of an organism." [GO:0007626]
imported from: nbo.owl
date: 2011-04-14T01:03:39Z
created_by: George Gkoutos
alternative_term: locomotion
has_obo_namespace: behavior_ontology
xref: GO:0007626
xref: GO:0008344

biting
type: Class
subclass of: jaw movement
definition: The act of seizing with teeth or jaws an object or organism so as to grip or break the surface covering [NBO:AC]
imported from: nbo.owl
date: 2011-04-14T01:03:39Z
created_by: George Gkoutos
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/7487261
alternative_term: bite
has_obo_namespace: behavior_ontology
from ESSO: true
from pub med: true

licking
type: Class
subclass of: tongue movement
definition: The act of stroking or touching with the tongue [NBO:AC]
imported from: nbo.owl
date: 2011-04-14T01:03:39Z
created_by: George Gkoutos
alternative_term: lick
has_obo_namespace: behavior_ontology
from article: true
from ESSO: true

head movement
type: Class
subclass of: body part movement
definition: A change in place or position of the portion of the organism containing the brain, mouth and main sense organs [NBO:SMAC]
imported from: nbo.owl
date: 2011-04-14T01:03:39Z
created_by: George Gkoutos
alternative_term: move head
has_obo_namespace: behavior_ontology

grooming behavior
type: Class
subclass of: behavior process
definition: The act of using body parts to pick at, rub and or remove material from exterior covering, e.g., fur, scales, feathers, skin [NBO:SMAC]
imported from: nbo.owl
date: 2011-04-14T01:03:39Z
created_by: George Gkoutos
alternative_term: groom
alternative_term: grooming behaviour
has_obo_namespace: behavior_ontology
has_related_synonym: hygiene
xref: GO:0007625

paralysis
type: Class
subclass of: locomotory behavior phenotype
definition: "Loss of power of voluntary movement in a muscle through injury or disease of its nerve supply." [JAX:<new dbxref>]
imported from: nbo.owl
date: 2011-04-14T01:18:37Z
created_by: George Gkoutos
has_obo_namespace: behavior_ontology
xref: HP:0003470
xref: MP:0000753

walking behavior
type: Class
subclass of: terrestrial locomotory behavior
definition: The act of locomoting on limbs with body off the ground such that at least one limb is always touching the ground [NBO:AC]
imported from: nbo.owl
date: 2011-04-14T01:03:39Z
created_by: George Gkoutos
alternative_term: walking
has_obo_namespace: behavior_ontology
xref: GO:0007628

scratching
type: Class
subclass of: grooming behavior
definition: The act of dragging claws or nails over a surface [NBO:AC]
imported from: nbo.owl
date: 2011-04-14T01:03:39Z
created_by: George Gkoutos
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29414563
alternative_term: scratch
alternative_term: scratching behavior
has_obo_namespace: behavior_ontology
from ESSO: true
from pub med: true

consciousness behavior
type: Class
subclass of: behavior process
definition: "Behavior related to a variety of aspects of the relationship between the mind and the world with which it interacts." [wikipedia:Consciousness]
imported from: nbo.owl
date: 2011-04-14T01:20:02Z
created_by: George Gkoutos
has_obo_namespace: behavior_ontology
from article: true

feeding behavior
type: Class
subclass of: consumption behavior
definition: The act of bringing an object or substance into the body by swallowing, surrounding or absorbing it [NBO:SMAC]
imported from: nbo.owl
date: 2011-04-14T01:20:02Z
created_by: George Gkoutos
alternative_term: feeding behaviour
has_obo_namespace: behavior_ontology
xref: GO:0007631

retropulsion
type: Class
subclass of: walking behavior
definition: "Moving backwards." [NBO:GVG]
imported from: nbo.owl
date: 2011-03-31T10:32:40Z
created_by: George Gkoutos
has_obo_namespace: behavior_ontology
from article: true
from ESSO: true

impulsive behavior
type: Class
subclass of: behavior process
definition: "A behavior that occur quickly without control, planning, or consideration of the consequences of that behavior." [NBO:GVG]
imported from: nbo.owl
date: 2011-03-31T11:08:55Z
created_by: George Gkoutos
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/16103019
has_obo_namespace: behavior_ontology
from pub med: true

liquid consumption
type: Class
subclass of: feeding behavior
definition: "A behavior associated with the intake of liquid." [NBO:GVG]
imported from: nbo.owl
date: 2011-03-31T12:40:37Z
created_by: George Gkoutos
has_obo_namespace: behavior_ontology

alcohol consumption
type: Class
subclass of: liquid consumption
definition: "A drinking behavior associated with the intake of alcohol." [NBO:GVG]
imported from: nbo.owl
date: 2011-03-31T12:40:53Z
created_by: George Gkoutos
has_obo_namespace: behavior_ontology
from article: true
from ESSO: true

rapid eye movement sleep
type: Class
subclass of: special pattern
imported from: nbo.owl
date: 2011-03-31T03:00:57Z
created_by: George Gkoutos
has definition: Rapid eye movement sleep (REM) sleep is the portion of sleep when there are rapid eye movements (REMs).
alternative_term: REM sleep
alternative_term: Sleep Onset Rapid Eye Movement
alternative_term: paradoxical sleep
has_obo_namespace: behavior_ontology
from article: true

Axiom
annotated source: rapid eye movement sleep
annotated property: hasDefinition
annotated target: Rapid eye movement sleep (REM) sleep is the portion of sleep when there are rapid eye movements (REMs).

excitement behavior
type: Class
subclass of: emotional behavior
imported from: nbo.owl
date: 2011-04-04T07:50:00Z
created_by: George Gkoutos
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26441491
has definition: Excitement is a feeling or situation full of activity, joy, exhilaration, or upheaval
has_obo_namespace: behavior_ontology
has_related_synonym: excitement
has_related_synonym: overexcitement
from pub med: true

Axiom
annotated source: excitement behavior
annotated property: hasDefinition
annotated target: Excitement is a feeling or situation full of activity, joy, exhilaration, or upheaval

behavioral phenotype
type: Class
subclass of: behavior
definition: "An observable characteristic of the behavior of an organism." [NBO:RH]
imported from: hp.owl
imported from: nbo.owl
date: 2011-04-04T08:51:24Z
created_by: George Gkoutos
has_obo_namespace: behavior_ontology
xref: HP:0000708

sensation behavior
type: Class
subclass of: cognitive behavior
definition: "Cognitive perception of a sensation by any of the five senses -- vision, touch, smell, taste, and hearing." [NBO:GVG]
imported from: nbo.owl
date: 2011-04-04T10:00:45Z
created_by: George Gkoutos
has_alternative_id: NBO:0000454
alternative_term: behavior involving perception
alternative_term: perception behavior
has_obo_namespace: behavior_ontology
comment: Example: moving head to watch passing object.

behavior process
type: Class
subclass of: bodily process
definition: "The action, reaction, or performance of an organism in response to external or internal stimuli." [GO:GO\:0007610]
imported from: nbo.owl
date: 2011-04-05T09:53:10Z
created_by: George Gkoutos
has_alternative_id: NBO:0000000
alternative_term: behavior
alternative_term: behaviour
has_obo_namespace: behavior_ontology
xref: GO:0007610

kinesthetic behavior
type: Class
subclass of: behavior process
definition: "Movement behavior of the body or its parts."
imported from: nbo.owl
date: 2011-04-05T02:08:47Z
created_by: George Gkoutos
has_obo_namespace: behavior_ontology

terrestrial locomotory behavior
type: Class
subclass of: locomotory behavior
definition: "Behavior associated with surface locomotion." [NBO:GVG]
imported from: nbo.owl
date: 2011-04-06T09:44:37Z
created_by: George Gkoutos
has_obo_namespace: behavior_ontology

involuntary movement behavior
type: Class
subclass of: body part movement
definition: "Behavior related to movements that occur independent of planning." [NBO:GVG]
imported from: nbo.owl
date: 2011-04-06T02:35:38Z
created_by: George Gkoutos
has_obo_namespace: behavior_ontology
comment: Movevents listed here are involuntary, but may be also generated by free will, like blinking of the eyelids and respiratory movements.

reflexive behavior
type: Class
subclass of: involuntary movement behavior
definition: "Behavior related to involuntary movement in response to a stimulus." [NBO:GVG]
imported from: nbo.owl
date: 2011-04-06T02:36:55Z
created_by: George Gkoutos
has_alternative_id: NBO:0000004
alternative_term: reflex behaviour
has_obo_namespace: behavior_ontology

primitive reflex
type: Class
subclass of: reflexive behavior
definition: "Reflex actions originating in the central nervous system that are exhibited by normal infants in response to particular stimuli." [wikipedia:Primitive_reflexes]
imported from: nbo.owl
date: 2011-04-06T02:44:15Z
created_by: George Gkoutos
alternative_term: infant reflex
alternative_term: infantile reflex
alternative_term: newborn reflex
has_obo_namespace: behavior_ontology

startle reflex
type: Class
subclass of: reflexive behavior
definition: "An action or movement due to the application of a sudden unexpected stimulus." [wikipedia:Startle_reflex]
imported from: nbo.owl
date: 2011-04-06T02:55:21Z
created_by: George Gkoutos
alternative_term: alarm reaction
has_obo_namespace: behavior_ontology

sleeping behavior phenotype
type: Class
subclass of: rhythmic behavior phenotype
definition: "Observable characteristic of behavior related to the readily reversible state of reduced awareness and metabolic activity that occurs periodically in many animals." [NBO:GVG]
imported from: nbo.owl
date: 2011-04-07T01:19:38Z
created_by: George Gkoutos
has_obo_namespace: behavior_ontology

sleep terror
type: Class
subclass of: NREM parasomnia
definition: "A NREM parasomnia characterised by abrupt awakening from sleep with behavior consistent with terror and a temporary inability to regain full consciousness." [NBO:GVG]
imported from: nbo.owl
date: 2011-04-07T01:25:22Z
created_by: George Gkoutos
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK2609/
alternative_term: Pavor nocturnus
alternative_term: night terror
alternative_term: pavor nocturnus
has_obo_namespace: behavior_ontology
from NCBI book: true

acoustic startle reflex
type: Class
subclass of: startle reflex
definition: "An action or movement due to the application of a sudden unexpected loud noise." [NBO:GVG]
imported from: nbo.owl
date: 2011-04-07T05:31:27Z
created_by: George Gkoutos
alternative_term: Acoustic Startle
has_obo_namespace: behavior_ontology
from article: true
from ESSO: true

snout reflex
type: Class
subclass of: primitive reflex
definition: "A pouting or pursing of the lips that is elicited by light tapping of the closed lips near the midline." [wikipedia:Snout_reflex]
imported from: nbo.owl
date: 2011-04-07T05:47:28Z
created_by: George Gkoutos
alternative_term: Pursing
has_obo_namespace: behavior_ontology
has_related_synonym: pursing
from ESSO: true

rhythmic behavior phenotype
type: Class
subclass of: behavioral phenotype
imported from: nbo.owl
date: 2011-04-08T02:18:40Z
created_by: George Gkoutos
has_obo_namespace: behavior_ontology

dyssomnia
type: Class
subclass of: sleeping behavior phenotype
definition: "A pathological sleeping behavior related to the initiating or maintaining sleep or of excessive sleepiness and are characterized by a disturbance in the amount, quality, or timing of sleep." [wikipedia:Dyssomnia]
imported from: nbo.owl
date: 2011-04-08T02:20:42Z
created_by: George Gkoutos
has_obo_namespace: behavior_ontology

intrinsic sleep disorder
type: Class
subclass of: dyssomnia
imported from: nbo.owl
date: 2011-04-08T02:21:57Z
created_by: George Gkoutos
has definition: Intrinsic sleep disorders are disorders that originate or develop within the body or that arise from causes within the body.
has_obo_namespace: behavior_ontology
from pub med: true

Axiom
annotated source: intrinsic sleep disorder
annotated property: hasDefinition
annotated target: Intrinsic sleep disorders are disorders that originate or develop within the body or that arise from causes within the body.

parasomnia
type: Class
subclass of: sleep disorder
definition: "A sleeping behavior phenotype that involve abnormal and unnatural movements, emotions, perceptions, and dreams that occur while falling asleep, sleeping, between sleep stages, or during arousal from sleep." [wikipedia:Parasomnia]
imported from: nbo.owl
date: 2011-04-08T03:20:06Z
created_by: George Gkoutos
has definition: Arousal parasomnias including night terrors, sleep walking and confusional arousals are behaviors that arise out of deep non-REM sleep (stages 3 & 4), typically in the first third of the nights sleep. Arousal parasomnias are common and can be regarded as part of normal sleep unless the behavior produces disruption to the individual or their family. An arousal can vary from sitting up in bed and making a few minor vocalisations and then lying down again to a night terror in which the individual rouses, may walk, talk, appear to be agitated or frightened, shout and scream and fail to recognize family members. These events may be misdiagnosed as temporal lobe seizures however confusional arousals and night terrors are typically longer and are only broadly stereotyped. The individual throughout this behavior is still sleeping with slow waves seen on the EEG. Arousal parasomnias tend to occur more at times of anxiety and psychological stress. There is typically no recollection of the arousal, however dramatic it is. There is often a family history suggesting a genetic predisposition. If arousals are occurring more than once a night or every night then the differential of nocturnal frontal lobe seizures should be considered. Video, including the onset of the event, is usually the most useful investigation as ictal EEG is often obscured by movement artefact and deep frontal lobe discharges may not be visible on surface EEG (the ictal EEG may be normal). Video of multiple events will reveal the stereotyped nature of epileptic seizures. History from the individual may reveal retained awareness during the event in frontal lobe seizures.
alternative_term: Parasomnias
has_obo_namespace: behavior_ontology
from ESSO: true
from ILAE: true

Axiom
annotated source: parasomnia
annotated property: hasDefinition
annotated target: Arousal parasomnias including night terrors, sleep walking and confusional arousals are behaviors that arise out of deep non-REM sleep (stages 3 & 4), typically in the first third of the nights sleep. Arousal parasomnias are common and can be regarded as part of normal sleep unless the behavior produces disruption to the individual or their family. An arousal can vary from sitting up in bed and making a few minor vocalisations and then lying down again to a night terror in which the individual rouses, may walk, talk, appear to be agitated or frightened, shout and scream and fail to recognize family members. These events may be misdiagnosed as temporal lobe seizures however confusional arousals and night terrors are typically longer and are only broadly stereotyped. The individual throughout this behavior is still sleeping with slow waves seen on the EEG. Arousal parasomnias tend to occur more at times of anxiety and psychological stress. There is typically no recollection of the arousal, however dramatic it is. There is often a family history suggesting a genetic predisposition. If arousals are occurring more than once a night or every night then the differential of nocturnal frontal lobe seizures should be considered. Video, including the onset of the event, is usually the most useful investigation as ictal EEG is often obscured by movement artefact and deep frontal lobe discharges may not be visible on surface EEG (the ictal EEG may be normal). Video of multiple events will reveal the stereotyped nature of epileptic seizures. History from the individual may reveal retained awareness during the event in frontal lobe seizures.

sleep breathing disorder
type: Class
subclass of: intrinsic sleep disorder
definition: "An intrinsic sleep disorder characterised by breathing abnormalities." [NBO:GVG]
imported from: nbo.owl
date: 2011-04-08T03:27:40Z
created_by: George Gkoutos
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29287215
alternative_term: SBD
alternative_term: sleep-disordered breathing
alternative_term: sleep-related breathing disorder
has_obo_namespace: behavior_ontology
from pub med: true

NREM parasomnia
type: Class
subclass of: sleeping behavior phenotype
definition: "A type of parasomnia that occurs during NREM sleep." [NBO:GVG]
imported from: nbo.owl
date: 2011-04-08T03:37:10Z
created_by: George Gkoutos
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/10996566
has_obo_namespace: behavior_ontology
from pub med: true

somniloquy
type: Class
subclass of: NREM parasomnia
definition: "A NREM parasomnia characterised by talking during sleep." [NBO:GVG]
imported from: nbo.owl
date: 2011-04-09T10:02:28Z
created_by: George Gkoutos
alternative_term: SleepTalking
alternative_term: sleep-talking
has_obo_namespace: behavior_ontology
from article: true

REM parasomnia
type: Class
subclass of: sleeping behavior phenotype
definition: "A type of parasomnia that occurs during REM sleep." [NBO:GVG]
imported from: nbo.owl
date: 2011-04-09T10:07:11Z
created_by: George Gkoutos
has_obo_namespace: behavior_ontology

sleep paralysis
type: Class
subclass of: paralysis
subclass of: REM parasomnia
definition: "A REM parasomnia characterised by periods of inability to perform voluntary movements either when going to sleep or when waking up." [wikipedia:Sleep_paralysis]
imported from: nbo.owl
date: 2011-04-09T10:24:27Z
created_by: George Gkoutos
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/19162231
has_obo_namespace: behavior_ontology
from pub med: true

swallowing
type: Class
subclass of: feeding behavior
definition: The act of moving food from the mouth cavity to the esophagus through coordinated muscular movements [NBO:AC]
imported from: nbo.owl
date: 2011-04-10T10:39:39Z
created_by: George Gkoutos
alternative_term: swallow
has_obo_namespace: behavior_ontology
from article: true
from ESSO: true

kinesthetic behavior phenotype
type: Class
subclass of: behavioral phenotype
definition: "Observable characteristic of behavior related to the movement of the body's muscles, tendons, and joints." [NBO:GVG]
imported from: nbo.owl
date: 2011-04-14T08:31:34Z
created_by: George Gkoutos
has_obo_namespace: behavior_ontology

head bobbing
type: Class
subclass of: head movement
definition: Movement of the head in the vertical plane. [NBO:GVG]
imported from: nbo.owl
date: 2011-04-14T08:39:38Z
created_by: George Gkoutos
alternative_term: head nodding
alternative_term: nod head
alternative_term: nods
has_obo_namespace: behavior_ontology
from ESSO: true

pilomotor reflex
type: Class
subclass of: reflexive behavior
definition: "A reflex that elucidates goose bumps (bumps on a person's skin at the base of body hairs) which may involuntarily develop when a person is cold or experiences strong emotions such as fear, awe, admiration or sexual arousal" [wikipedia:Goose_bumps]
imported from: nbo.owl
date: 2011-04-14T10:15:17Z
created_by: George Gkoutos
alternative_term: horripilation
alternative_term: piloerection
has_obo_namespace: behavior_ontology
from ESSO: true

tremor
type: Class
subclass of: involuntary movement behavior phenotype
definition: "An involuntary rhythmical, oscillatory movement of a body part." [NBO:GVG]
imported from: nbo.owl
date: 2011-04-14T11:13:39Z
created_by: George Gkoutos
alternative_term: quivering
alternative_term: shivering
alternative_term: trembling
has_obo_namespace: behavior_ontology
xref: HP:0001337
xref: MP:0000745
from article: true
from ESSO: true

cognitive behavior
type: Class
subclass of: behavior process
definition: "Behaviour related to cognitive processes." [NBO:JH]
imported from: nbo.owl
date: 2011-04-14T03:51:13Z
created_by: George Gkoutos
has_obo_namespace: behavior_ontology

hallucination
type: Class
subclass of: Behavioral Disorder
definition: "Perception in the absence of a stimulus." [wikipedia:Hallucination]
imported from: nbo.owl
date: 2011-04-14T03:52:31Z
created_by: George Gkoutos
has definition: Hallucinations in psychiatric disorders are commonly complex phenomena involving multiple sensory modalities, in contrast to the elementary sensory hallucinations (colours/flashes of light, ringing/buzzing sounds etc) that occur in focal epileptic seizures. Complex hallucinations with hallucinations of seeing people or scenes, hearing voices or formed music and distortions of visual perception may occur as an uncommon manifestation of focal seizures. The episodic nature of these phenomena, together with the presence of other features of a seizure and the interval return to a normal baseline helps distinguish these events from psychiatric hallucinations.
has_obo_namespace: behavior_ontology
has_related_synonym: Hallucinations in psychiatric disorders
xref: HP:0000738
from ILAE: true

Axiom
annotated source: hallucination
annotated property: hasDefinition
annotated target: Hallucinations in psychiatric disorders are commonly complex phenomena involving multiple sensory modalities, in contrast to the elementary sensory hallucinations (colours/flashes of light, ringing/buzzing sounds etc) that occur in focal epileptic seizures. Complex hallucinations with hallucinations of seeing people or scenes, hearing voices or formed music and distortions of visual perception may occur as an uncommon manifestation of focal seizures. The episodic nature of these phenomena, together with the presence of other features of a seizure and the interval return to a normal baseline helps distinguish these events from psychiatric hallucinations.

visual hallucination
type: Class
subclass of: sensation behavior
definition: "A form of hallucination that involves perceiving images without visual stimulus." [NBO:GVG]
imported from: nbo.owl
date: 2011-04-14T03:54:02Z
created_by: George Gkoutos
alternative_term: Polyopia
alternative_term: paracusia
has_obo_namespace: behavior_ontology
xref: HP:0008765
from ESSO: true

auditory hallucination
type: Class
subclass of: sensation behavior
definition: "A form of hallucination that involves perceiving sounds without auditory stimulus." [wikipedia:Auditory_hallucination]
imported from: nbo.owl
date: 2011-04-14T03:56:24Z
created_by: George Gkoutos
has_obo_namespace: behavior_ontology
xref: HP:0002367
from article: true
from ESSO: true

olfactory hallucination
type: Class
subclass of: sensation behavior
definition: "A form of hallucination that involves perceiving odors without odor stimulus." [NBO:GVG]
imported from: nbo.owl
date: 2011-04-14T03:58:15Z
created_by: George Gkoutos
alternative_term: phantosmia
has_obo_namespace: behavior_ontology
from article: true
from ESSO: true

involuntary movement behavior phenotype
type: Class
subclass of: kinesthetic behavior phenotype
definition: "Observable characteristic of behavior related to movements that occur independent of planning." [NBO:GVG]
imported from: nbo.owl
date: 2011-05-27T11:56:52Z
created_by: George Gkoutos
has_obo_namespace: behavior_ontology

voluntary movement behavior phenotype
type: Class
subclass of: kinesthetic behavior phenotype
definition: "Observable characteristic of behavior related to movements executed with intent." [NBO:GVG]
imported from: nbo.owl
date: 2011-05-27T11:57:12Z
created_by: George Gkoutos
has_obo_namespace: behavior_ontology

reflex seizure
type: Class
subclass of: provoked seizure
definition: "A type of seizure generated by sudden sensor stimulation caused by the environment." [NBO:GVG]
imported from: nbo.owl
date: 2011-05-28T11:07:41Z
created_by: George Gkoutos
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK2596/
alternative_term: environmental epilepsy
alternative_term: reflex epilepsy
has_obo_namespace: behavior_ontology
xref: MP:0009358
from NCBI book: true

febrile seizure
type: Class
subclass of: provoked seizure
definition: "A type of seizure associated with a significant rise in body temperature." [wikpedia:http\://en.wikipedia.org/wiki/Febrile_seizure]
imported from: hp.owl
date: 2011-05-27T05:13:26Z
created_by: George Gkoutos
alternative_term: febrile convulsion
alternative_term: fever fit
has_obo_namespace: behavior_ontology
xref: HP:0002373
from article: true
from EPILONT: true

benign rolandic epilepsy
type: Class
subclass of: epilepsy
definition: "Benign rolandic epilepsy is characterized by either simple partial seizures involving the mouth and face or generalized tonic-clonic seizures." [wikipedia:http\://en.wikipedia.org/wiki/Rolandic_epilepsy]
imported from: nbo.owl
date: 2011-05-27T05:24:49Z
created_by: George Gkoutos
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/32086099
alternative_term: benign (childhood) epilepsy with centrotemporal (EEG) spikes
has_obo_namespace: behavior_ontology
from pub med: true

lateral temporal lobe epilepsy
type: Class
subclass of: temporal lobe epilepsy
definition: "A temporal lobe epilepsy arises in the neocortex on the outer surface of the temporal lobe of the brain." [wikipedia:http\://en.wikipedia.org/wiki/Temporal_lobe_epilepsy]
imported from: nbo.owl
date: 2011-05-27T05:31:27Z
created_by: George Gkoutos
has db x ref: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6039834/
alternative_term: LTLE
has_obo_namespace: behavior_ontology
from pub med: true

continuous seizure
type: Class
subclass of: seizure
imported from: nbo.owl
date: 2011-05-27T05:39:40Z
created_by: George Gkoutos
has definition: If seizures are prolonged, or occur in a series, there is an increased risk of status epilepticus. The term literally means a continuous state of seizure. Status epilepticus is usually defined as 30 minutes of uninterrupted seizure activity.
has_obo_namespace: behavior_ontology
from article: true

Axiom
annotated source: continuous seizure
annotated property: hasDefinition
annotated target: If seizures are prolonged, or occur in a series, there is an increased risk of status epilepticus. The term literally means a continuous state of seizure. Status epilepticus is usually defined as 30 minutes of uninterrupted seizure activity.

provoked seizure
type: Class
subclass of: seizure
definition: "Paroxysmal events that mimic an epileptic seizure but do not involve abnormal, rhythmic discharges of cortical neurons." [wikipedia:http\://en.wikipedia.org/wiki/Non-epileptic_seizure]
imported from: hp.owl
imported from: nbo.owl
date: 2011-05-27T05:47:13Z
created_by: George Gkoutos
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/21633606
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/31617494
alternative_term: non-epileptic seizure
has_obo_namespace: behavior_ontology
from pub med: true

psychogenic non-epileptic seizure
type: Class
subclass of: provoked seizure
definition: "A type of seizure of psychological origin that superficially resembles an epileptic seizure, but without the characteristic electrical discharges associated with epilepsy." [wikipedia:http\://en.wikipedia.org/wiki/Psychogenic_non-epileptic_seizures]
imported from: nbo.owl
date: 2011-05-27T05:50:08Z
created_by: George Gkoutos
alternative_term: PNES
alternative_term: non-epileptic attack disorder
has_obo_namespace: behavior_ontology
from article: true

typical absence seizure
type: Class
subclass of: generalized non-motor onset seizure
definition: "An absence seizure induced by hyperventilation." [NBO:GVG]
imported from: nbo.owl
date: 2011-05-28T11:59:14Z
created_by: George Gkoutos
has definition: A typical absence seizure is a generalized seizure with abrupt onset and offset of altered awareness which can vary in severity (see specific syndromes). Memory for events during the seizures is usually impaired although there may be some retained awareness particularly for adolescents. Clonic movements of eyelids, head, eyebrows, chin, perioral or other facial parts may occur, most typically at 3Hz. Myoclonus of limbs can rarely occur. Oral and manual automatisms are common and there may be perseveration of behaviors occurring prior to seizure onset. Absence seizures were previously known as 'petit mal' seizures. Absence status epilepticus can occur.
has_obo_namespace: behavior_ontology
from ILAE: true

Axiom
annotated source: typical absence seizure
annotated property: hasDefinition
annotated target: A typical absence seizure is a generalized seizure with abrupt onset and offset of altered awareness which can vary in severity (see specific syndromes). Memory for events during the seizures is usually impaired although there may be some retained awareness particularly for adolescents. Clonic movements of eyelids, head, eyebrows, chin, perioral or other facial parts may occur, most typically at 3Hz. Myoclonus of limbs can rarely occur. Oral and manual automatisms are common and there may be perseveration of behaviors occurring prior to seizure onset. Absence seizures were previously known as 'petit mal' seizures. Absence status epilepticus can occur.

atypical absence seizure
type: Class
subclass of: generalized non-motor onset seizure
definition: "An absence seizure not induced by hyperventilation." [NBO:GVG]
imported from: nbo.owl
date: 2011-05-28T11:59:31Z
created_by: George Gkoutos
has definition: An atypical absence seizure has less abrupt onset and offset of loss of awareness than typical absence seizures. They are often associated with other features such as loss of muscle tone of the head, trunk or limbs (often a gradual slump) and subtle myoclonic jerks. Atypical absence seizures often occur in individuals with intellectual impairment.The loss of awareness may be minimal with the patient continuing an activity, but more slowly or with mistakes.
has_obo_namespace: behavior_ontology
xref: HP:0007270
from ILAE: true

Axiom
annotated source: atypical absence seizure
annotated property: hasDefinition
annotated target: An atypical absence seizure has less abrupt onset and offset of loss of awareness than typical absence seizures. They are often associated with other features such as loss of muscle tone of the head, trunk or limbs (often a gradual slump) and subtle myoclonic jerks. Atypical absence seizures often occur in individuals with intellectual impairment.The loss of awareness may be minimal with the patient continuing an activity, but more slowly or with mistakes.

automatism
type: Class
subclass of: involuntary movement behavior phenotype
definition: "Purposeless repetitive motor activities that often occur during a seizure." [NBO:GVG]
imported from: nbo.owl
date: 2011-05-28T12:14:35Z
created_by: George Gkoutos
has_obo_namespace: behavior_ontology
comment: Automatisms may occur during complex partial or absence seizures.
from EPILONT: true
from ESSO: true

gestural automatism
type: Class
subclass of: automatism
definition: "An automatism characterised by involuntary movement of the limbs or body such as fumbling, picking and rubbing." [NBO:GVG]
imported from: nbo.owl
date: 2011-05-28T12:17:42Z
created_by: George Gkoutos
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29325826
has_obo_namespace: behavior_ontology
has_related_synonym: Fumbling
from ESSO: true
from pub med: true

drug induced seizure
type: Class
subclass of: provoked seizure
definition: "A type of seizure induced by the administration of a drug." [NBO:GVG]
imported from: nbo.owl
date: 2011-05-28T12:32:11Z
created_by: George Gkoutos
has_obo_namespace: behavior_ontology
from EPILONT: true

drug withdrawal induced seizure
type: Class
subclass of: drug induced seizure
definition: "A type of seizure induced by termination of drug administration." [NBO:GVG]
imported from: nbo.owl
date: 2011-05-28T12:35:22Z
created_by: George Gkoutos
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/31832260
has_obo_namespace: behavior_ontology
from pub med: true

alcohol withdrawal induced seizure
type: Class
subclass of: drug withdrawal induced seizure
definition: "A type of seizure induced by termination of alcohol administration." [NBO:GVG]
imported from: nbo.owl
date: 2011-05-28T01:19:06Z
created_by: George Gkoutos
has_obo_namespace: behavior_ontology
from article: true

gelastic epilepsy
type: Class
subclass of: epilepsy
definition: "A type of epilepsy that is characterised a sudden burst of energy, usually in the form of laughing." [NBO:GVG]
imported from: nbo.owl
date: 2011-05-28T11:12:42Z
created_by: George Gkoutos
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/15528919
alternative_term: gelastic seizure
has_obo_namespace: behavior_ontology
xref: HP:0010821
from pub med: true

dacrystic epilepsy
type: Class
subclass of: epilepsy
definition: "A type of epilepsy that is characterised a sudden paroxysmal crying." [NBO:<new dbxref>, NBO:GVG]
imported from: nbo.owl
date: 2011-05-28T11:18:45Z
created_by: George Gkoutos
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29170920
alternative_term: dacrystic seizure
has_obo_namespace: behavior_ontology
xref: HP:0010820
from pub med: true

jaw movement
type: Class
subclass of: mouth movement
imported from: nbo.owl
date: 2012-03-17T09:51:17Z
created_by: gkoutos
has_obo_namespace: behavior_ontology

tongue movement
type: Class
subclass of: mouth movement
definition: The act of displacing part or all of the tongue from its current position [NBO:SMAC]
imported from: nbo.owl
date: 2012-03-17T09:52:25Z
created_by: gkoutos
has_obo_namespace: behavior_ontology

consumption behavior
type: Class
subclass of: behavior process
definition: "Behavior related to the intake of substances." [NBOC:GVG]
imported from: nbo.owl
created_by: George Gkoutos
has_broad_synonym: ingest

root
type: Class
subclass of: material entity
imported from: ncbitaxon.owl
database_cross_reference: GC_ID:1
has_obo_namespace: ncbi_taxonomy
has_related_synonym: all

Meriones unguiculatus
type: Class
subclass of: Rodentia
imported from: ncbitaxon.owl
has_rank: NCBITaxon species
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/22938964
database_cross_reference: GC_ID:1
has definition: A rodent belonging to subfamily Gerbillinae, Meriones unguiculatus is the most common species of the gerbil subfamily. The Mongolian gerbil was first imported into the United States in 1954 by Dr. Victor Schwentker. Most gerbils used in pre-clinical research are agouti-colored and comprise less than 0.5% of total rodent usage annually.
alternative_term: Mongolian gerbil
alternative_term: Mongolian jird
has_obo_namespace: ncbi_taxonomy
from pub med: true

Axiom
annotated source: Meriones unguiculatus
annotated property: hasDefinition
annotated target: A rodent belonging to subfamily Gerbillinae, Meriones unguiculatus is the most common species of the gerbil subfamily. The Mongolian gerbil was first imported into the United States in 1954 by Dr. Victor Schwentker. Most gerbils used in pre-clinical research are agouti-colored and comprise less than 0.5% of total rodent usage annually.

Mus musculus
type: Class
subclass of: Rodentia
imported from: ncbitaxon.owl
has_rank: NCBITaxon species
has_alternative_id: NCBITaxon:85055
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28332054
database_cross_reference: GC_ID:1
has definition: Mus Musculus is the polytypic species which encompasses all the subspecies and geographical or chromosomal races of the house mouse.
alternative_term: house mouse
alternative_term: mouse
has_obo_namespace: ncbi_taxonomy
has_related_synonym: mice C57BL/6xCBA/CaJ hybrid
from pub med: true

Axiom
annotated source: Mus musculus
annotated property: hasDefinition
annotated target: Mus Musculus is the polytypic species which encompasses all the subspecies and geographical or chromosomal races of the house mouse.

Papio papio
type: Class
subclass of: Primates
imported from: ncbitaxon.owl
has_rank: NCBITaxon species
has_alternative_id: NCBITaxon:42821
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/22938964
database_cross_reference: GC_ID:1
has definition: The baboon species, Papio papio.
alternative_term: Guinea baboon
alternative_term: Papio papio sensu Groves
alternative_term: baboon
has_obo_namespace: ncbi_taxonomy
has_related_synonym: Papio cynocephalus papio
has_related_synonym: Papio hamadryas papio
from pub med: true

Axiom
annotated source: Papio papio
annotated property: hasDefinition
annotated target: The baboon species, Papio papio.

Rattus norvegicus
type: Class
subclass of: Rodentia
imported from: ncbitaxon.owl
has_rank: NCBITaxon species
has_alternative_id: NCBITaxon:36465
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29933054
database_cross_reference: GC_ID:1
has definition: The common rat, Rattus norvegicus, often used as an experimental organism.
alternative_term: Norway rat
alternative_term: brown rat
alternative_term: rat
alternative_term: rats
has_obo_namespace: ncbi_taxonomy
has_related_synonym: Rattus norvegicus8
has_related_synonym: Rattus norwegicus
from pub med: true

Axiom
annotated source: Rattus norvegicus
annotated property: hasDefinition
annotated target: The common rat, Rattus norvegicus, often used as an experimental organism.

cellular organisms
type: Class
subclass of: root
imported from: ncbitaxon.owl
database_cross_reference: GC_ID:1
has definition: A cellular organism is an organism that contains one or more cells.
has_obo_namespace: ncbi_taxonomy
has_related_synonym: biota

Axiom
annotated source: cellular organisms
annotated property: hasDefinition
annotated target: A cellular organism is an organism that contains one or more cells.

Eukaryota
type: Class
subclass of: cellular organisms
imported from: ncbitaxon.owl
has_rank: NCBITaxon superkingdom
database_cross_reference: GC_ID:1
database_cross_reference: PMID:23020233
database_cross_reference: PMID:30257078
has definition: One of the three domains of life (the others being bacteria and archea), also called Eukarya. These are organisms whose cells are enclosed in membranes and possess a nucleus. They comprise almost all multicellular and many unicellular organisms, and are traditionally divided into groups (sometimes called kingdoms) including Animals; plants; fungi; and various algae and other taxa that were previously part of the old kingdom Protista.
alternative_term: eucaryotes
alternative_term: eukaryotes
has_obo_namespace: ncbi_taxonomy
has_related_synonym: Eucarya
has_related_synonym: Eucaryotae
has_related_synonym: Eukarya
has_related_synonym: Eukaryotae
has_related_synonym: eukaryotes

Axiom
annotated source: Eukaryota
annotated property: hasDefinition
annotated target: One of the three domains of life (the others being bacteria and archea), also called Eukarya. These are organisms whose cells are enclosed in membranes and possess a nucleus. They comprise almost all multicellular and many unicellular organisms, and are traditionally divided into groups (sometimes called kingdoms) including Animals; plants; fungi; and various algae and other taxa that were previously part of the old kingdom Protista.

Mammalia
type: Class
subclass of: Vertebrata <vertebrates>
imported from: ncbitaxon.owl
has_rank: NCBITaxon class
database_cross_reference: GC_ID:1
has definition: Warm-blooded vertebrate animals belonging to the class Mammalia, including all that possess hair and suckle their young.
alternative_term: mammals
has_obo_namespace: ncbi_taxonomy
has_related_synonym: mammals

Axiom
annotated source: Mammalia
annotated property: hasDefinition
annotated target: Warm-blooded vertebrate animals belonging to the class Mammalia, including all that possess hair and suckle their young.

Platyhelminthes
type: Class
subclass of: Eukaryota
imported from: ncbitaxon.owl
has_rank: NCBITaxon phylum
database_cross_reference: GC_ID:1
alternative_term: flatworm
alternative_term: flatworms
has_obo_namespace: ncbi_taxonomy
has_related_synonym: flatworms

Taenia solium
type: Class
subclass of: Platyhelminthes
imported from: ncbitaxon.owl
has_rank: NCBITaxon species
has_alternative_id: NCBITaxon:133821
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30711777
database_cross_reference: GC_ID:1
has definition: Taenia solium is the cause of neurocysticercosis, which has several forms including parenchymal, subarachnoid, ventricular, and spinal forms.
alternative_term: pig tapeworm
alternative_term: pork tapeworm
has_obo_namespace: ncbi_taxonomy
has_related_synonym: Cysticercus cellulosae
from pub med: true

Axiom
annotated source: Taenia solium
annotated property: hasDefinition
annotated target: Taenia solium is the cause of neurocysticercosis, which has several forms including parenchymal, subarachnoid, ventricular, and spinal forms.

Nematoda
type: Class
subclass of: Eukaryota
imported from: ncbitaxon.owl
has_rank: NCBITaxon phylum
database_cross_reference: GC_ID:1
alternative_term: nematode
alternative_term: nematodes
alternative_term: roundworm
alternative_term: roundworms
has_obo_namespace: ncbi_taxonomy
has_related_synonym: Nemata
has_related_synonym: nematodes

Caenorhabditis elegans
type: Class
subclass of: Nematoda
imported from: ncbitaxon.owl
has_rank: NCBITaxon species
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/22938964
database_cross_reference: GC_ID:1
has definition: Caenorhabditis elegans is a small, free-living, nematode worm, which has become established as a standard model organism for a great variety of genetic investigations, being especially useful for studying developmental biology, cell biology and neurobiology.
alternative_term: roundworm
has_obo_namespace: ncbi_taxonomy
has_related_synonym: Rhabditis elegans
from pub med: true

Axiom
annotated source: Caenorhabditis elegans
annotated property: hasDefinition
annotated target: Caenorhabditis elegans is a small, free-living, nematode worm, which has become established as a standard model organism for a great variety of genetic investigations, being especially useful for studying developmental biology, cell biology and neurobiology.

Arthropoda
type: Class
subclass of: Eukaryota
imported from: ncbitaxon.owl
has_rank: NCBITaxon phylum
database_cross_reference: GC_ID:1
alternative_term: arthropods
has_obo_namespace: ncbi_taxonomy
has_related_synonym: arthropods

Drosophila melanogaster
type: Class
subclass of: Arthropoda
imported from: ncbitaxon.owl
has_rank: NCBITaxon species
has_alternative_id: NCBITaxon:2267365
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/22938964
database_cross_reference: GC_ID:1
has definition: Drosophila melanogaster is a small, common fly found near unripe and rotted fruit. It has been in use for over a century to study genetics and behavior.
alternative_term: fruit fly
has_obo_namespace: ncbi_taxonomy
has_related_synonym: Drosophila melangaster
has_related_synonym: Sophophora melanogaster
from pub med: true

Axiom
annotated source: Drosophila melanogaster
annotated property: hasDefinition
annotated target: Drosophila melanogaster is a small, common fly found near unripe and rotted fruit. It has been in use for over a century to study genetics and behavior.

Vertebrata <vertebrates>
type: Class
subclass of: Eukaryota
imported from: ncbitaxon.owl
database_cross_reference: GC_ID:1
has definition: Animals having a vertebral column, members of the phylum Chordata, subphylum Craniata comprising mammals, birds, reptiles, amphibians, and fishes.
alternative_term: Vertebrata
alternative_term: vertebrates
has_obo_namespace: ncbi_taxonomy
has_related_synonym: vertebrates

Axiom
annotated source: Vertebrata <vertebrates>
annotated property: hasDefinition
annotated target: Animals having a vertebral column, members of the phylum Chordata, subphylum Craniata comprising mammals, birds, reptiles, amphibians, and fishes.

Amphibia
type: Class
subclass of: Vertebrata <vertebrates>
imported from: ncbitaxon.owl
has_rank: NCBITaxon class
database_cross_reference: GC_ID:1
alternative_term: amphibians
has_obo_namespace: ncbi_taxonomy
has_related_synonym: amphibians

Xenopus laevis
type: Class
subclass of: Amphibia
imported from: ncbitaxon.owl
has_rank: NCBITaxon species
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/23929939
database_cross_reference: GC_ID:1
has definition: The albino Xenopus laevis tadpole is a transparent vertebrate used extensively for in vivo imaging of neuronal growth and synaptogenesis.
alternative_term: African clawed frog
alternative_term: clawed frog
alternative_term: common platanna
alternative_term: platanna
has_obo_namespace: ncbi_taxonomy
has_related_synonym: Bufo laevis
has_related_synonym: Xenopus leavis
from pub med: true

Axiom
annotated source: Xenopus laevis
annotated property: hasDefinition
annotated target: The albino Xenopus laevis tadpole is a transparent vertebrate used extensively for in vivo imaging of neuronal growth and synaptogenesis.

Primates
type: Class
subclass of: Mammalia
imported from: ncbitaxon.owl
has_rank: NCBITaxon order
database_cross_reference: GC_ID:1
alternative_term: primate
has_obo_namespace: ncbi_taxonomy
has_related_synonym: Primata
has_related_synonym: primates

Macaca mulatta
type: Class
subclass of: Primates
imported from: ncbitaxon.owl
has_rank: NCBITaxon species
has_alternative_id: NCBITaxon:36502
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/13268119
database_cross_reference: GC_ID:1
has definition: Macaca mulatta or Rhesus macaques are frequently used models of human disease in biomedical research than any other nonhuman primate as their genomes share approximately 93.5% identity with that of humans.
alternative_term: Rhesus monkey
alternative_term: rhesus macaque
alternative_term: rhesus macaques
alternative_term: rhesus monkeys
has_obo_namespace: ncbi_taxonomy
comment on definition: Defintion modified
from pub med: true

Homo sapiens
type: Class
subclass of: Primates
imported from: ncbitaxon.owl
has_rank: NCBITaxon species
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30219655
database_cross_reference: GC_ID:1
has definition: The primate species of mammal to which modern humans belong.
alternative_term: human
alternative_term: man
has_obo_namespace: ncbi_taxonomy
has_related_synonym: Home sapiens
has_related_synonym: Homo sampiens
has_related_synonym: Homo sapeins
has_related_synonym: Homo sapian
has_related_synonym: Homo sapians
has_related_synonym: Homo sapien
has_related_synonym: Homo sapience
has_related_synonym: Homo sapiense
has_related_synonym: Homo sapients
has_related_synonym: Homo sapines
has_related_synonym: Homo spaiens
has_related_synonym: Homo spiens
has_related_synonym: Humo sapiens
from pub med: true

Axiom
annotated source: Homo sapiens
annotated property: hasDefinition
annotated target: The primate species of mammal to which modern humans belong.

Rodentia
type: Class
subclass of: Mammalia
imported from: ncbitaxon.owl
has_rank: NCBITaxon order
database_cross_reference: GC_ID:1
alternative_term: rodent
has_obo_namespace: ncbi_taxonomy
has_related_synonym: rodents

Syncope with High Risk Cardiac Characteristics
type: Class
subclass of: Syncope
definition: A sudden loss of consciousness with loss of postural tone not related to anesthesia with high risk characteristics. High risk characteristics include non-ischemic dilated cardiomyopathy, or ischemic heart disease with significant ventricular dysfunction, hypertrophic cardiomyopathy, Brugada Syndrome, or Long QT Syndrome. (ACC)
imported from: ncit.owl
code: C100018
Semantic_Type: Finding
Preferred_Name: Syncope with High Risk Cardiac Characteristics
UMLS_CUI: C3272263
Contributing_Source: CDISC
ALT_DEFINITION: A sudden loss of consciousness with loss of postural tone not related to anesthesia with high risk characteristics. High risk characteristics include non-ischemic dilated cardiomyopathy, or ischemic heart disease with significant ventricular dysfunction, hypertrophic cardiomyopathy, Brugada Syndrome, or Long QT Syndrome.
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/23190285
alternative_term: SYNCOPE WITH HIGH RISK CHARACTERISTICS
alternative_term: Syncope with High Risk Cardiac Characteristics
has_related_synonym: cardiac syncope
in subset: NCIT C101859
in subset: NCIT C61410
in subset: NCIT C66830
from ILAE: true
from pub med: true

Neonatal Injury Related to Birth
type: Class
subclass of: injury
definition: An injury sustained to a neonate during the birthing process.
imported from: ncit.owl
code: C101035
Semantic_Type: Finding
Preferred_Name: Neonatal Injury Related to Birth
UMLS_CUI: C0005604
Contributing_Source: CPTAC
Contributing_Source: NICHD
ALT_DEFINITION: Injury to a newborn incurred during labor and delivery.
NICHD_Hierarchy_Term: Birth Injury
alternative_term: Birth Injury
alternative_term: Birth Trauma
alternative_term: Neonatal Birth Injury
alternative_term: Neonatal Injury Related to Birth
in subset: NCIT C118466
in subset: NCIT C156952
in subset: NCIT C158035
in subset: NCIT C158520
in subset: NCIT C90259
in subset: NCIT C99147

European Quality of Life Five Dimension Five Level Scale Questionnaire
type: Class
subclass of: Clinical or Research Assessment Questionnaire
definition: A standardized rating scale which is used as a measure of health outcome. This instrument is a descriptive system consisting of 5 dimensions: mobility, self-care, usual activity, pain/discomfort, and anxiety/depression. Each dimension has 5 levels ranging from no problem to extreme problem or incapable, which are assessed by the patient.
imported from: ncit.owl
code: C102117
Semantic_Type: Intellectual Product
Preferred_Name: European Quality of Life Five Dimension Five Level Scale Questionnaire
UMLS_CUI: C3640517
Contributing_Source: CDISC
ALT_DEFINITION: European Quality of Life Five Dimension Five Level Scale (EQ-5D-5L) (Copyright 2009 EuroQol Group. EQ-5D is a trade mark of the EuroQol Group).
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/24679945
alternative_term: EQ-5D-5L
alternative_term: EQ5D02
alternative_term: European Quality of Life Five Dimension Five Level Scale Questionnaire
in subset: NCIT C100110
in subset: NCIT C100129
in subset: NCIT C120166
in subset: NCIT C61410
in subset: NCIT C66830
from pub med: true

Short Form 36 Health Survey Standard, US Version 2.0 Questionnaire
type: Class
subclass of: Clinical or Research Assessment Questionnaire
definition: A standardized, multipurpose, general health survey developed by John E. Ware and copyrighted by Quality Metric Inc. and the Medical Outcomes Trust in 1996 and 2000 which is used to assess the patient's functional health and overall well-being. This second version contains 36 questions that refer to the patient's symptoms or status within the past four weeks and can be completed by the patient. For each question the patient must choose from five different responses.
imported from: ncit.owl
code: C102122
Semantic_Type: Intellectual Product
Preferred_Name: Short Form 36 Health Survey Standard, US Version 2.0 Questionnaire
UMLS_CUI: C3640521
Contributing_Source: CDISC
ALT_DEFINITION: The Short Form 36 Health Survey Standard, US Version 2.0 (SF36 v2.0 Standard) (copyright 1996, 2000 by Quality Metric Incorporated and Medical Outcomes Trust. All rights reserved).
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/22512895
alternative_term: Medical Outcomes Survey 36-Item Short-Form Health Survey
alternative_term: SF36 V2.0 STANDARD
alternative_term: SF36 v2.0 Standard
alternative_term: SF363
alternative_term: Short Form 36 Health Survey
alternative_term: Short Form 36 Health Survey Standard, US Version 2.0 Questionnaire
in subset: NCIT C100110
in subset: NCIT C100129
in subset: NCIT C120166
in subset: NCIT C61410
in subset: NCIT C66830
from pub med: true

Epworth Sleepiness Scale Questionnaire
type: Class
subclass of: Clinical or Research Assessment Questionnaire
definition: A standardized rating scale used to assess an individual's general level of daytime sleepiness.
imported from: ncit.owl
code: C103517
Semantic_Type: Intellectual Product
Preferred_Name: Epworth Sleepiness Scale Questionnaire
UMLS_CUI: C3541276
Contributing_Source: CDISC
ALT_DEFINITION: Epworth Sleepiness Scale (ESS) (copyright Murray W. Johns, 1990-1997. All rights reserved.).
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/11081816
alternative_term: ESS
alternative_term: ESS01
alternative_term: Epworth Sleepiness Scale
alternative_term: Epworth Sleepiness Scale Questionnaire
in subset: NCIT C100110
in subset: NCIT C100129
in subset: NCIT C120166
in subset: NCIT C61410
in subset: NCIT C66830
from pub med: true

Generalized Anxiety Disorder - 7 Questionnaire
type: Class
subclass of: Clinical or Research Assessment Questionnaire
definition: A seven item validated, self-reported questionnaire for screening, and assessing the severity of generalized anxiety disorder in clinical practice and research settings.
imported from: ncit.owl
code: C103519
Semantic_Type: Intellectual Product
Preferred_Name: Generalized Anxiety Disorder - 7 Questionnaire
UMLS_CUI: C3641330
Contributing_Source: CDISC
ALT_DEFINITION: Generalized Anxiety Disorder - 7 (GAD-7) (Spitzer RL, Kroenke K, Williams JBW, Lowe B. A brief measure for assessing generalized anxiety disorder: The GAD-7. Arch Intern Med 2006; 166:1092-1097).
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28064112
alternative_term: GAD-7
alternative_term: GAD01
alternative_term: General Anxiety Disorder-7
alternative_term: General Anxiety Disorder-7 Questionnaire
alternative_term: Generalized Anxiety Disorder - 7 Questionnaire
alternative_term: Generalized Anxiety Disorder 7-item Scale (GAD-7)
in subset: NCIT C100110
in subset: NCIT C100129
in subset: NCIT C120166
in subset: NCIT C61410
in subset: NCIT C66830
from pub med: true

Hospital Anxiety and Depression Scale Questionnaire
type: Class
subclass of: Clinical or Research Assessment Questionnaire
definition: A standardized survey developed and copyrighted by A. S. Zigmond and R. P. Snaith in 1983, 1992, 1994 and published in the Acta Psychiatrica Scandinavica journal (A.S. Zigmond and R.P. Snaith. The Hospital Anxiety and Depression Scale. Acta psychiart. scand. 1983, 67:361-370) which is used to detect depression and anxiety in individuals in a hospital or medical outpatient clinic. This instrument is a self-administered questionnaire consisting of 14 items that assess how the individual has felt over the past week. Each item as 4 response options that are associated with a score of 0 to 3.
imported from: ncit.owl
code: C103520
Semantic_Type: Intellectual Product
Preferred_Name: Hospital Anxiety and Depression Scale Questionnaire
UMLS_CUI: C3539657
Contributing_Source: CDISC
ALT_DEFINITION: Hospital Anxiety and Depression Scale (HADS) (copyright 1983, 1992, 1994 by R.P. Snaith and A.S. Zigmond. All rights reserved.).
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30599368
alternative_term: HADS
alternative_term: HADS Questionnaire
alternative_term: HADS01
alternative_term: Hospital Anxiety and Depression Scale Questionnaire
alternative_term: Hospital Anxiety and Depression Scale Questionnaire (HADS)
in subset: NCIT C100110
in subset: NCIT C100129
in subset: NCIT C120166
in subset: NCIT C61410
in subset: NCIT C66830
from pub med: true

Patient Health Questionnaire - 9 Item
type: Class
subclass of: Clinical or Research Assessment Questionnaire
definition: A 9-item scale using each of the 9 DSM-IV criteria with self-reported frequency of "0" (not at all) to "3" (nearly every day). One of the most widely used instruments to assess depression, PHQ-9 scores of 5, 10, 15, and 20 represent mild, moderate, moderately severe, and severe depression, respectively.
imported from: ncit.owl
code: C103526
Semantic_Type: Intellectual Product
Preferred_Name: Patient Health Questionnaire - 9 Item
UMLS_CUI: C4083201
Contributing_Source: CDISC
ALT_DEFINITION: Patient Health Questionnaire - 9 (PHQ-9) (Kroenke K, Spitzer RL, Williams JBW. The PHQ-9: Validity of a brief depression severity measure. J Gen Intern Med 2001; 16:606-613).
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/31026785
alternative_term: PHQ-9
alternative_term: PHQ01
alternative_term: Patient Health Questionnaire (PHQ-9)
alternative_term: Patient Health Questionnaire - 9 Item
alternative_term: Patient Health Questionnaire-9
in subset: NCIT C100110
in subset: NCIT C100129
in subset: NCIT C120166
in subset: NCIT C61410
in subset: NCIT C66830
from pub med: true

Pittsburgh Sleep Quality Index
type: Class
subclass of: Research or Clinical Assessment Tool
definition: A self-rated questionnaire which assesses sleep quality and disturbances over a one month time interval.
imported from: ncit.owl
code: C103849
Semantic_Type: Intellectual Product
Preferred_Name: Pittsburgh Sleep Quality Index
UMLS_CUI: C3697468
ALT_DEFINITION: Pittsburgh Sleep Quality Index (PSQI) (Copyright 1989, University of Pittsburgh. Buysse,D.J., Reynolds,C.F., Monk,T.H., Berman,S.R., & Kupfer, D.J. The Pittsburgh Sleep Quality Index (PSQI): A new instrument for psychiatric practice and research. Psychiatry Research, 1989, 28(2):193-213).
DesignNote: Authors: Buysse,D.J., Reynolds,C.F., Monk,T.H., Berman,S.R., & Kupfer,D.J. (1989).
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26921599
alternative_term: PSQI
alternative_term: PSQI1
alternative_term: Pittsburgh Sleep Quality Index
alternative_term: Pittsburgh Sleep Quality Index (PSQI) SF-10
in subset: NCIT C100110
in subset: NCIT C100129
in subset: NCIT C120166
in subset: NCIT C61410
in subset: NCIT C66830
from pub med: true

Treatment Satisfaction Questionnaire for Medication
type: Class
subclass of: Clinical or Research Assessment Questionnaire
definition: A 9 question subset of the Treatment Satisfaction Questionnaire for Medication that omits the five items of the side effects domain.
imported from: ncit.owl
code: C107543
Semantic_Type: Intellectual Product
Preferred_Name: Treatment Satisfaction Questionnaire for Medication
UMLS_CUI: C3827778
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/21576040
alternative_term: TSQM-9
alternative_term: Treatment Satisfaction Questionnaire for Medication
alternative_term: Treatment Satisfaction Questionnaire for Medication (TSQM-9)
from pub med: true

Ghrelin Measurement
type: Class
subclass of: Hormone Measurement
definition: The determination of the amount of ghrelin present in a sample.
imported from: ncit.owl
Related_To_Genetic_Biomarker: NCIT C104427
code: C112286
Semantic_Type: Laboratory Procedure
Preferred_Name: Ghrelin Measurement
UMLS_CUI: C3813179
Contributing_Source: CDISC
ALT_DEFINITION: A measurement of total ghrelin in a biological specimen.
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28288363
alternative_term: GHRELIN
alternative_term: Ghrelin
alternative_term: Ghrelin Measurement
alternative_term: Growth Hormone Secretagogue Receptor Ligand
alternative_term: Motilin-related Peptide
alternative_term: Total Ghrelin
in subset: NCIT C61410
in subset: NCIT C65047
in subset: NCIT C66830
in subset: NCIT C67154
in subset: NCIT C77526
from pub med: true

Have Feeling of Fullness or Heaviness in Stomach Area
type: Class
subclass of: digestive system symptom
definition: A question about whether an individual has or had a feeling of fullness or heaviness in the area of the stomach.
imported from: ncit.owl
code: C113191
Semantic_Type: Intellectual Product
Preferred_Name: Have Feeling of Fullness or Heaviness in Stomach Area
UMLS_CUI: C3829801
alternative_term: Have Feeling of Fullness or Heaviness in Stomach Area
alternative_term: I have a feeling of fullness or heaviness in my stomach area
in subset: NCIT C113185
from ESSO: true

Dialysis Disequilibrium Syndrome
type: Class
subclass of: syndrome
definition: A complication occurring during hemodialysis that is thought to be due to a rapid decrease in blood urea nitrogen, and is characterized by an increase in intracranial pressure resulting in nausea, headache, vomiting, restlessness, and/or a decreased level of consciousness.
imported from: ncit.owl
Has_NICHD_Parent: Complication
code: C114781
Semantic_Type: Disease or Syndrome
Preferred_Name: Dialysis Disequilibrium Syndrome
UMLS_CUI: C0403559
Contributing_Source: NICHD
ALT_DEFINITION: A complication occurring during hemodialysis that is thought to be due to a rapid decrease in blood urea nitrogen, and is characterized by an increase in intracranial pressure resulting in nausea, headache, vomiting, restlessness, and/or a decreased level of consciousness.
NICHD_Hierarchy_Term: Dysequilibrium Syndrome
alternative_term: Dialysis Disequilibrium Syndrome
alternative_term: Disequilibrium Syndrome
in subset: NCIT C118464
in subset: NCIT C90259
from article: true

Functional Connectivity Magnetic Resonance Imaging
type: Class
subclass of: Functional Neuroimaging
definition: A technique that monitors blood oxygen level dependent (BOLD) signals to map distant brain regions that work together while performing a task.
imported from: ncit.owl
code: C116454
Semantic_Type: Diagnostic Procedure
Display_Name: Functional Connectivity Magnetic Resonance Imaging
Preferred_Name: Functional Connectivity Magnetic Resonance Imaging
NCI_META_CUI: CL471734
Contributing_Source: CTRP
alternative_term: Functional Connectivity MRI
alternative_term: Functional Connectivity Magnetic Resonance Imaging
alternative_term: fcMRI
in subset: NCIT C116977
in subset: NCIT C118169

Diffusion Kurtosis Imaging
type: Class
subclass of: Diffusion Tensor Imaging
definition: An extension of conventional diffusion tension imaging, which estimates the kurtosis of the water diffusion probability distribution function. This technique is most commonly used to study the brain.
imported from: ncit.owl
code: C116487
Semantic_Type: Diagnostic Procedure
Display_Name: Diffusion Kurtosis Imaging
Preferred_Name: Diffusion Kurtosis Imaging
NCI_META_CUI: CL433731
Contributing_Source: CTRP
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26255305
alternative_term: DKI
alternative_term: Diffusion Kurtosis Imaging
in subset: NCIT C116977
in subset: NCIT C118169
from pub med: true

Subdural Hematoma
type: Class
subclass of: hematoma
definition: A collection of blood between the dura mater and the brain.
imported from: ncit.owl
code: C116585
Semantic_Type: Finding
Preferred_Name: Subdural Hematoma
UMLS_CUI: C0018946
Contributing_Source: MedDRA
Contributing_Source: NICHD
ALT_DEFINITION: A collection of blood into the space between the dura mater and the brain.
NICHD_Hierarchy_Term: Subdural Hematoma
Maps_To: Subdural hematoma
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/27914224
alternative_term: Subdural Hematoma
in subset: NCIT C118464
in subset: NCIT C90259
from article: true
from pub med: true

Electrocorticography
type: Class
subclass of: physiological assay
subclass of: Restriction
  some values from: epilepsy
definition: The use of electrodes placed directly on the exposed brain surface to record the electrical activity of the cerebral cortex.
imported from: ncit.owl
code: C116664
Semantic_Type: Diagnostic Procedure
Display_Name: Electrocorticography
Preferred_Name: Electrocorticography
UMLS_CUI: C0430797
Contributing_Source: CTRP
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/25204010
alternative_term: ECoG
alternative_term: Electrocorticography
alternative_term: Noachter 1999 Electrocorticography ECoG
in subset: NCIT C116977
in subset: NCIT C118169
from ESSO: true
from pub med: true

Cyclical Vomiting
type: Class
subclass of: migraine associated disorder
definition: A condition characterized by recurrent, self-limiting episodes of vomiting associated with intense nausea, pallor, and lethargy. It is commonly a migraine precursor.
imported from: ncit.owl
Has_NICHD_Parent: NCIT C3442
code: C117014
Semantic_Type: Finding
Preferred_Name: Cyclical Vomiting
UMLS_CUI: C0152164
Contributing_Source: MedDRA
Contributing_Source: NICHD
ALT_DEFINITION: A periodic syndrome that is commonly a migraine precursor and is characterized by recurrent, self-limiting episodes of vomiting associated with intense nausea, pallor, and lethargy.
NICHD_Hierarchy_Term: Cyclical Vomiting
Maps_To: Cyclic vomiting syndrome
has definition: Cyclical vomiting is characterized by stereotyped periods of recurrent vomiting which may last hours to days and may be separated by weeks during which the individual has no symptoms. It is considered a migraine variant as there is often a family history of migraine headache, though the pathophysiology is not well understood. Usually no trigger to a particular episode can be defined. Recurrent vomiting may produce physiological disturbance but awareness should not be impaired and the attacks are longer than expected in focal seizures. Episodes may begin in early childhood and evolve into abdominal migraine and then to classic migraine with headache. If the vomiting persists into adult life it remains paroxysmal but may be less cyclical in nature.
alternative_term: Cyclical Vomiting
in subset: NCIT C118464
in subset: NCIT C90259
from ILAE: true

Axiom
annotated source: Cyclical Vomiting
annotated property: hasDefinition
annotated target: Cyclical vomiting is characterized by stereotyped periods of recurrent vomiting which may last hours to days and may be separated by weeks during which the individual has no symptoms. It is considered a migraine variant as there is often a family history of migraine headache, though the pathophysiology is not well understood. Usually no trigger to a particular episode can be defined. Recurrent vomiting may produce physiological disturbance but awareness should not be impaired and the attacks are longer than expected in focal seizures. Episodes may begin in early childhood and evolve into abdominal migraine and then to classic migraine with headache. If the vomiting persists into adult life it remains paroxysmal but may be less cyclical in nature.

Gustatory Hallucination
type: Class
subclass of: sensation behavior
definition: Perception of a taste in the absence of a corresponding stimulus.
imported from: ncit.owl
Has_NICHD_Parent: NCIT C37961
code: C118177
Semantic_Type: Finding
Preferred_Name: Gustatory Hallucination
UMLS_CUI: C0233766
Contributing_Source: MedDRA
Contributing_Source: NICHD
ALT_DEFINITION: Perception of a taste in the absence of a corresponding stimulus.
NICHD_Hierarchy_Term: Gustatory Hallucination
Maps_To: Hallucination gustatory
alternative_term: Gustatory Hallucination
in subset: NCIT C118464
in subset: NCIT C90259
from ESSO: true

Micropsia
type: Class
subclass of: Abnormality of vision
definition: An alteration in visual perception that causes objects to appear smaller than their actual size.
imported from: ncit.owl
code: C118304
Semantic_Type: Finding
Preferred_Name: Micropsia
UMLS_CUI: C0233769
Contributing_Source: MedDRA
Contributing_Source: NICHD
ALT_DEFINITION: An alteration in visual perception that causes objects to appear smaller than their actual size.
NICHD_Hierarchy_Term: Micropsia
Maps_To: Micropsia
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28116304
alternative_term: Micropsia
in subset: NCIT C118464
in subset: NCIT C90259
from pub med: true

Macropsia
type: Class
subclass of: Abnormality of vision
definition: An alteration in visual perception that causes objects to appear larger than their actual size.
imported from: ncit.owl
code: C118305
Semantic_Type: Finding
Preferred_Name: Macropsia
UMLS_CUI: C0233771
Contributing_Source: MedDRA
Contributing_Source: NICHD
ALT_DEFINITION: An alteration in visual perception that causes objects to appear larger than their actual size.
NICHD_Hierarchy_Term: Macropsia
Maps_To: Macropsia
alternative_term: Macropsia
in subset: NCIT C118464
in subset: NCIT C90259
from article: true
from ESSO: true

Neonatal Seizure
type: Class
subclass of: seizure
definition: Abnormal hypersynchronous electrical activity in the brain of a newborn which may be associated with stereotyped movements or autonomic changes.
imported from: ncit.owl
code: C118507
Semantic_Type: Finding
Preferred_Name: Neonatal Seizure
UMLS_CUI: C0159020
Contributing_Source: NICHD
ALT_DEFINITION: Abnormal hypersynchronous electrical activity in the brain of a newborn infant which may be associated with stereotyped movements or autonomic changes.
NICHD_Hierarchy_Term: Neonatal Seizure
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK2599/
alternative_term: Neonatal Seizure
in subset: NCIT C118466
in subset: NCIT C90259
from article: true
from NCBI book: true

Monocular Diplopia
type: Class
subclass of: Abnormality of vision
definition: Perception of more than one image when viewing with one eye.
imported from: ncit.owl
Has_NICHD_Parent: NCIT C37941
code: C118719
Semantic_Type: Finding
Preferred_Name: Monocular Diplopia
UMLS_CUI: C0271190
Contributing_Source: MedDRA
Contributing_Source: NICHD
ALT_DEFINITION: Perception of more than one image when viewing with one eye.
NICHD_Hierarchy_Term: Monocular Diplopia
Maps_To: Monocular diplopia
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/31914330
alternative_term: Monocular Diplopia
in subset: NCIT C118464
in subset: NCIT C90259
from ESSO: true
from pub med: true

Word Pairs Delayed
type: Class
subclass of: Research or Clinical Assessment Tool
definition: A component of the Children's Memory Scale. A child is read a list of paired words and then asked to say the second word after being told the first. The list is presented three times in this fashion. After about 30 minutes the child is given the cued recall trial again.
imported from: ncit.owl
code: C120333
Semantic_Type: Intellectual Product
Preferred_Name: Word Pairs Delayed
UMLS_CUI: C3897165
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26874864
alternative_term: Word Pairs Delayed
in subset: NCIT C120253
from article: true
from pub med: true

Logical Memory I Subtest (WMS-IV)
type: Class
subclass of: Research or Clinical Assessment Tool
definition: A subtest of the Wechsler Memory Scale, 4th Edition that assesses narrative memory under a free recall condition. A short story is presented orally. Immediately after presentation of the story the subject is asked to recall the story from memory.
imported from: ncit.owl
code: C120342
Semantic_Type: Intellectual Product
Preferred_Name: Logical Memory I Subtest (WMS-IV)
UMLS_CUI: C4027321
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26874864
alternative_term: Logical Memory I
alternative_term: Logical Memory I Subtest (WMS-IV)
alternative_term: WMS-IV Logical Memory
alternative_term: WMS-IV Logical Memory I
in subset: NCIT C120258
from pub med: true

Occupational Therapy
type: Class
subclass of: Supportive Care
definition: Interventions and exercises intended to develop, recover, or maintain the ability of an individual to accomplish their activities of daily living.
imported from: ncit.owl
code: C121351
Semantic_Type: Therapeutic or Preventive Procedure
Display_Name: Occupational Therapy
Preferred_Name: Occupational Therapy
UMLS_CUI: C1318464
Contributing_Source: CTRP
Contributing_Source: NICHD
ALT_DEFINITION: Interventions and exercises intended to develop, recover, or maintain the ability of an individual to accomplish their activities of daily living.
NICHD_Hierarchy_Term: Occupational Therapy
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/23941480
alternative_term: OT
alternative_term: Occupational Therapy
in subset: NCIT C116977
in subset: NCIT C118169
in subset: NCIT C118468
in subset: NCIT C90259
from article: true
from pub med: true

Behavior Rating Inventory of Executive Function
type: Class
subclass of: Research or Clinical Assessment Tool
definition: A standardized rating scale designed to assess the executive function behaviors in the school and home environments for children and adolescents as observed by a parent or teacher.
imported from: ncit.owl
code: C121459
Semantic_Type: Intellectual Product
Preferred_Name: Behavior Rating Inventory of Executive Function
UMLS_CUI: C4050216
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/31461681
alternative_term: BRIEF
alternative_term: Behavior Rating Inventory of Executive Function
alternative_term: Behavior Rating Inventory of Executive Function (BRIEF)
alternative_term: Behavioral Rating Inventory of Executive Functions
from pub med: true

Montreal Cognitive Assessment Functional Test
type: Class
subclass of: Research or Clinical Assessment Tool
definition: A standardized rating scale developed by Ziad Nasreddine in 1996 to screen for mild cognitive dysfunction and impairment. This instrument assesses the following cognitive domains: attention and concentration, executive functions, memory, language, visuoconstructional skills, conceptual thinking, calculations, and orientation.
imported from: ncit.owl
code: C123667
Semantic_Type: Intellectual Product
Preferred_Name: Montreal Cognitive Assessment Functional Test
UMLS_CUI: C3496286
Contributing_Source: CDISC
ALT_DEFINITION: Montreal Cognitive Assessment (MoCA) (Copyright Z. Nasreddine MD. Ziad S. Nasreddine, Natalie A. Phillips, Valerie Bedirian, Simon Charbonneau, Victor Whitehead, Isabelle Collin, Jeffrey L. Cummings and Howard Chertkow. The Montreal Cognitive Assessment, MoCA: A Brief Screening Tool For Mild Cognitive Impairment. J Am Geriatr Soc. 2005 Apr;53(4):695-9).
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/22258041
alternative_term: MOCA
alternative_term: MOCA01
alternative_term: Montreal Cognitive Assessment
alternative_term: Montreal Cognitive Assessment Functional Test
in subset: NCIT C115302
in subset: NCIT C115304
in subset: NCIT C120166
in subset: NCIT C61410
in subset: NCIT C66830
from pub med: true

Continuous Positive Airway Pressure
type: Class
subclass of: therapeutic procedure
definition: A form of non-invasive mechanical pressure support ventilation that uses a continuous positive airway pressure level to support spontaneous breathing activity.
imported from: ncit.owl
code: C124040
Semantic_Type: Therapeutic or Preventive Procedure
Display_Name: Continuous Positive Airway Pressure
Preferred_Name: Continuous Positive Airway Pressure
UMLS_CUI: C0199451
Contributing_Source: CTRP
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/21849000
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29991426
alternative_term: CPAP
alternative_term: Continuous Positive Airway Pressure
alternative_term: Continuous positive airway pressure (CPAP)
in subset: NCIT C116977
in subset: NCIT C118169
from pub med: true

WHO Grade III Glioma
type: Class
subclass of: malignant glioma
definition: A group of malignant gliomas that includes anaplastic astrocytoma, anaplastic oligodendroglioma, anaplastic oligoastrocytoma, and anaplastic ependymoma.
imported from: ncit.owl
code: C127816
Semantic_Type: Neoplastic Process
Display_Name: WHO Grade III Glioma
Preferred_Name: WHO Grade III Glioma
NCI_META_CUI: CL509578
Contributing_Source: CTRP
Neoplastic_Status: Malignant
alternative_term: Anaplastic Glioma
alternative_term: WHO Grade III Glioma
in subset: NCIT C116977
in subset: NCIT C118168

Pre-operative Evaluation
type: Class
subclass of: planned process
definition: An examination of an individual to determine their health status prior to a surgical procedure and their suitability for the procedure.
imported from: ncit.owl
code: C139982
Semantic_Type: Research Activity
Preferred_Name: Pre-operative Evaluation
UMLS_CUI: C1293091
Contributing_Source: NCCN
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/27101469
alternative_term: Pre-operative Evaluation
alternative_term: Preoperative Evaluation
alternative_term: pre-surgical evaluation
from pub med: true

Biofeedback
type: Class
subclass of: Psychotherapy
definition: A training technique in which various bodily functions, such as heart rate, skin temperature, muscle tension, and brain activity are monitored so that people can learn to control them voluntarily so as to improve their health and physical performance.
imported from: ncit.owl
code: C15186
Semantic_Type: Mental Process
Display_Name: Biofeedback
Preferred_Name: Biofeedback
UMLS_CUI: C0005491
Contributing_Source: CTRP
Legacy Concept Name: Biofeedback
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30819542
alternative_term: Biofeedback
alternative_term: biofeedback
in subset: NCIT C116977
in subset: NCIT C118169
from pub med: true

Lobectomy
type: Class
subclass of: surgical procedure
definition: Surgical removal of a lobe of an organ.
imported from: ncit.owl
code: C15272
Semantic_Type: Therapeutic or Preventive Procedure
Display_Name: Lobectomy
Preferred_Name: Lobectomy
UMLS_CUI: C0023928
Contributing_Source: CTRP
ALT_DEFINITION: Surgery to remove a whole lobe (section) of an organ (such as the lungs, liver, brain, or thyroid gland).
Legacy Concept Name: Lobectomy
Maps_To: Lobectomy
alternative_term: Lobectomy
alternative_term: lobectomy
in subset: NCIT C116977
in subset: NCIT C118169
from article: true

Psychotherapy
type: Class
subclass of: therapeutic procedure
definition: A method of treating disease, esp. psychic disorders, by mental rather than pharmacological means (e.g., suggestion, re-education, hypnotism, and psychoanalysis). (Taber's)
imported from: ncit.owl
code: C15308
Semantic_Type: Therapeutic or Preventive Procedure
Display_Name: Psychotherapy
Preferred_Name: Psychotherapy
UMLS_CUI: C0033968
Contributing_Source: CTRP
ALT_DEFINITION: Treatment of mental, emotional, personality, and behavioral disorders using methods such as discussion, listening, and counseling.
Legacy Concept Name: Psychotherapy
alternative_term: Psychotherapy
alternative_term: psychotherapy
alternative_term: talk therapy
in subset: NCIT C116977
in subset: NCIT C118169

Rehabilitation
type: Class
subclass of: Supportive Care
definition: Restoration of the ability to function in a normal or near normal manner following disease, illness, or injury.
imported from: ncit.owl
code: C15315
Semantic_Type: Therapeutic or Preventive Procedure
Display_Name: Rehabilitation
Preferred_Name: Rehabilitation
UMLS_CUI: C0034991
Contributing_Source: CTRP
ALT_DEFINITION: In medicine, a process to restore mental and/or physical abilities lost to injury or disease, in order to function in a normal or near-normal way.
Legacy Concept Name: Rehabilitation
alternative_term: Physical Health Services / Rehabilitation
alternative_term: Rehabilitation
alternative_term: Rehabilitation, Medical
alternative_term: rehabilitation
alternative_term: rehabilitation therapy
in subset: NCIT C116977
in subset: NCIT C118169
from article: true

Salvage Therapy
type: Class
subclass of: therapeutic procedure
definition: Performing a salvage procedure is the last resort. The clinical situation involves either ongoing life support measures, life support measures for more than 60 seconds during the prior 10 minutes, or unanticipated institution of extracorporeal circulatory support. (ACC)
imported from: ncit.owl
code: C15359
Semantic_Type: Therapeutic or Preventive Procedure
Display_Name: Salvage Therapy
Preferred_Name: Salvage Therapy
UMLS_CUI: C0085405
Contributing_Source: CDISC
Contributing_Source: CPTAC
Contributing_Source: CTRP
ALT_DEFINITION: Performing a salvage procedure is the last resort. The clinical situation involves either ongoing life support measures, life support measures for more than 60 seconds during the prior 10 minutes, or unanticipated institution of extracorporeal circulatory support.
ALT_DEFINITION: Treatment that is given after the cancer has not responded to other treatments.
Legacy Concept Name: Salvage_Therapy
alternative_term: SALVAGE
alternative_term: Salvage
alternative_term: Salvage Therapy
alternative_term: salvage therapy
has_related_synonym: Rescue treatments
in subset: NCIT C101856
in subset: NCIT C116977
in subset: NCIT C118169
in subset: NCIT C156952
in subset: NCIT C156953
in subset: NCIT C159328
in subset: NCIT C159336
in subset: NCIT C159338
in subset: NCIT C159339
in subset: NCIT C61410
in subset: NCIT C66830
from article: true

Hypnotherapy
type: Class
subclass of: Psychotherapy
definition: Therapeutic use of hypnotism by a clinical professional.
imported from: ncit.owl
code: C15420
Semantic_Type: Mental Process
Display_Name: Hypnotherapy
Preferred_Name: Hypnotherapy
UMLS_CUI: C0020587
Contributing_Source: CPTAC
Contributing_Source: CTRP
Legacy Concept Name: Hypnotherapy
alternative_term: Clinical Hypnosis
alternative_term: Hypnosis
alternative_term: Hypnotherapy
in subset: NCIT C116977
in subset: NCIT C118169
in subset: NCIT C156952
in subset: NCIT C158037
in subset: NCIT C158520
from article: true

Gamma-Aminobutyric Acid Measurement
type: Class
subclass of: neurotransmitter levels
definition: The determination of the amount of gamma-aminobutyric acid present in a sample.
imported from: ncit.owl
code: C154766
Semantic_Type: Laboratory Procedure
Preferred_Name: Gamma-Aminobutyric Acid Measurement
NCI_META_CUI: CL555601
Contributing_Source: CDISC
ALT_DEFINITION: A measurement of the gamma-aminobutyric acid in a biological specimen.
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/20345933
alternative_term: GABA
alternative_term: GAMBTAC
alternative_term: Gamma-Aminobutyric Acid
alternative_term: Gamma-Aminobutyric Acid Measurement
alternative_term: Gamma-aminobutyrate
alternative_term: γ-aminobutyric acid (GABA) levels
in subset: NCIT C61410
in subset: NCIT C65047
in subset: NCIT C66830
in subset: NCIT C67154
in subset: NCIT C77526
from pub med: true

Supportive Care
type: Class
subclass of: therapeutic procedure
definition: Supportive care is that which helps the patient and their family to cope with cancer and treatment of it from pre-diagnosis, through the process of diagnosis and treatment, to cure, continuing illness or death and into bereavement. It helps the patient to maximize the benefits of treatment and to live as well as possible with the effects of the disease. Supportive therapy may provide a patient with friendship, encouragement, practical advice such as access to community resources or how to develop a more active social life, vocational counseling, suggestions for minimizing friction with family members, and, above all, hope that the life of the patient may be improved. In all situations, supportive therapy involves the teaching of such life skills as managing medication, learning to socialize, handling finances, and getting a job.
imported from: ncit.owl
code: C15747
Semantic_Type: Therapeutic or Preventive Procedure
Display_Name: Supportive Care
Preferred_Name: Supportive Care
UMLS_CUI: C0344211
Contributing_Source: CDISC
Contributing_Source: CTRP
ALT_DEFINITION: Any action or process to maximize comfort, minimize side effects, or mitigate against a decline in the participant's health or function. (clinicaltrials.gov)
Legacy Concept Name: Supportive_Care
alternative_term: Supportive Care
alternative_term: Supportive Therapy
alternative_term: Symptom Management
alternative_term: Therapy, Supportive
alternative_term: supportive care
in subset: NCIT C116977
in subset: NCIT C118169
in subset: NCIT C132298
in subset: NCIT C147067
in subset: NCIT C61410

Complication due to Medical/Surgical Care
type: Class
subclass of: Complication
imported from: ncit.owl
code: C157609
Semantic_Type: Finding
Preferred_Name: Complication due to Medical/Surgical Care
NCI_META_CUI: CL937198
Contributing_Source: CPTAC
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/24861650
alternative_term: Complication due to Medical/Surgical Care
has_related_synonym: complications of epilepsy surgery
in subset: NCIT C156952
in subset: NCIT C158034
in subset: NCIT C158520
from pub med: true

Pharmacotherapy
type: Class
subclass of: therapeutic procedure
definition: Treatment of disease through the use of drugs.
imported from: ncit.owl
code: C15986
Semantic_Type: Therapeutic or Preventive Procedure
Preferred_Name: Pharmacotherapy
UMLS_CUI: C0013216
Contributing_Source: CPTAC
Contributing_Source: NICHD
ALT_DEFINITION: Treatment with any substance, other than food, that is used to prevent, diagnose, treat, or relieve symptoms of a disease or abnormal condition.
Legacy Concept Name: Pharmacological_Treatment
NICHD_Hierarchy_Term: Drug Therapy
Maps_To: Pharmaceutical Therapy, NOS
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29140112
alternative_term: Drug Therapy
alternative_term: Pharmaceutical Therapy
alternative_term: Pharmacological Treatment
alternative_term: Pharmacological Treatments
alternative_term: Pharmacotherapy
alternative_term: Treatment With Medication
alternative_term: drug therapy
in subset: NCIT C156952
in subset: NCIT C158037
in subset: NCIT C158520
in subset: NCIT C90259
from pub med: true

Follow-Up
type: Class
subclass of: planned process
definition: The process by which information about the health status of an individual is obtained after a study has officially closed; an activity that continues something that has already begun or that repeats something that has already been done.
imported from: ncit.owl
code: C16033
Semantic_Type: Health Care Activity
Preferred_Name: Follow-Up
UMLS_CUI: C1522577
Contributing_Source: CDISC
ALT_DEFINITION: Monitoring a person's health over time after treatment. This includes keeping track of the health of people who participate in a clinical study or clinical trial for a period of time, both during the study and after the study ends.
ALT_DEFINITION: The process by which information about the health status of a subject is obtained after the subject is no longer receiving study medication.
Legacy Concept Name: Follow-up
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/27091679
alternative_term: Active Follow-up
alternative_term: CLSFUP
alternative_term: Clinical Signs Follow-up
alternative_term: Follow Up
alternative_term: Follow-Up
alternative_term: Follow-up
alternative_term: Followup
alternative_term: follow-up
in subset: NCIT C61410
in subset: NCIT C77526
in subset: NCIT C89971
in subset: NCIT C89972
from pub med: true

Executive Function Disorder
type: Class
subclass of: cognitive disorder
definition: Cognitive, emotional, and behavioral difficulties that often occur in conjunction with frontal lobe disorders, including traumatic injury and dementia. It is also a feature of attention deficit disorder and other non-trauma-induced conditions.
imported from: ncit.owl
code: C160587
Semantic_Type: Mental or Behavioral Dysfunction
Display_Name: Executive Function Disorder
Preferred_Name: Executive Function Disorder
Contributing_Source: CTRP
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30909075
alternative_term: EFD
alternative_term: Executive Dysfunction
alternative_term: Executive Function Disorder
alternative_term: Executive Functioning Deficit
alternative_term: Impairment of Executive Functions
in subset: NCIT C116977
in subset: NCIT C118168
from pub med: true

Surgical Procedure by Type
type: Class
subclass of: surgical procedure
definition: A categorization of surgical procedures by type or purpose.
imported from: ncit.owl
code: C161601
Semantic_Type: Health Care Activity
Preferred_Name: Surgical Procedure by Type
alternative_term: Surgical Procedure by Type

7 Tesla Magnetic Resonance Imaging
type: Class
subclass of: magnetic resonance imaging
definition: MRI that uses a magnet capable of producing a 7 telsa field strength. This increased magnet strength is can produce images with greater signal-to-noise ratio and increased spatial resolution, or faster imaging at standard resolution.
imported from: ncit.owl
code: C162646
Semantic_Type: Diagnostic Procedure
Display_Name: 7 Tesla Magnetic Resonance Imaging
Preferred_Name: 7 Tesla Magnetic Resonance Imaging
Contributing_Source: CTRP
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28324301
alternative_term: 7 Tesla (7 T) MRI
alternative_term: 7 Tesla MRI
alternative_term: 7 Tesla Magnetic Resonance Imaging
alternative_term: 7T MRI
in subset: NCIT C116977
in subset: NCIT C118169
from pub med: true

Body Mass Index
type: Class
subclass of: Personal Attribute
definition: An individual's weight in kilograms divided by the square of the height in meters.
imported from: ncit.owl
code: C16358
Semantic_Type: Clinical Attribute
Preferred_Name: Body Mass Index
UMLS_CUI: C1305855
Contributing_Source: CDISC
Contributing_Source: CPTAC
Contributing_Source: NCPDP
ALT_DEFINITION: A general indicator of the body fat an individual is carrying based upon the ratio of weight to height. (NCI)
ALT_DEFINITION: A measure that relates body weight to height. BMI is sometimes used to measure total body fat and whether a person is a healthy weight. Excess body fat is linked to an increased risk of some diseases including heart disease and some cancers.
Legacy Concept Name: Body_Mass_Index
alternative_term: BMI
alternative_term: Body Mass Index
alternative_term: Quetelet Index
alternative_term: body mass index
in subset: NCIT C156952
in subset: NCIT C156953
in subset: NCIT C156954
in subset: NCIT C61410
in subset: NCIT C66741
in subset: NCIT C66830
in subset: NCIT C67153
in subset: NCIT C77526
in subset: NCIT C89415
in subset: NCIT C91101
from ESSO: true

Etiology
type: Class
subclass of: International League Against Epilepsy classification
subclass of: Restriction
  on property: isEtiologyFor
  some values from: epilepsy
definition: The cause of a disease or abnormal condition.
imported from: ncit.owl
code: C16390
Semantic_Type: Conceptual Entity
Preferred_Name: Etiology
UMLS_CUI: C1314792
ALT_DEFINITION: The cause or origin of disease.
Legacy Concept Name: Etiology
has definition: In recent years there has been a significant expansion in our understanding of the underlying etiologies of the epilepsies, underpinned by advances in modern neuroimaging and genetic testing. As such terminology such as 'idiopathic', 'cryptogenic' and 'symptomatic' are no longer used. Epilepsies are now described more precisely by their specific underlying etiologies.
alternative_term: Causation
alternative_term: Cause
alternative_term: Etiology
alternative_term: etiology
has_related_synonym: Epilepsy etiologies
from ILAE: true

Axiom
annotated source: Etiology
annotated property: hasDefinition
annotated target: In recent years there has been a significant expansion in our understanding of the underlying etiologies of the epilepsies, underpinned by advances in modern neuroimaging and genetic testing. As such terminology such as 'idiopathic', 'cryptogenic' and 'symptomatic' are no longer used. Epilepsies are now described more precisely by their specific underlying etiologies.

Magnetoencephalography
type: Class
subclass of: imaging technique
subclass of: Restriction
  on property: isDiagnosisFor
  some values from: epilepsy
definition: The measurement of the magnetic fields produced by electrical activity in the brain, usually conducted externally, using extremely sensitive devices. The measurement of electric fields in the brain provides information about the localization of brain activity which is complementary to that provided by electroencephalography.
imported from: ncit.owl
code: C16811
Semantic_Type: Diagnostic Procedure
Display_Name: Magnetoencephalography
Preferred_Name: Magnetoencephalography
UMLS_CUI: C0024489
Contributing_Source: CTRP
Legacy Concept Name: Magnetoencephalography
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/15281961
alternative_term: MEG
alternative_term: Magnetoencephalography
in subset: NCIT C116977
in subset: NCIT C118169
from EPILONT: true
from ESSO: true
from pub med: true

Model
type: Class
subclass of: information content entity
definition: A representation of something, often idealized or modified to make it conceptually easier to understand.
imported from: ncit.owl
code: C16866
Semantic_Type: Intellectual Product
Preferred_Name: Model
UMLS_CUI: C3161035
Contributing_Source: CDISC-GLOSS
ALT_DEFINITION: A formal structure for representing and analyzing a process such as a clinical trial or the information pertaining to a restricted context (e.g., clinical trial data). [CDISC]
Legacy Concept Name: Model_System
alternative_term: Model
alternative_term: Model System
alternative_term: Modeling System
alternative_term: Models
alternative_term: model
in subset: NCIT C61410
in subset: NCIT C67497

Risk Factor
type: Class
subclass of: disposition
subclass of: Restriction
  on property: isRiskFactorFor
  some values from: epilepsy
definition: Any aspect of an individual's life, behavior, an environmental exposure, or an inborn or inherited characteristic that increases the likelihood of a disease, condition or injury.
imported from: ncit.owl
code: C17103
Semantic_Type: Clinical Attribute
Preferred_Name: Risk Factor
UMLS_CUI: C0035648
ALT_DEFINITION: Something that increases the chance of developing a disease. Some examples of risk factors for cancer are age, a family history of certain cancers, use of tobacco products, being exposed to radiation or certain chemicals, infection with certain viruses or bacteria, and certain genetic changes.
Legacy Concept Name: Risk_Factor
alternative_term: Risk Factor
alternative_term: risk factor

Computed Tomography
type: Class
subclass of: imaging technique
definition: A method of examining structures within the body by scanning them with X rays and using a computer to construct a series of cross-sectional scans along a single axis.
imported from: ncit.owl
code: C17204
Semantic_Type: Diagnostic Procedure
Display_Name: Computed Tomography
Preferred_Name: Computed Tomography
UMLS_CUI: C0040405
Contributing_Source: CDISC
Contributing_Source: CTRP
Contributing_Source: FDA
ALT_DEFINITION: A series of detailed pictures of areas inside the body; the pictures are created by a computer linked to an x-ray machine.
ALT_DEFINITION: An imaging technique for examining structures within the body by scanning them with X rays and using a computer to construct a series of cross-sectional scans along a single axis.
Legacy Concept Name: Computed_Tomography
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/
alternative_term: CAT
alternative_term: CAT Scan
alternative_term: CAT scan
alternative_term: CT
alternative_term: CT SCAN
alternative_term: CT scan
alternative_term: Computed Tomography
alternative_term: Computerized Axial Tomography
alternative_term: Computerized Tomography
alternative_term: computed tomography
alternative_term: computerized axial tomography
alternative_term: computerized tomography
alternative_term: tomography
in subset: NCIT C101858
in subset: NCIT C116977
in subset: NCIT C118169
in subset: NCIT C61410
in subset: NCIT C66830
in subset: NCIT C85492
from pub med: true

Neural Network
type: Class
subclass of: Network
subclass of: Restriction
  some values from: epilepsy
definition: A computer algorithm to solve non-linear optimization problems. The algorithm was derived in analogy to the way the densely interconnected, parallel structure of the brain processes information.
imported from: ncit.owl
code: C17429
Semantic_Type: Intellectual Product
Preferred_Name: Neural Network
UMLS_CUI: C0870951
Legacy Concept Name: Neural_Network
alternative_term: Neural Network
alternative_term: Neural Networks (Computer)

Experimental Model
type: Class
subclass of: Biological Model
imported from: ncit.owl
code: C17456
Semantic_Type: Intellectual Product
Preferred_Name: Experimental Model
UMLS_CUI: C0086272
Legacy Concept Name: Experimental_Model
alternative_term: Experimental Model
alternative_term: Experimental Models, Other

Palliative Surgery
type: Class
subclass of: Surgical Procedure by Type
subclass of: Restriction
  on property: isTreatmentFor
  some values from: epilepsy
definition: Surgery that does not alter the course of a disease, but improves the quality of life.
imported from: ncit.owl
code: C17883
Semantic_Type: Therapeutic or Preventive Procedure
Display_Name: Palliative Surgery
Preferred_Name: Palliative Surgery
UMLS_CUI: C0282282
Contributing_Source: CTRP
Legacy Concept Name: Palliative_Surgery
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/23250841
alternative_term: Palliative Surgery
in subset: NCIT C116977
in subset: NCIT C118169
from pub med: true

Diagnostic Procedure
type: Class
subclass of: medical intervention
definition: Any procedure or test to diagnose a disease or disorder.
imported from: ncit.owl
code: C18020
Semantic_Type: Diagnostic Procedure
Display_Name: Diagnostic Procedure
Preferred_Name: Diagnostic Procedure
UMLS_CUI: C0430022
Contributing_Source: CTRP
Contributing_Source: NICHD
ALT_DEFINITION: A specific test or series of steps done to help diagnose a disease or condition. Mammograms and colonscopies are examples of diagnostic procedures.
Legacy Concept Name: Diagnostic_Procedure
NICHD_Hierarchy_Term: Diagnostic Procedure
Maps_To: Other diagnostic procedures on breast
Maps_To: Other diagnostic procedures on rectum, rectosigmoid and perirectal tissue
alternative_term: Diagnostic Method
alternative_term: Diagnostic Procedure
alternative_term: Diagnostic Technique
alternative_term: Diagnostic Test
alternative_term: diagnostic procedure
alternative_term: diagnostic technique
in subset: NCIT C116977
in subset: NCIT C118169
in subset: NCIT C90259

Cytogenetic Analysis
type: Class
subclass of: Molecular Analysis
definition: Techniques for analysis of chromosomal and subchromosomal properties and structures, such as those to diagnose, classify, screen for, or manage genetic diseases and abnormalities.
imported from: ncit.owl
code: C18280
Semantic_Type: Laboratory Procedure
Display_Name: Cytogenetic Analysis
Preferred_Name: Cytogenetic Analysis
UMLS_CUI: C0752095
Contributing_Source: CDISC
Contributing_Source: CPTAC
Contributing_Source: CTRP
ALT_DEFINITION: The determination of the holistic or specific regional aberrations in a chromosome (insertions, deletions, amplifications, translocations).
Legacy Concept Name: Cytogenetic_Analysis
Maps_To: Cytogenetics, NOS
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/21269290
alternative_term: CHROMAB
alternative_term: Chromosomal Aberration
alternative_term: Cytogenetic Analysis
alternative_term: Cytogenetic Techniques
alternative_term: Cytogenetic studies
in subset: NCIT C116105
in subset: NCIT C116106
in subset: NCIT C116977
in subset: NCIT C118169
in subset: NCIT C156952
in subset: NCIT C156953
in subset: NCIT C159414
in subset: NCIT C61410
in subset: NCIT C66830
from pub med: true

Personal Medical History
type: Class
subclass of: Personal Attribute
definition: A record of a patient's background regarding health and the occurrence of disease events of the individual. In addition, personal medical history may be a variable in epidemiologic studies.
imported from: ncit.owl
Has_NICHD_Parent: NCIT C90492
code: C18772
Semantic_Type: Clinical Attribute
Preferred_Name: Personal Medical History
UMLS_CUI: C0262926
Contributing_Source: CPTAC
Contributing_Source: NICHD
ALT_DEFINITION: A collection of information about a person's health. It may include information about allergies, illnesses and surgeries, and dates and results of physical exams, tests, screenings, and immunizations. It may also include information about medicines taken and about diet and exercise.
Legacy Concept Name: Personal_Medical_History
NICHD_Hierarchy_Term: Personal Medical History
alternative_term: General Medical History
alternative_term: History
alternative_term: Medical History
alternative_term: PMH
alternative_term: Past Medical History
alternative_term: Personal History
alternative_term: Personal Medical History
alternative_term: personal health record
alternative_term: personal history
alternative_term: personal medical history
in subset: NCIT C156952
in subset: NCIT C156953
in subset: NCIT C156954
in subset: NCIT C89506
in subset: NCIT C90259
from ESSO: true

Rodent Model of Disease
type: Class
subclass of: Animal Model
definition: A rodent disease whose pathologic mechanisms are sufficiently similar to those of a human disease to serve as a model.
imported from: ncit.owl
code: C19021
Semantic_Type: Experimental Model of Disease
Preferred_Name: Rodent Model of Disease
UMLS_CUI: C1519106
Legacy Concept Name: Rodent_Model
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/22938964
alternative_term: Rodent Model of Disease
from pub med: true

In Vitro Model
type: Class
subclass of: Experimental Model
imported from: ncit.owl
code: C19146
Semantic_Type: Research Activity
Preferred_Name: In Vitro Model
UMLS_CUI: C1515654
Legacy Concept Name: in_vitro_Model
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30086482
has definition: In vitro (Latin for within the glass) refers to the technique of performing a given procedure in a controlled environment outside of a living organism.
alternative_term: In Vitro Model
from pub med: true

Axiom
annotated source: In Vitro Model
annotated property: hasDefinition
annotated target: In vitro (Latin for within the glass) refers to the technique of performing a given procedure in a controlled environment outside of a living organism.

In Vivo Model
type: Class
subclass of: Experimental Model
imported from: ncit.owl
code: C19148
Semantic_Type: Research Activity
Preferred_Name: In Vivo Model
UMLS_CUI: C1515657
Legacy Concept Name: in_vivo_Model
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30086482
has definition: In vivo (Latin for “within the living”) refers to experimentation using a whole, living organism as opposed to a partial or dead organism.
alternative_term: In Vivo Model
from pub med: true

Axiom
annotated source: In Vivo Model
annotated property: hasDefinition
annotated target: In vivo (Latin for “within the living”) refers to experimentation using a whole, living organism as opposed to a partial or dead organism.

Transgenic Model
type: Class
subclass of: Animal Model
definition: A disease in a transgenic animal with pathologic mechanisms sufficiently similar to those of a human disease for the animal disease to serve as a model.
imported from: ncit.owl
code: C19272
Semantic_Type: Experimental Model of Disease
Preferred_Name: Transgenic Model
UMLS_CUI: C1519606
Legacy Concept Name: Transgenic_Model
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/20492865
alternative_term: Transgenic Model
from pub med: true

Non-Rodent Model
type: Class
subclass of: Animal Model
definition: Research animal models that do not include mice, rats, etc, but that might include non-human primates, cats, dogs, and others.
imported from: ncit.owl
code: C19300
Semantic_Type: Experimental Model of Disease
Preferred_Name: Non-Rodent Model
UMLS_CUI: C1518385
Legacy Concept Name: Non-Rodent_Model
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/22938964
alternative_term: Non-Rodent Model
from pub med: true

Personal Attribute
type: Class
subclass of: information content entity
definition: The distinguishing qualities or prominent aspects of an individual person.
imported from: ncit.owl
code: C19332
Semantic_Type: Organism Attribute
Preferred_Name: Personal Attribute
UMLS_CUI: C0681884
Legacy Concept Name: Personal_Attribute
alternative_term: Personal
alternative_term: Personal Attribute
alternative_term: Subject Characteristics

Molecular Analysis
type: Class
subclass of: technique
subclass of: Restriction
  on property: isDiagnosisFor
  some values from: epilepsy
definition: A laboratory procedure that involves the study of tissues, cells, and fluids using DNA/RNA analysis techniques for the identification of characteristics and abnormalities at the molecular level.
imported from: ncit.owl
code: C19770
Semantic_Type: Laboratory Procedure
Preferred_Name: Molecular Analysis
UMLS_CUI: C1513380
Legacy Concept Name: Molecular_Analysis
alternative_term: Molecular Analysis
alternative_term: Molecular Genetic Analysis
alternative_term: Molecular Genetic Procedure
alternative_term: Molecular Procedure

Angiography
type: Class
subclass of: imaging technique
definition: The X-ray examination of the blood vessels or chambers of the heart.
imported from: ncit.owl
code: C20080
Semantic_Type: Diagnostic Procedure
Display_Name: Angiography
Preferred_Name: Angiography
NCI_META_CUI: CL378222
Contributing_Source: CDISC
Contributing_Source: CTRP
ALT_DEFINITION: A method used to create an image of blood vessels.
ALT_DEFINITION: A procedure to x-ray blood vessels. The blood vessels can be seen because of an injection of a dye that shows up in the x-ray.
Legacy Concept Name: Angiography
alternative_term: ANGIOGRAPHY
alternative_term: Angiography
alternative_term: angiography
in subset: NCIT C116977
in subset: NCIT C118169
in subset: NCIT C119016
in subset: NCIT C61410
in subset: NCIT C66830
in subset: NCIT C85492
from article: true

Research or Clinical Assessment Tool
type: Class
subclass of: Diagnostic Procedure
definition: Any one of several evaluation/assessment tools used to ascertain a patient's condition or diagnosis.
imported from: ncit.owl
Has_NICHD_Parent: NCIT C25214
code: C20993
Semantic_Type: Intellectual Product
Preferred_Name: Research or Clinical Assessment Tool
UMLS_CUI: C1516602
Contributing_Source: NICHD
Legacy Concept Name: Clinical_Assessment_Tool
NICHD_Hierarchy_Term: Clinical Assessment Tool
alternative_term: Clinical Assessment Tool
alternative_term: Clinical or Research Assessment Tool
alternative_term: Research or Clinical Assessment Tool
in subset: NCIT C90259

Deep Brain Stimulation
type: Class
subclass of: therapeutic procedure
definition: A highly invasive form of electroanalgesia mainly used in the management of debilitating chronic pain syndromes after all other less invasive therapeutic modalities (including SCS) have failed. (White, Li, and Chiu)
imported from: ncit.owl
code: C21024
Semantic_Type: Therapeutic or Preventive Procedure
Preferred_Name: Deep Brain Stimulation
UMLS_CUI: C0394162
Contributing_Source: CPTAC
Legacy Concept Name: Deep_Brain_Stimulation
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30030085
alternative_term: DBS
alternative_term: Deep Brain Stimulation
alternative_term: Deep Brain Stimulation Therapy
in subset: NCIT C156952
in subset: NCIT C158037
in subset: NCIT C158520
from pub med: true

Height
type: Class
subclass of: Personal Attribute
definition: The vertical measurement or distance from the base to the top of an object; the vertical dimension of extension.
imported from: ncit.owl
code: C25347
Semantic_Type: Quantitative Concept
Preferred_Name: Height
UMLS_CUI: C0489786
Contributing_Source: CDISC
Contributing_Source: FDA
Contributing_Source: NCPDP
ALT_DEFINITION: The vertical measurement or distance from the base to the top of an object; the vertical dimension of extension. (NCI)
ALT_DEFINITION: Vertical measurement value.
Legacy Concept Name: Height
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28384785
alternative_term: HEIGHT
alternative_term: Height
alternative_term: Height at Time of Procedure
in subset: NCIT C106039
in subset: NCIT C61410
in subset: NCIT C66741
in subset: NCIT C66830
in subset: NCIT C67153
in subset: NCIT C77526
in subset: NCIT C89415
in subset: NCIT C91101
from pub med: true

Event
type: Class
subclass of: process
definition: Something that happens at a given place and time.
imported from: ncit.owl
code: C25499
Semantic_Type: Event
Preferred_Name: Event
UMLS_CUI: C0441471
Legacy Concept Name: Event
alternative_term: Event

Encephalopathy
type: Class
subclass of: brain disease
definition: A functional and/or structural disorder of the brain caused by diseases (e.g. liver disease, kidney disease), medications, chemicals, and injuries.
imported from: ncit.owl
Has_CDRH_Parent: NCIT C54450
code: C26920
Semantic_Type: Disease or Syndrome
Preferred_Name: Encephalopathy
UMLS_CUI: C0085584
FDA_Table: Patient Code (Appendix B)
Contributing_Source: CTCAE
Contributing_Source: FDA
Contributing_Source: MedDRA
Contributing_Source: NICHD
ALT_DEFINITION: A disorder characterized by a pathologic process involving the brain.
ALT_DEFINITION: A disorder of the brain that can be caused by disease, injury, drugs, or chemicals.
ALT_DEFINITION: Diffuse disease of the brain that alters function and/or structure of the brain and is characterized by an altered mental state.
Legacy Concept Name: Encephalopathy
NICHD_Hierarchy_Term: Encephalopathy
Maps_To: Encephalopathy
alternative_term: Encephalopathy
alternative_term: encephalopathy
in subset: NCIT C118464
in subset: NCIT C54450
in subset: NCIT C62596
in subset: NCIT C90259
in subset: NCIT C97150

Complication
type: Class
subclass of: disease
definition: Any disease or disorder that occurs during the course of, or because of, another disease, treatment, or procedure.
imported from: ncit.owl
code: C2959
Semantic_Type: Finding
Preferred_Name: Complication
UMLS_CUI: C0009566
Contributing_Source: NICHD
ALT_DEFINITION: In medicine, a medical problem that occurs during a disease, or after a procedure or treatment. The complication may be caused by the disease, procedure, or treatment or may be unrelated to them.
Legacy Concept Name: Complication
NICHD_Hierarchy_Term: Complication
alternative_term: Complication
alternative_term: Medical Complication
alternative_term: complication
in subset: NCIT C90259
in subset: NCIT C99147

Head Injury
type: Class
subclass of: injury
definition: A traumatic injury to the head.
imported from: ncit.owl
Has_CDRH_Parent: NCIT C54450
code: C34660
Semantic_Type: Finding
Preferred_Name: Head Injury
UMLS_CUI: C0018674
FDA_Table: Patient Code (Appendix B)
Contributing_Source: FDA
Contributing_Source: NICHD
Legacy Concept Name: Head_Injury
NICHD_Hierarchy_Term: Head Injury
alternative_term: Head Injury
alternative_term: Injury of Head
alternative_term: Injury, Head
in subset: NCIT C54450
in subset: NCIT C62596
in subset: NCIT C90259
in subset: NCIT C99147
from ESSO: true

Hysteria
type: Class
subclass of: personality disorder
definition: A psychological state of emotional lability characterized by irrational behavior. This is a colloquial term that is not commonly used in clinical medicine.
imported from: ncit.owl
code: C34721
Semantic_Type: Sign or Symptom
Preferred_Name: Hysteria
UMLS_CUI: C0020701
Legacy Concept Name: Hysteria
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK1169/#adnfle.Clinical_Characteristics
alternative_term: Hysteria
from NCBI book: true

Jacksonian Seizure
type: Class
subclass of: Focal clonic seizure
definition: A partial motor seizure that begins in a single area of the body and progresses to include other areas on the same side of the body.
imported from: ncit.owl
code: C34739
Semantic_Type: Finding
Preferred_Name: Jacksonian Seizure
UMLS_CUI: C0022333
Legacy Concept Name: Jacksonian_Seizure
alternative_term: Jacksonian Seizure
from article: true

Optical Illusion
type: Class
subclass of: perception
definition: The visual perception of an image that differs from the reality of the image.
imported from: ncit.owl
code: C34865
Semantic_Type: Disease or Syndrome
Preferred_Name: Optical Illusion
UMLS_CUI: C0029139
Legacy Concept Name: Optical_Illusion
alternative_term: Optical Illusion
alternative_term: Visual Illusion
from article: true
from ESSO: true

Behavioral Disorder
type: Class
subclass of: epilepsy imitator
definition: A specific behavioral problem that occurs in persistent patterns and characteristic clusters and that causes clinically significant impairment.
imported from: ncit.owl
code: C35470
Semantic_Type: Mental or Behavioral Dysfunction
Preferred_Name: Behavioral Disorder
UMLS_CUI: C0481391
Contributing_Source: CPTAC
Contributing_Source: NICHD
Legacy Concept Name: Behavior-Related_Disorder
NICHD_Hierarchy_Term: Behavioral Disorder
Maps_To: Seeking and accepting physical, nutritional and chemical interventions known to be hazardous and harmful
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/27210239
alternative_term: Behavior-Related Disorder
alternative_term: Behavior-Related Problem
alternative_term: Behavioral Disorder
alternative_term: Behaviour-Related Disorder
alternative_term: Lifestyle-Related Condition
alternative_term: Lifestyle-Related Disorder
alternative_term: Lifestyle-Related Problem
has_related_synonym: Behavioral, psychological and psychiatric disorders
in subset: NCIT C156952
in subset: NCIT C158035
in subset: NCIT C158520
in subset: NCIT C90259
in subset: NCIT C97150
from ILAE: true
from pub med: true

Gene Abnormality
type: Class
subclass of: genetic etiology
definition: A variation in or modification of the nucleic acid sequence of a gene that can alter its expression and may result in either a congenital disorder or the clinical presentation of a disease.
imported from: ncit.owl
code: C36327
Semantic_Type: Cell or Molecular Dysfunction
Preferred_Name: Gene Abnormality
UMLS_CUI: C1517478
Legacy Concept Name: Gene_Abnormality
has definition: Current knowledge regarding the contribution of gene abnormalities to epilepsy derives from specific molecular genetic studies that have been well replicated and even become the basis of diagnostic testing, or from appropriately designed family studies.
alternative_term: Gene Abnormality
alternative_term: Genetic Mutation
from ILAE: true

Axiom
annotated source: Gene Abnormality
annotated property: hasDefinition
annotated target: Current knowledge regarding the contribution of gene abnormalities to epilepsy derives from specific molecular genetic studies that have been well replicated and even become the basis of diagnostic testing, or from appropriately designed family studies.

Curative Surgery
type: Class
subclass of: Surgical Procedure by Type
subclass of: Restriction
  on property: isTreatmentFor
  some values from: epilepsy
definition: Surgery which cures disease.
imported from: ncit.owl
code: C38047
Semantic_Type: Therapeutic or Preventive Procedure
Preferred_Name: Curative Surgery
UMLS_CUI: C1511562
Legacy Concept Name: Curative_Surgery
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/16380232
alternative_term: Curative Surgery
from pub med: true

Beck Depression Inventory
type: Class
subclass of: Research or Clinical Assessment Tool
definition: A twenty-one question survey completed by a patient, with each answer scored on a scale of 0 to 3, designed to measure presence of depression.
imported from: ncit.owl
code: C40438
Semantic_Type: Intellectual Product
Preferred_Name: Beck Depression Inventory
UMLS_CUI: C0451022
Legacy Concept Name: Beck_Depression_Inventory
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29111504
alternative_term: Beck Depression Inventory
from pub med: true

Electrocardiographic Finding
type: Class
subclass of: clinical finding
definition: Graphic representation and categorization of the electrical vectors produced by the depolarization and repolarization of myocardial tissue.
imported from: ncit.owl
code: C41328
Semantic_Type: Finding
Preferred_Name: Electrocardiographic Finding
UMLS_CUI: C0438154
Legacy Concept Name: Electrocardiographic_Finding
alternative_term: ECG Finding
alternative_term: Electrocardiographic Finding
alternative_term: Electrocardiographic Findings

Wound Infection
type: Class
subclass of: infection
definition: Infection of a break in the skin or other tissue.
imported from: ncit.owl
Has_NICHD_Parent: NCIT C128320
Has_NICHD_Parent: NCIT C26726
code: C45234
Semantic_Type: Disease or Syndrome
Preferred_Name: Wound Infection
UMLS_CUI: C0043241
Contributing_Source: MedDRA
Contributing_Source: NICHD
ALT_DEFINITION: A disorder characterized by an infectious process involving the wound.
ALT_DEFINITION: Infection of a break in the skin or other tissue due to injury.
Legacy Concept Name: Wound_Infection
NICHD_Hierarchy_Term: Wound Infection
Maps_To: Wound infection
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29624147
alternative_term: Wound Infection
alternative_term: Wound infection
in subset: NCIT C118464
in subset: NCIT C128453
in subset: NCIT C90259
from pub med: true

Electrode Device
type: Class
subclass of: device
subclass of: Restriction
  some values from: epilepsy
definition: A conductor that is designed to make contact with part of a circuit or system.
imported from: ncit.owl
code: C49936
Semantic_Type: Manufactured Object
Preferred_Name: Electrode Device
UMLS_CUI: C0013812
Contributing_Source: FDA
ALT_DEFINITION: A small piece of metal or other conductive substance this is used to take an electric current to or from a source of power, a piece of equipment. Not to be used for patient connection.
ALT_DEFINITION: In medicine, a device such as a small metal plate or needle that carries electricity from an instrument to a patient for treatment or surgery. Electrodes can also carry electrical signals from muscles, brain, heart, skin, or other body parts to recording devices to help diagnose certain conditions.
Legacy Concept Name: Electrode_Device_Component
database_cross_reference: IMDRF:G021501
alternative_term: Electrode
alternative_term: Electrode Device
alternative_term: electrode
in subset: NCIT C54577
in subset: NCIT C62596

Missed Dose
type: Class
subclass of: trigger factor for seizure
definition: A dose of medicine that was not taken at the prescribed dosing interval.
imported from: ncit.owl
Has_CDRH_Parent: NCIT C54450
code: C50429
Semantic_Type: Functional Concept
Preferred_Name: Missed Dose
UMLS_CUI: C1709043
FDA_Table: Patient Code (Appendix B)
Contributing_Source: FDA
Legacy Concept Name: Missed_Dose
alternative_term: Dose, Missed
alternative_term: Missed Dose
in subset: NCIT C54450
in subset: NCIT C62596
from article: true

Asphyxia
type: Class
subclass of: abnormal homeostasis
definition: A state of general hypoxia and hypercapnea, resulting in acidosis, which affects all tissues in the body.
imported from: ncit.owl
Has_CDRH_Parent: NCIT C3890
Has_NICHD_Parent: NCIT C45233
code: C50465
Semantic_Type: Finding
Preferred_Name: Asphyxia
UMLS_CUI: C0004044
FDA_Table: Patient Code (Appendix B)
Contributing_Source: FDA
Contributing_Source: MedDRA
Contributing_Source: NICHD
ALT_DEFINITION: A condition due to lack of oxygen in respired air, resulting in impending or actual cessation of life.
ALT_DEFINITION: A state of hypoxia and hypercapnea, resulting in acidosis, which affects all tissues in the body.
Legacy Concept Name: Asphyxia
NICHD_Hierarchy_Term: Asphyxia
Maps_To: Asphyxia
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29382476
alternative_term: Asphyxia
in subset: NCIT C118464
in subset: NCIT C54450
in subset: NCIT C62596
in subset: NCIT C90259
from pub med: true

Dialysis Encephalopathy
type: Class
subclass of: Encephalopathy
definition: A severe, often fatal encephalopathy which has been attributed to accumulation in the brain of aluminum from dialysate prepared with inadequately purified water.
imported from: ncit.owl
Has_CDRH_Parent: Encephalopathy
code: C50531
Semantic_Type: Disease or Syndrome
Preferred_Name: Dialysis Encephalopathy
UMLS_CUI: C0221040
FDA_Table: Patient Code (Appendix B)
Contributing_Source: FDA
ALT_DEFINITION: A severe, often fatal encephalopathy which has been attributed to accumulation in the brain of aluminum from dialysate prepared with inadequately purified water.
Legacy Concept Name: Dialysis_Encephalopathy
alternative_term: Dementia, Dialysis
alternative_term: Dialysis Dementia
alternative_term: Dialysis Encephalopathy
alternative_term: Progressive Dialysis Encephalopathy
in subset: NCIT C54450
in subset: NCIT C62596
from article: true

Fall
type: Class
subclass of: Event
definition: A sudden movement downward, usually resulting in injury.
imported from: ncit.owl
Has_CDRH_Parent: NCIT C54450
code: C50558
Semantic_Type: Phenomenon or Process
Preferred_Name: Fall
UMLS_CUI: C0085639
FDA_Table: Patient Code (Appendix B)
Contributing_Source: CPTAC
Contributing_Source: CTCAE
Contributing_Source: FDA
Contributing_Source: MedDRA
Contributing_Source: NICHD
ALT_DEFINITION: A finding of sudden movement downward, usually resulting in injury.
ALT_DEFINITION: An event which results in an individual coming to rest inadvertently on the ground or lower object. (WHO)
Legacy Concept Name: Fall
NICHD_Hierarchy_Term: Fall
Maps_To: Fall
alternative_term: Fall
in subset: NCIT C118464
in subset: NCIT C156952
in subset: NCIT C158034
in subset: NCIT C158035
in subset: NCIT C158520
in subset: NCIT C54450
in subset: NCIT C62596
in subset: NCIT C90259
from article: true
from ESSO: true

Phosphene Visualization
type: Class
subclass of: Abnormality of vision
definition: An objective visual sensation that appears with the eyes closed and in the absence of visual light.
imported from: ncit.owl
Has_CDRH_Parent: NCIT C54450
code: C50697
Semantic_Type: Finding
Preferred_Name: Phosphene Visualization
UMLS_CUI: C1709528
FDA_Table: Patient Code (Appendix B)
Contributing_Source: FDA
ALT_DEFINITION: An objective visual sensation that appears with the eyes closed and in the absence of visual light.
Legacy Concept Name: Phosphene_Visualization
has db x ref: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2757123/
alternative_term: Phosphene Visualization
alternative_term: Visualization, Phosphene
in subset: NCIT C54450
in subset: NCIT C62596
from ESSO: true
from pub med: true

Regurgitation
type: Class
subclass of: digestive system symptom
definition: Flow in the opposite direction from normal, as the casting up of undigested food or gas from the stomach, or the backward flowing of blood into the heart, or between the chambers of the heart when a valve is incompetent.
imported from: ncit.owl
Has_CDRH_Parent: NCIT C54450
code: C50726
Semantic_Type: Finding
Preferred_Name: Regurgitation
UMLS_CUI: C2004489
FDA_Table: Patient Code (Appendix B)
Contributing_Source: FDA
Contributing_Source: NICHD
ALT_DEFINITION: Flow in the opposite direction from normal, as the casting up of undigested food or gas from the stomach, or the backward flowing of blood into the heart, or between the chambers of the heart when a valve is incompetent.
Legacy Concept Name: Regurgitation
NICHD_Hierarchy_Term: Regurgitation
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28139515
alternative_term: Regurgitation
in subset: NCIT C54450
in subset: NCIT C62596
in subset: NCIT C89506
in subset: NCIT C90259
from pub med: true

Network
type: Class
subclass of: generically dependent continuant
definition: An interconnected system of things or people.
imported from: ncit.owl
code: C61377
Semantic_Type: Conceptual Entity
Preferred_Name: Network
UMLS_CUI: C1882071
Legacy Concept Name: Network
alternative_term: Network

Gene Expression Analysis
type: Class
subclass of: Molecular Analysis
imported from: ncit.owl
code: C63479
Semantic_Type: Laboratory Procedure
Display_Name: Gene Expression Analysis
Preferred_Name: Gene Expression Analysis
UMLS_CUI: C1880945
Contributing_Source: CTRP
Legacy Concept Name: Gene_Expression_Analysis
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/19243383
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29722352
has definition: Gene expression analysis is the study of gene products by imaging, amplification, probe hybridization or sequencing-based detection methods.
alternative_term: Gene Expression Analysis
in subset: NCIT C116977
in subset: NCIT C118169
from pub med: true

Axiom
annotated source: Gene Expression Analysis
annotated property: hasDefinition
annotated target: Gene expression analysis is the study of gene products by imaging, amplification, probe hybridization or sequencing-based detection methods.

Cognitive Behavior Therapy
type: Class
subclass of: Psychotherapy
definition: A type of psychotherapy utilized to treat different forms of mental disorders.The treatment involves the identification of unhelpful or destructive patterns of thinking and behaviors and the subsequent replacement with behaviors that are beneficial and constructive.
imported from: ncit.owl
code: C64345
Semantic_Type: Therapeutic or Preventive Procedure
Display_Name: Cognitive Behavior Therapy
Preferred_Name: Cognitive Behavior Therapy
UMLS_CUI: C0009244
Contributing_Source: CTRP
ALT_DEFINITION: A type of psychotherapy that helps patients change their behavior by changing the way they think and feel about certain things. It is used to treat mental, emotional, personality, and behavioral disorders.
Legacy Concept Name: Cognitive_Behavior_Therapy
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28382495
alternative_term: CBT
alternative_term: CT
alternative_term: Cognitive Behavior Therapy
alternative_term: cognitive behavior therapy
alternative_term: cognitive therapy
has_related_synonym: Cognitive and Behavioral Interventions
in subset: NCIT C116977
in subset: NCIT C118169
from pub med: true

Diffusion Tensor Imaging
type: Class
subclass of: magnetic resonance imaging
definition: A type of diffusion-weighted magnetic resonance imaging (DW-MRI) that maps the diffusion of water in three dimensions, the principal purpose of which is to image the white matter of the brain, specifically measuring the anisotropy, location, and orientation of the neural tracts, which can demonstrate microstructural changes or differences with neuropathology and treatment.
imported from: ncit.owl
code: C64862
Semantic_Type: Diagnostic Procedure
Display_Name: Diffusion Tensor Imaging
Preferred_Name: Diffusion Tensor Imaging
UMLS_CUI: C1537007
Contributing_Source: CDISC
Contributing_Source: CTRP
ALT_DEFINITION: A type of MRI technique that maps the diffusion of water in three dimensions.
Legacy Concept Name: Diffusion_Tensor_Imaging
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26255305
alternative_term: DIFFUSION TENSOR MRI
alternative_term: DT-MRI
alternative_term: DTI
alternative_term: Diffusion Tensor Imaging
in subset: NCIT C116977
in subset: NCIT C118169
in subset: NCIT C61410
in subset: NCIT C66830
in subset: NCIT C85492
from pub med: true

Nutritional Therapy
type: Class
subclass of: therapeutic procedure
imported from: ncit.owl
code: C65017
Semantic_Type: Therapeutic or Preventive Procedure
Preferred_Name: Nutritional Therapy
UMLS_CUI: C2937349
Contributing_Source: CPTAC
ALT_DEFINITION: Treatment based on nutrition. It includes checking a person's nutrition status, and giving the right foods or nutrients to treat conditions such as those caused by diabetes, heart disease, and cancer. It may involve simple changes in a person's diet, or intravenous or tube feeding. Medical nutrition therapy may help patients recover more quickly and spend less time in the hospital.
Legacy Concept Name: Nutritional_Therapy
alternative_term: Medical Nutrition Therapy
alternative_term: Nutritional Therapy
alternative_term: medical nutrition therapy
alternative_term: nutrition therapy
in subset: NCIT C156952
in subset: NCIT C158037
in subset: NCIT C158520
from article: true

Laser Interstitial Thermal Therapy
type: Class
subclass of: therapeutic procedure
definition: A thermal ablation therapy in which neoplasms are heated with prolonged and moderate temperature elevations. It results in coagulative necrosis in the heated tissue.
imported from: ncit.owl
code: C68680
Semantic_Type: Therapeutic or Preventive Procedure
Display_Name: Laser Interstitial Thermal Therapy
Preferred_Name: Laser Interstitial Thermal Therapy
NCI_META_CUI: CL374463
Contributing_Source: CTRP
Legacy Concept Name: Laser_Interstitial_Thermal_Therapy
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30591281
alternative_term: LITT
alternative_term: Laser Interstitial Thermal Therapy
in subset: NCIT C116977
in subset: NCIT C118169
from pub med: true

Miscellaneous
type: Class
subclass of: epilepsy imitator
definition: Diverse, mixed, consisting of an assortment of different kinds.
imported from: ncit.owl
code: C69023
Semantic_Type: Qualitative Concept
Preferred_Name: Miscellaneous
UMLS_CUI: C0205395
Legacy Concept Name: Miscellaneous
alternative_term: Misc
alternative_term: Miscellaneous
alternative_term: Miscellaneous events
from ILAE: true

Animal Model
type: Class
subclass of: In Vivo Model
definition: An animal that is amenable to experimentation and whose physiological or pathologic mechanisms are sufficiently similar to those of a human for the animal to serve as a model.
imported from: ncit.owl
code: C71164
Semantic_Type: Research Activity
Preferred_Name: Animal Model
UMLS_CUI: C0599779
Legacy Concept Name: Animal_Model_Generic
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/22938964
alternative_term: Animal Model
alternative_term: Animal Model, Generic
alternative_term: Research Model, Animal
from pub med: true

Perinatal Brain Injury
type: Class
subclass of: brain injury
definition: Injury to the brain of a newborn infant occurring around the time of birth.
imported from: ncit.owl
Has_CDRH_Parent: NCIT C50440
code: C73501
Semantic_Type: Finding
Preferred_Name: Perinatal Brain Injury
UMLS_CUI: C2347482
FDA_Table: Patient Code (Appendix B)
Contributing_Source: FDA
Contributing_Source: NICHD
ALT_DEFINITION: Injury occurring as a result of the delivery process.
ALT_DEFINITION: Injury to the brain of a newborn infant occurring around the time of birth.
Use_For: Brain injury, fetal
Use_For: Injury, fetal brain
Legacy Concept Name: Perinatal_Brain_Injury
NICHD_Hierarchy_Term: Perinatal Brain Injury
alternative_term: Perinatal Brain Injury
in subset: NCIT C118466
in subset: NCIT C54450
in subset: NCIT C62596
in subset: NCIT C90259
from article: true

Glutamate Measurement
type: Class
subclass of: neurotransmitter levels
definition: The determination of the amount of glutamate present in a sample.
imported from: ncit.owl
code: C74739
Semantic_Type: Laboratory Procedure
Preferred_Name: Glutamate Measurement
UMLS_CUI: C0523665
Contributing_Source: CDISC
ALT_DEFINITION: A measurement of the glutamate in a biological specimen.
Legacy Concept Name: Glutamate_Measurement
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/21909104
alternative_term: GLUTAM
alternative_term: Glutamate
alternative_term: Glutamate Measurement
alternative_term: Glutamic Acid
alternative_term: glutamate levels
in subset: NCIT C61410
in subset: NCIT C65047
in subset: NCIT C66830
in subset: NCIT C67154
in subset: NCIT C77526
from pub med: true

Hormone Measurement
type: Class
subclass of: clinical measurement
definition: The determination of the amount of hormone present in a sample.
imported from: ncit.owl
code: C74742
Semantic_Type: Laboratory Procedure
Preferred_Name: Hormone Measurement
UMLS_CUI: C0441683
Contributing_Source: NICHD
Legacy Concept Name: Hormone_Measurement
NICHD_Hierarchy_Term: Hormone Measurement
alternative_term: Hormone Measurement
in subset: NCIT C90259
in subset: NCIT C99147

Acetylcholine Measurement
type: Class
subclass of: Hormone Measurement
subclass of: neurotransmitter levels
definition: The determination of the amount of acetylcholine hormone present in a sample.
imported from: ncit.owl
code: C74838
Semantic_Type: Laboratory Procedure
Preferred_Name: Acetylcholine Measurement
UMLS_CUI: C0523441
ALT_DEFINITION: A measurement of the acetylcholine hormone in a biological specimen.
Legacy Concept Name: Acetylcholine_Measurement
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/25819950
alternative_term: ACH
alternative_term: Acetylcholine
alternative_term: Acetylcholine Measurement
in subset: NCIT C61410
in subset: NCIT C65047
in subset: NCIT C66830
in subset: NCIT C67154
in subset: NCIT C77526
from pub med: true

Biological Model
type: Class
subclass of: Model
definition: Systems designed to elucidate facts about complex biological phenomena, usually in a less complex or theoretical test environment.
imported from: ncit.owl
code: C80519
Semantic_Type: Intellectual Product
Preferred_Name: Biological Model
UMLS_CUI: C0026339
Legacy Concept Name: Biological_Model
alternative_term: Biological Model
alternative_term: Biological Models
alternative_term: Model
alternative_term: Model System

Social History
type: Class
subclass of: clinical history
definition: Past events that occurred between individuals and/or their communities.
imported from: ncit.owl
Has_NICHD_Parent: Personal Medical History
code: C81292
Semantic_Type: Clinical Attribute
Preferred_Name: Social History
UMLS_CUI: C0424945
Contributing_Source: NICHD
Legacy Concept Name: Social_History
NICHD_Hierarchy_Term: Social History
alternative_term: Social History
in subset: NCIT C89506
in subset: NCIT C90259
from ESSO: true

Body Weight
type: Class
subclass of: Personal Attribute
definition: The weight of a subject.
imported from: ncit.owl
code: C81328
Semantic_Type: Conceptual Entity
Preferred_Name: Body Weight
UMLS_CUI: C0005910
Contributing_Source: CDISC
Contributing_Source: NCPDP
Contributing_Source: NICHD
ALT_DEFINITION: The weight of a subject. (NCI)
Legacy Concept Name: Weight_of_Body
NICHD_Hierarchy_Term: Body Weight
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/25487080
alternative_term: BW
alternative_term: Body Weight
in subset: NCIT C61410
in subset: NCIT C77526
in subset: NCIT C89415
in subset: NCIT C89506
in subset: NCIT C89961
in subset: NCIT C89962
in subset: NCIT C90259
in subset: NCIT C91101
from pub med: true

Malformations of Cortical Development
type: Class
subclass of: structural etiology
definition: A group of neural cortical developmental malformations of diverse genetic causes. Clinical manifestations include epilepsy and developmental delays.
imported from: ncit.owl
code: C84834
Semantic_Type: Congenital Abnormality
Preferred_Name: Malformations of Cortical Development
UMLS_CUI: C1955869
has definition: Malformations of cortical development are structural abnormalities of the cerebral cortex (the grey matter that lines the surface of the brain), which arise due to the abnormal formation of the cerebral cortex in early (intrauterine) life. The precursor cells of the cerebral cortex are initially formed in the periventricular region, and then migrate to their correct location to form the normal structure and cell connections seen in the mature cerebral cortex.
alternative_term: Malformations of Cortical Development
from ILAE: true

Axiom
annotated source: Malformations of Cortical Development
annotated property: hasDefinition
annotated target: Malformations of cortical development are structural abnormalities of the cerebral cortex (the grey matter that lines the surface of the brain), which arise due to the abnormal formation of the cerebral cortex in early (intrauterine) life. The precursor cells of the cerebral cortex are initially formed in the periventricular region, and then migrate to their correct location to form the normal structure and cell connections seen in the mature cerebral cortex.

Neurocysticercosis
type: Class
subclass of: infectious etiology
definition: A parasitic infection with tapeworms of the genus Taenia affecting the brain. It is manifested with seizures and headaches.
imported from: ncit.owl
Has_NICHD_Parent: NCIT C26835
Has_NICHD_Parent: NCIT C34520
code: C84932
Semantic_Type: Disease or Syndrome
Preferred_Name: Neurocysticercosis
UMLS_CUI: C0338437
Contributing_Source: NICHD
ALT_DEFINITION: A central nervous system infection that results from the inactive parenchymal or ventricular stage of Taenia solium. While many infections are asymptomatic, seizures are the most common symptom.
NICHD_Hierarchy_Term: Neurocysticercosis
has definition: 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. Although neurocysticercosis is more prevalent in developing countries (Latin-America, India and Africa), individuals in developed countries may be affected, if they have had foreign travel to endemic areas.
alternative_term: Neurocysticercosis
in subset: NCIT C128453
in subset: NCIT C90259
from ILAE: true

Axiom
annotated source: Neurocysticercosis
annotated property: hasDefinition
annotated target: 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. Although neurocysticercosis is more prevalent in developing countries (Latin-America, India and Africa), individuals in developed countries may be affected, if they have had foreign travel to endemic areas.

Orthostatic Intolerance
type: Class
subclass of: Syncope
definition: A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart palpitations, sweating, anxiety, lightheadedness, hyperpnea, anxiety, and blurred vision.
imported from: ncit.owl
code: C84973
Semantic_Type: Finding
Preferred_Name: Orthostatic Intolerance
UMLS_CUI: C1535893
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/18777476
has definition: Orthostatic intolerance may result in syncope with changes in posture. Chronic orthostatic intolerance / the postural orthostatic tachycardia syndrome (POTS) in adolescents and adults can produce symptoms of light-headedness, dizziness, blurred vision, sweating, headache and nausea.
alternative_term: Orthostatic Intolerance
from ILAE: true
from pub med: true

Axiom
annotated source: Orthostatic Intolerance
annotated property: hasDefinition
annotated target: Orthostatic intolerance may result in syncope with changes in posture. Chronic orthostatic intolerance / the postural orthostatic tachycardia syndrome (POTS) in adolescents and adults can produce symptoms of light-headedness, dizziness, blurred vision, sweating, headache and nausea.

Comprehension
type: Class
subclass of: mental process
definition: An ability to understand the meaning or importance of something (or the knowledge acquired as a result).
imported from: ncit.owl
code: C86022
Semantic_Type: Mental Process
Preferred_Name: Comprehension
UMLS_CUI: C0162340
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28858722
alternative_term: Comprehension
alternative_term: Understanding
from ESSO: true
from pub med: true

Pleasure
type: Class
subclass of: mental process
definition: An emotion associated with feeling good.
imported from: ncit.owl
code: C86580
Semantic_Type: Mental Process
Preferred_Name: Pleasure
UMLS_CUI: C0679105
has db x ref: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4804666/
alternative_term: Pleasure
from ESSO: true
from pub med: true

Unresponsive
type: Class
subclass of: organismal quality
definition: Failing to produce an effect from some foregoing stimulus or agent.
imported from: ncit.owl
code: C86933
Semantic_Type: Conceptual Entity
Preferred_Name: Unresponsive
UMLS_CUI: C0237284
alternative_term: Not Responsive
alternative_term: Unresponsive
from ESSO: true

Wechsler Preschool and Primary Scale of Intelligence
type: Class
subclass of: Research or Clinical Assessment Tool
definition: An intelligence test published by Harcourt Assessment and designed for children ages 2 years 6 months to 7 years 3 months. It provides subtest and composite scores that represent intellectual functioning in verbal and performance cognitive domains, and provides a composite score that represents a child's general intellectual ability.
imported from: ncit.owl
code: C86974
Semantic_Type: Intellectual Product
Preferred_Name: Wechsler Preschool and Primary Scale of Intelligence
UMLS_CUI: C2828074
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/31461681
alternative_term: WPPSI
alternative_term: Wechsler Preschool and Primary Scale of Intelligence
alternative_term: Wechsler intelligence scale for preschool children version IV)
from pub med: true

Irregular Respiration
type: Class
subclass of: respiratory abnormality
definition: A change from the normal breathing pattern in an infant, child, or adult, in terms of the amplitude and frequency of inhalations and exhalations.
imported from: ncit.owl
code: C87089
Semantic_Type: Sign or Symptom
Preferred_Name: Irregular Respiration
UMLS_CUI: C0425492
Contributing_Source: NICHD
NICHD_Hierarchy_Term: Irregular Respiration
alternative_term: Irregular Breathing
alternative_term: Irregular Respiration
in subset: NCIT C89506
in subset: NCIT C90259
in subset: NCIT C99147
from ESSO: true

Clinical or Research Assessment Questionnaire
type: Class
subclass of: Research or Clinical Assessment Tool
definition: An instrument consisting of a predetermined set of questions for a clinical or research assessment.
imported from: ncit.owl
code: C91105
Semantic_Type: Intellectual Product
Preferred_Name: Clinical or Research Assessment Questionnaire
UMLS_CUI: C2984042
alternative_term: Clinical or Research Assessment Questionnaire

3 Tesla Magnetic Resonance Imaging
type: Class
subclass of: magnetic resonance imaging
definition: MRI that uses a magnet capable of producing a 3 telsa field strength. In theory, 3.0 T magnets have the capability to provide better image quality, with improved diagnostic performance.
imported from: ncit.owl
code: C93013
Semantic_Type: Diagnostic Procedure
Display_Name: 3 Tesla Magnetic Resonance Imaging
Preferred_Name: 3 Tesla Magnetic Resonance Imaging
NCI_META_CUI: CL412383
Contributing_Source: CTRP
ALT_DEFINITION: A procedure in which radio waves and a powerful magnet linked to a computer are used to make detailed pictures of areas inside the body. These pictures can show the difference between normal and abnormal tissue. 3T MRI has a stronger magnet and makes better images of organs and soft tissue than other types of MRI do. It is used to make images of the brain, the spine, the soft tissue of joints, and the inside of bones and blood vessels.
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28324301
alternative_term: 3 Tesla (3 T) MRI
alternative_term: 3 Tesla MRI
alternative_term: 3 Tesla Magnetic Resonance Imaging
alternative_term: 3 Tesla magnetic resonance imaging
alternative_term: 3T MRI
in subset: NCIT C116977
in subset: NCIT C118169
from pub med: true

Cardiac Pacemaker
type: Class
subclass of: device
imported from: ncit.owl
code: C94198
Semantic_Type: Medical Device
Preferred_Name: Cardiac Pacemaker
UMLS_CUI: C0030163
ALT_DEFINITION: An electronic device that is implanted in the body to monitor heart rate and rhythm. It gives the heart electrical stimulation when it does not beat normally. It runs on batteries and has long, thin wires that connect it to the heart.
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26293325
alternative_term: Cardiac Pacemaker
alternative_term: artificial pacemaker
alternative_term: cardiac pacemaker
alternative_term: pacemaker
from pub med: true

Intractable Epilepsy
type: Class
subclass of: epilepsy
subclass of: Restriction
  some values from: epilepsy
definition: Epilepsy that is refractory to treatment.
imported from: ncit.owl
code: C9487
Semantic_Type: Disease or Syndrome
Preferred_Name: Intractable Epilepsy
UMLS_CUI: C1096063
Legacy Concept Name: Intractable_Epilepsy
alternative_term: Intractable Epilepsy
alternative_term: refractory epilepsy

Dysembryoplastic Neuroepithelial Tumor
type: Class
subclass of: Neoplasm
definition: A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface. (Adapted from WHO)
imported from: ncit.owl
code: C9505
Semantic_Type: Neoplastic Process
Preferred_Name: Dysembryoplastic Neuroepithelial Tumor
UMLS_CUI: C1266177
ICD-O-3_Code: 9413/0
Neoplastic_Status: Undetermined
Legacy Concept Name: Dysembryoplastic_Neuroepithelial_Tumor
Maps_To: 9413/0
Maps_To: Dysembryoplastic neuroepithelial tumor
has definition: A dysembryoplastic neuroepithelial tumor (DNET) is a glioneuronal tumor that is cortically based, usually with a multinodular and/or multicystic appearance. Histologically, DNET's are characterized by oligodendrioglial like cells, intermixed with neuronal and astrocytic cells, with minimial cellular atypia. They are commonly found in the temporal lobes, but can be found elsewhere. They are frequently found to co-occur with adjacent focal cortical dysplasia (FCD IIIb), suggesting a common developmental etiology for both structural abnormalities.
alternative_term: DNET
alternative_term: DNT
alternative_term: Dysembryoplastic Neuroepithelial Neoplasm
alternative_term: Dysembryoplastic Neuroepithelial Tumor
in subset: NCIT C126659
in subset: oncotree slim
from ILAE: true

Axiom
annotated source: Dysembryoplastic Neuroepithelial Tumor
annotated property: hasDefinition
annotated target: A dysembryoplastic neuroepithelial tumor (DNET) is a glioneuronal tumor that is cortically based, usually with a multinodular and/or multicystic appearance. Histologically, DNET's are characterized by oligodendrioglial like cells, intermixed with neuronal and astrocytic cells, with minimial cellular atypia. They are commonly found in the temporal lobes, but can be found elsewhere. They are frequently found to co-occur with adjacent focal cortical dysplasia (FCD IIIb), suggesting a common developmental etiology for both structural abnormalities.

Cyanotic Attacks in Children
type: Class
subclass of: Syncope
definition: Episodes of cyanosis that result from breath holding spells in response to anger or frustration, during childhood. These episodes usually resolve in a few seconds.
imported from: ncit.owl
code: C98909
Semantic_Type: Finding
Preferred_Name: Cyanotic Attacks in Children
UMLS_CUI: C3274490
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK2609/
alternative_term: Breath-holding attacks
alternative_term: Cyanotic Attacks in Children
alternative_term: cyanotic breath-holding attacks
from ILAE: true
from NCBI book: true

Porencephalic Cyst
type: Class
subclass of: structural etiology
definition: A congenital or acquired cystic cavity within the cerebral hemisphere.
imported from: ncit.owl
Has_NICHD_Parent: NCIT C2978
code: C99020
Semantic_Type: Finding
Preferred_Name: Porencephalic Cyst
UMLS_CUI: C4082172
Contributing_Source: NICHD
ALT_DEFINITION: Cystic area of encephalomalacia that is the end result of a destructive process such as intraparenchymal hemorrhage, infection or trauma.
NICHD_Hierarchy_Term: Porencephalic Cyst
has definition: Porencephalic cysts are cavities seen in the cerebral hemispheres, that may arise due to past hypoxia-ischemia, vascular occlusion (stroke), haemorrhage, or infection. These cysts may co-exist with other structural sequelae of the original cerebral insult or with hippocampal sclerosis.
alternative_term: Porencephalic Cyst
in subset: NCIT C118466
in subset: NCIT C90259
in subset: NCIT C99147
from ILAE: true

Axiom
annotated source: Porencephalic Cyst
annotated property: hasDefinition
annotated target: Porencephalic cysts are cavities seen in the cerebral hemispheres, that may arise due to past hypoxia-ischemia, vascular occlusion (stroke), haemorrhage, or infection. These cysts may co-exist with other structural sequelae of the original cerebral insult or with hippocampal sclerosis.

adverse event
type: Class
subclass of: pathological bodily process
definition: a pathological bodily process that occurs after a medical intervention. An adverse event is likely caused by the medical intervention; however, such a causal association is not required to be an adverse event.
editor note: Melanie Courtot and YH: More work is needed on how to restrict the scope of a term to be an 'adverse event', notably regarding temporal association. When is an appropirate time interval between a medical intervention and an adverse event observed? One week, one month, one year, or a lifetime? For some well-studied medical interventions (e.g., administration of many vaccines or drugs), we probably have a general idea. For many new interventions, we don't know much. In OAE, this issue is associated with defining the 'adverse event incubation time'.
editor note: YH: An adverse event is a process that has specified output of some adverse medical outcome (e.g., symptom, sign or accident) after a medical intervention (or process) (e.g., administration of drug or vaccine). The medical intervention can be an administration of a drug, a vaccine (i.e., vaccination), or a special nutritional product (for example, dietary supplement, infant formula, medical food), surgery, or usage of a medical device.
editor note: YH: An adverse event is possibly induced by the medical intervention. It can be caused by the medical intervention, or may not be caused by the medical intervention. One ultimate goal (or the goal in clinics) of study adverse events is to assess if the adverse event outcome is due to the medical intervention.
editor note: YH: In development of OAE, we initially use vaccine adverse event as our use case. A vaccine adverse event is associated with a vaccination (i.e. a medical intervention), regardless of whether it is considered vaccine-related, and includes any side effect, injury, toxicity, or sensitivity reaction or significant failure of immunization (i.e., a pharmacologic action). Ref: Baylor NW and Midthum K. Regulation and testing of vaccines. In: Vaccines (Editors: Plotkin S, Orenstein W, and Offit P). 2008. p1623.
editor note: YH: The current term 'adverse event' is different from the term definition shown in our paper: He Y, Xiang Z, Sarntivijai S, Toldo L, Ceusters W. OAE: a realism-based biomedical ontology for the representation of adverse events. Adverse Event Representation Workshop, International Conference on Biomedical Ontologies (ICBO), University at Buffalo, NY, July 26-30, 2011. Full lenghth conference proceeding paper. We made the name changing in order to make OAE cover the broader sense of the 'adverse event' which does not assume definite causal effect between an adverse event and a medical intervention. In current definition, the adverse event emphasizes the time association and assumes a likelihood of such a causal association. This term 'adverse event' is stil under the OGMS:pathological bodily process. The 'adverse event' defined in the above paper has now been changed to a new term: 'causal adverse event'. See more information in the new publication: Yongqun He Y, Sirarat Sarntivijai, Yu Lin, Zuoshuang Xiang, Abra Guo, Shelley Zhang, Desikan Jagannathan, Luca Toldo, Cui Tao and Barry Smith. OAE: The Ontology of Adverse Events. Journal of Biomedical Semantics. 2014, 5:29 doi:10.1186/2041-1480-5-29. PMID: 25093068.PMCID: PMC4120740.
editor note: YH: The main scope of OAE includes: (1) represent terms and relations in the area of adverse events, (2) assess possible associations between an adverse event and a medical intervention, particularly, identify any causal effect of a medical intervention to an adverse event; and (2) understand the mechanism (including molecular mechanisms) of causal adverse events.
editor note: YH: There has been discussion regarding whether the term 'side effect' is an alternative term for 'adverse event'. In AERO, the term 'AERO:adverse event' represents a subset of those adverse events for which causality has been established. In OAE, an adverse event for which causality has been established is called 'causal adverse event'.
definition editor: Yongqun He
alternative term: AE
alternative term: adverse reaction
definition source: WEB: http://en.wikipedia.org/wiki/Adverse_event
definition source: WEB: http://www.fda.gov/Safety/MedWatch/HowToReport/ucm053087.htm
definition source: WEB: http://www.ncbi.nlm.nih.gov/pubmed/25093068
imported from: oae.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5946606/
comment: The OAE official website is: http://www.oae-ontology.org/.
from pub med: true

medical intervention
type: Class
subclass of: planned process
definition: medical intervention is a planned process that has the goal of diagnosing, preventing or relieving illness or injury.
editor note: The act of intervening, interfering or interceding with the intent of modifying the outcome. In medicine, an intervention is usually undertaken to help treat or cure a condition. For example, "Acupuncture as a therapeutic intervention is widely practiced in the United States," Reference: http://www.medterms.com/script/main/art.asp?articlekey=34214 . Some interventions can be used for diagnosis.
definition editor: YH
definition source: WEB: http://wiki.answers.com/Q/What_is_medical_intervention
imported from: oae.owl

coagulopathy AE
type: Class
subclass of: intracerebral hemorrhage
definition: coagulopathy AE results in the impairment of blood to clot causing ecessive or prolonged bleeding.
definition editor: SJ, YH
alternative term: bleeding disorder
alternative term: clotting disorder
definition source: WEB: http://en.wikipedia.org/wiki/Coagulopathy
imported from: oae.owl
has_MedDRA_id: 10009802
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/22693291
alternative_term: Coagulopathy Hemorrhage
from pub med: true

brain AE
type: Class
subclass of: adverse event
definition: an adverse event that occurs in brain.
definition editor: YH
alternative term: brain disorder AE
imported from: oae.owl

brain herniation AE
type: Class
subclass of: brain AE
definition: a brain disorder AE that results in brain tissue, cerebrospinal fluid, and blood vessels being moved or pressed away from their usual position inside the skull.
definition editor: SJ, YH
definition source: WEB: http://www.nlm.nih.gov/medlineplus/ency/article/001421.htm
imported from: oae.owl
has_MedDRA_id: 10006126
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/25260205
has_related_synonym: Idiopathic Brain Herniation
from pub med: true

brain injury AE
type: Class
subclass of: structural etiology
definition: a brain injury AE, injury to the brain caused by an external force, that results in a brain AE
definition editor: SJ, YH
alternative term: Traumatic Brain Injury
definition source: WEB: http://www.biausa.org/FAQRetrieve.aspx?ID=43913
imported from: oae.owl
has_MedDRA_id: 10067967
from ILAE: true

acupuncture
type: Class
subclass of: medical intervention
definition: Acupuncture is the stimulation of specific acupuncture points along the skin of the body using thin needles. It can be associated with the application of heat, pressure, or laser light to these same points.
definition editor: JX, LW
definition source: WEB: http://en.wikipedia.org/wiki/Acupuncture
imported from: oae.owl
has_MedDRA_id: 10000646
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29888583
alternative_term: acupuncture therapy
from pub med: true

neurotransmitter levels
type: Class
subclass of: clinical measurement
definition: The amount of a neurotransmitter.
imported from: oba.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/25819950
alternative_term: amount of neurotransmitter
has_obo_namespace: oba
id: OBA:0000116
from pub med: true

blood ammonia amount
type: Class
subclass of: blood electrolyte measurement
definition: The amount of a ammonia when measured in blood.
imported from: oba.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28288363
alternative_term: blood ammonia amount
from pub med: true

planned process
type: Class
subclass of: process
editor preferred label: planned process
example of usage: Injecting mice with a vaccine in order to test its efficacy
has curation status: IAO_0000122
definition: A processual entity that realizes a plan which is the concretization of a plan specification.
editor note: 'Plan' includes a future direction sense. That can be problematic if plans are changed during their execution. There are however implicit contingencies for protocols that an agent has in his mind that can be considered part of the plan, even if the agent didn't have them in mind before. Therefore, a planned process can diverge from what the agent would have said the plan was before executing it, by adjusting to problems encountered during execution (e.g. choosing another reagent with equivalent properties, if the originally planned one has run out.)
editor note: We are only considering successfully completed planned processes. A plan may be modified, and details added during execution. For a given planned process, the associated realized plan specification is the one encompassing all changes made during execution. This means that all processes in which an agent acts towards achieving some objectives is a planned process.
definition editor: Bjoern Peters
definition source: branch derived
curator note: 6/11/9: Edited at workshop. Used to include: is initiated by an agent
curator note: This class merges the previously separated objective driven process and planned process, as they the separation proved hard to maintain. (1/22/09, branch call)
imported from: ero.owl
imported from: oae.owl
imported from: obi.owl
imported from: ogms.owl
imported from: vo.owl

processed material
type: Class
subclass of: material entity
editor preferred label: processed material
example of usage: Examples include gel matrices, filter paper, parafilm and buffer solutions, mass spectrometer, tissue samples
has curation status: IAO_0000122
definition: Is a material entity that is created or changed during material processing.
definition editor: PERSON: Alan Ruttenberg
imported from: obi.owl

assay
type: Class
subclass of: planned process
editor preferred label: assay
example of usage: Assay the wavelength of light emitted by excited Neon atoms. Count of geese flying over a house.
has curation status: IAO_0000122
definition: A planned process with the objective to produce information about some evaluant
definition: A planned process with the objective to produce information about the material entity that is the evaluant, by physically examining it or its proxies.
editor note: 12/3/12: BP: the reference to the 'physical examination' is included to point out that a prediction is not an assay, as that does not require physical examiniation.
definition editor: PlanAndPlannedProcess Branch
alternative term: measuring
alternative term: scientific observation
definition source: OBI branch derived
imported from: ero.owl
imported from: obi.owl
ISA alternative term: study assay
IEDB alternative term: any method

material processing
type: Class
subclass of: technique
editor preferred label: material processing
example of usage: A cell lysis, production of a cloning vector, creating a buffer.
has curation status: IAO_0000122
definition: A planned process which results in physical changes in a specified input material
definition editor: PERSON: Bjoern Peters
definition editor: PERSON: Frank Gibson
definition editor: PERSON: Jennifer Fostel
definition editor: PERSON: Melanie Courtot
definition editor: PERSON: Philippe Rocca Serra
alternative term: material transformation
definition source: OBI branch derived
imported from: ero.owl
imported from: obi.owl

extracellular electrophysiology recording assay
type: Class
subclass of: assay
editor preferred label: extracellular electrophysiology recording assay
example of usage: The recording of a spike train in the caudate nucleus of a monkey where the electrodes are extra cellular, i.e. not in the neuron
has curation status: IAO_0000120
definition: An electrophysiology recording assay where the recording location of the electrode is extracellular
definition editor: Frank Gibson
definition editor: Helen Parkinson
definition source: Frank Gibson
imported from: obi.owl

DNA sequencing
type: Class
subclass of: nucleic acid assay
editor preferred label: DNA sequencing
example of usage: Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing. Thauvin-Robinet C, Franco B, Saugier-Veber P, Aral B, Gigot N, Donzel A, Van Maldergem L, Bieth E, Layet V, Mathieu M, Teebi A, Lespinasse J, Callier P, Mugneret F, Masurel-Paulet A, Gautier E, Huet F, Teyssier JR, Tosi M, Frébourg T, Faivre L. Hum Mutat. 2008 Nov 19. PMID: 19023858
has curation status: IAO_0000123
definition: DNA sequencing is a sequencing process which uses deoxyribonucleic acid as input and results in a the creation of DNA sequence information artifact using a DNA sequencer instrument.
definition editor: Philippe Rocca-Serra
definition source: OBI Branch derived
imported from: ero.owl
imported from: obi.owl

device
type: Class
subclass of: processed material
editor preferred label: device
example of usage: A voltmeter is a measurement device which is intended to perform some measure function.
example of usage: An autoclave is a device that sterlizes instruments or contaminated waste by applying high temperature and pressure.
has curation status: IAO_0000122
definition: A material entity that is designed to perform a function in a scientific investigation, but is not a reagent.
editor note: 2012-12-17 JAO: In common lab usage, there is a distinction made between devices and reagents that is difficult to model. Therefore we have chosen to specifically exclude reagents from the definition of "device", and are enumerating the types of roles that a reagent can perform. 2013-6-5 MHB: The following clarifications are outcomes of the May 2013 Philly Workshop. Reagents are distinguished from devices that also participate in scientific techniques by the fact that reagents are chemical or biological in nature and necessarily participate in some chemical interaction or reaction during the realization of their experimental role. By contrast, devices do not participate in such chemical reactions/interactions. Note that there are cases where devices use reagent components during their operation, where the reagent-device distinction is less clear. For example: (1) An HPLC machine is considered a device, but has a column that holds a stationary phase resin as an operational component. This resin qualifies as a device if it participates purely in size exclusion, but bears a reagent role that is realized in the running of a column if it interacts electrostatically or chemically with the evaluant. The container the resin is in (“the column”) considered alone is a device. So the entire column as well as the entire HPLC machine are devices that have a reagent as an operating part. (2) A pH meter is a device, but its electrode component bears a reagent role in virtue of its interacting directly with the evaluant in execution of an assay. (3) A gel running box is a device that has a metallic lead as a component that participates in a chemical reaction with the running buffer when a charge is passed through it. This metallic lead is considered to have a reagent role as a component of this device realized in the running of a gel. In the examples above, a reagent is an operational component of a device, but the device itself does not realize a reagent role (as bearing a reagent…
definition editor: PERSON: Helen Parkinson
alternative term: instrument
definition source: OBI development call 2012-12-17.
imported from: obi.owl

assay array
type: Class
subclass of: device
editor preferred label: assay array
has curation status: IAO_0000120
definition: A device made to be used in an analyte assay for immobilization of substances that bind the analyte at regular spatial positions on a surface.
definition editor: PERSON: Chris Stoeckert, Jie Zheng, Alan Ruttenberg
definition source: Penn Group
imported from: obi.owl

electroencephalography
type: Class
subclass of: extracellular electrophysiology recording assay
subclass of: Restriction
  some values from: epilepsy
subclass of: Restriction
  on property: isDiagnosisFor
  some values from: epilepsy
editor preferred label: electroencephalography
has curation status: IAO_0000123
definition: An extracellular electrophysiology assay where electrodes are mounted outside the brain (either on the surface of the scalp on onto the brain surface itself during surgery) to measure the electrical field over the external surface.
definition editor: Gully Burns
alternative term: EEG
imported from: obi.owl
from EPILONT: true
from ESSO: true

microarray
type: Class
subclass of: assay array
editor preferred label: microarray
example of usage: An affymetrix U133 array is a microarray. Microarrays include 1 and 2-color arrays, custom and commercial arrays (e.g, Affymetrix, Agilent, Nimblegen, Illumina, etc.) for expression profiling, DNA variant detection, protein binding, and other genomic and functional genomic assays.
has curation status: IAO_0000122
definition: A processed material that is made to be used in an analyte assay. It consists of a physical immobilisation matrix in which substances that bind the analyte are placed in regular spatial position.
definition editor: Daniel Schober
definition source: PERSON: Chris Stoeckert
imported from: obi.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26033084
from pub med: true

allergy
type: Class
subclass of: Abnormality of immune system physiology
editor preferred label: allergy
has curation status: IAO_0000123
definition: is a disease in which an abnormally strong inflammatory immune response is triggered against non-self entities, and the immune response has no protective effect
definition editor: IEDB
definition source: IEDB
imported from: obi.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/20161538
alternative_term: Allergies
from pub med: true

clinical finding
type: Class
subclass of: clinical data item
definition: A representation that is either the output of a clinical history taking or a physical examination or an image finding, or some combination thereof.
definition editor: Albert Goldfain
definition source: http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf
curator note: creation date: 2010-07-19T10:18:02Z
imported from: mfomd.owl
imported from: ogms.owl

clinical history
type: Class
subclass of: clinical data item
definition: A series of statements representing health-relevant qualities of a patient and of a patient's family.
definition editor: Albert Goldfain
definition source: http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf
curator note: creation date: 2010-07-19T10:18:59Z
imported from: ogms.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28190753
from ESSO: true
from pub med: true

laboratory finding
type: Class
subclass of: clinical finding
definition: A representation of a quality of a specimen that is the output of a laboratory test and that can support an inference to an assertion about some quality of the patient.
definition editor: Albert Goldfain
definition source: http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf
curator note: creation date: 2009-06-23T10:21:58Z
imported from: mfomd.owl

sign
type: Class
subclass of: entity
definition: A quality of a patient, a material entity that is part of a patient, or a processual entity that a patient participates in, any one of which is observed in a physical examination and is deemed by the clinician to be of clinical significance.
editor note: note: defined class
definition editor: Albert Goldfain
definition source: http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf
curator note: creation date: 2010-11-18T11:14:36Z
imported from: ogms.owl

vital sign
type: Class
subclass of: sign
definition: A physical sign in which a non-zero value is standardly considered to be an indication that the organism is alive.
definition editor: Albert Goldfain
definition source: http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf
curator note: creation date: 2009-06-23T11:19:17Z
imported from: ogms.owl
from ESSO: true

homeostasis
type: Class
subclass of: disposition
definition editor: Albert Goldfain
curator note: creation date: 2009-06-23T11:22:01Z
imported from: ogms.owl
has definition: Homeostasis is defined as the property of a system in which variables are regulated so that internal conditions remain stable and relatively constant. Examples of homeostasis include the regulation of body temperature, and the balance between acidity and alkalinity. It is a process that maintains the stability of the organism’s internal environment in response to fluctuations in external environmental conditions.

Axiom
annotated source: homeostasis
annotated property: hasDefinition
annotated target: Homeostasis is defined as the property of a system in which variables are regulated so that internal conditions remain stable and relatively constant. Examples of homeostasis include the regulation of body temperature, and the balance between acidity and alkalinity. It is a process that maintains the stability of the organism’s internal environment in response to fluctuations in external environmental conditions.

abnormal homeostasis
type: Class
subclass of: homeostasis
definition: Homeostasis that is clinically abnormal for an organism of a given type and age in a given environment.
definition editor: Albert Goldfain
definition source: http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf
curator note: creation date: 2009-06-23T11:26:44Z
imported from: ogms.owl

disorder
type: Class
subclass of: material entity
definition: A material entity which is clinically abnormal and part of an extended organism. Disorders are the physical basis of disease.
definition editor: Albert Goldfain
definition source: http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf
curator note: creation date: 2009-06-23T11:39:44Z
imported from: ogms.owl

physical examination
type: Class
subclass of: health care process assay
definition: A sequence of acts of observing and measuring qualities of a patient performed by a clinician; measurements may occur with and without elicitation.
definition editor: Albert Goldfain
definition source: http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf
curator note: creation date: 2010-07-19T11:50:18Z
imported from: ogms.owl
from ESSO: true

bodily process
type: Class
subclass of: process
definition: A process in which at least one bodily component of an organsim participates.
definition editor: Albert Goldfain
definition source: http://www.jbiomedsem.com/content/1/1/10
curator note: creation date: 2009-06-23T11:53:49Z
imported from: mfomd.owl
imported from: oae.owl
imported from: ogms.owl
comment: From OGMS: http://purl.obolibrary.org/obo/OGMS_0000060

pathological bodily process
type: Class
subclass of: bodily process
definition: A bodily process that is clinically abnormal.
definition editor: Albert Goldfain
definition source: http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf
curator note: creation date: 2009-06-23T11:54:29Z
imported from: mfomd.owl
imported from: oae.owl
imported from: ogms.owl

diagnosis
type: Class
subclass of: clinical data item
subclass of: Restriction
  on property: isDiagnosisFor
  some values from: epilepsy
definition: The representation of a conclusion of a diagnostic process.
definition editor: Albert Goldfain
definition source: http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf
curator note: creation date: 2009-06-23T12:42:23Z
imported from: ogms.owl
from article: true

physical examination finding
type: Class
subclass of: clinical finding
definition: TODO: Define.
definition editor: Albert Goldfain
definition source: http://code.google.com/p/ogms/issues/detail
curator note: creation date: 2009-11-24T04:51:11Z
imported from: mfomd.owl
imported from: ogms.owl
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK361/
has definition: The information regarding anatomic findings obtained through the use of observation, palpation, percussion, and auscultation.
comment on definition: Modified definition
from NCBI book: true

treatment
type: Class
subclass of: planned process
subclass of: Restriction
  on property: isTreatmentFor
  some values from: epilepsy
definition: A planned process whose completion is hypothesized by a health care provider to eliminate, prevent, or alleviate the signs and symptoms of a disorder or pathological process
definition editor: Albert Goldfain
definition source: http://code.google.com/p/ogms/issues/detail
curator note: creation date: 2010-03-31T04:51:11Z
imported from: ogms.owl
has_related_synonym: Treatment of epilepsy
from ESSO: true

health care process
type: Class
subclass of: planned process
definition: A planned process with the objective to improve the health status of a patient that directly involves the treatment, diagnosis, or prevention of disease or injury of a patient
definition editor: Albert Goldfain Sagar Jain
definition source: http://groups.google.com/group/ogms-discuss/browse_thread/thread/a2dbc2ed1dff99d6
curator note: creation date: 2011-02-21T09:57:44Z editor date: 2017-04-18
imported from: ogms.owl

injury
type: Class
subclass of: disorder
subclass of: Restriction
  on property: isRiskFactorFor
  some values from: epilepsy
definition: A disorder that involves some structural damage that is immediately caused by a catastrophic external force.
editor note: At the scale of organism (as opposed to the cellular scale or the population scale), an injury is typically the result of a catastrophic event. Consider the implications of making 'injury' a subtype of 'disorder'. Note: Adopted subtype of disorder, and injury can occur at the scale of organism down to cellular level.
definition editor: Albert Goldfain Sagar Jain
definition source: http://groups.google.com/group/ogms-discuss/browse_thread/thread/ca0ad373f27774c5 OGMS call adoption- 16 SEPT 2015 https://docs.google.com/document/d/1iiV1-fTS7BUUSzDw3N_Afx42698YWf54-FOTY2NkAxo/edit
curator note: creation date: 2011-09-20T09:57:44Z edited date: 30 SEPT 2015
imported from: ogms.owl
from article: true

health care process assay
type: Class
subclass of: health care process
definition: A health care process with the objective to produce information about the material entity that is the evaluant, by physically examining it or its proxies.
imported from: ogms.owl
date: creation: 16MAY2017

therapeutic procedure
type: Class
subclass of: treatment
definition: A treatment whose completion is hypothesized by a health care provider to eliminate a disorder or to alleviate the signs and symptoms of a disorder or pathological process.
curator note: Creation data: 2018-11-27
imported from: ogms.owl

immunotherapy procedure
type: Class
subclass of: therapeutic procedure
definition: A therapeutic procedure that uses immune system derived entities.
curator note: creation date: 2018-11-27
imported from: ogms.owl
has_related_synonym: Immunotherapy
from article: true

physical therapy procedure
type: Class
subclass of: therapeutic procedure
definition: a therapeutic procedure that uses physical conditioning
curator note: creation date: 2018-11-27
imported from: ogms.owl
has_related_synonym: Physical Therapy
from article: true

clinical data item
type: Class
subclass of: data item
definition: a data item that is about a patient and is the specified output of a health care process assay or diagnostic process
curator note: creation date: 2018-11-27
imported from: mfomd.owl
imported from: ogms.owl

comorbidity
type: Class
subclass of: diagnosis
definition: A diagnosis that is the outcome of a diagnostic process targeting a second or additional health problem.
definition editor: Alice Nzinga
definition editor: Mathias Brochhausen
alternative term: secondary infection, nosocomial infection
definition source: amended from http://en.wikipedia.org/wiki/Comorbidity
imported from: omiabis.owl
comment: It is argued that Comorbidity occurs due to a disposition established by a prior infection with a pathogenic organism of a different kind.
from ESSO: true

surgical procedure
type: Class
subclass of: planned process
example of usage: mastectomy / craniotomy / liver resection e.t.c.
definition: A planned process that uses operative manual and instrumental techniques on a patient to investigate and/or treat a pathological condition such as disease or injury, or to help improve bodily function or appearance.
definition source: http://en.wikipedia.org/wiki/Surgery
imported from: omiabis.owl
has exact synonym: Surgical intervention
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29107258
from pub med: true

Alpha Rhythm
type: Class
subclass of: Brain Waves
imported from: omit.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28951736
has definition: Brain waves characterized by a relatively high voltage or amplitude and a frequency of 8-13 Hz. They constitute the majority of waves recorded by EEG registering the activity of the parietal and occipital lobes when the individual is awake, but relaxed with the eyes closed.
from pub med: true

Axiom
annotated source: Alpha Rhythm
annotated property: hasDefinition
annotated target: Brain waves characterized by a relatively high voltage or amplitude and a frequency of 8-13 Hz. They constitute the majority of waves recorded by EEG registering the activity of the parietal and occipital lobes when the individual is awake, but relaxed with the eyes closed.

Aversive Therapy
type: Class
subclass of: Psychotherapy
imported from: omit.owl
has definition: A treatment that suppresses undesirable behavior by simultaneously exposing the subject to unpleasant consequences.
from article: true

Axiom
annotated source: Aversive Therapy
annotated property: hasDefinition
annotated target: A treatment that suppresses undesirable behavior by simultaneously exposing the subject to unpleasant consequences.

Beta Rhythm
type: Class
subclass of: Brain Waves
imported from: omit.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28951736
has definition: Brain waves with frequency between 15-30 Hz seen on EEG during wakefulness and mental activity.
has_related_synonym: Beta Activity
from pub med: true

Axiom
annotated source: Beta Rhythm
annotated property: hasDefinition
annotated target: Brain waves with frequency between 15-30 Hz seen on EEG during wakefulness and mental activity.

Delta Rhythm
type: Class
subclass of: Brain Waves
imported from: omit.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28951736
has definition: Brain waves seen on EEG characterized by a high amplitude and a frequency of 4 Hz and below. They are considered the "deep sleep waves" observed during sleep in dreamless states, infancy, and in some brain disorders.
from pub med: true

Axiom
annotated source: Delta Rhythm
annotated property: hasDefinition
annotated target: Brain waves seen on EEG characterized by a high amplitude and a frequency of 4 Hz and below. They are considered the "deep sleep waves" observed during sleep in dreamless states, infancy, and in some brain disorders.

Diet Therapy
type: Class
subclass of: Nutritional Therapy
imported from: omit.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/23515147
has definition: Adjusting the quantity and quality of food intake to improve health status of an individual. This term does not include the methods of food intake (Nutritional support).
from pub med: true

Axiom
annotated source: Diet Therapy
annotated property: hasDefinition
annotated target: Adjusting the quantity and quality of food intake to improve health status of an individual. This term does not include the methods of food intake (Nutritional support).

Eating
type: Class
subclass of: behavior
imported from: omit.owl
has definition: The consumption of edible substances.
from article: true
from ESSO: true

Axiom
annotated source: Eating
annotated property: hasDefinition
annotated target: The consumption of edible substances.

Eidetic Imagery
type: Class
subclass of: Behavioral Disorder
imported from: omit.owl
has definition: Eidetic imagery or childhood preoccupation is an activity engaged in by some children who are able to enjoy bringing vivid visual images into their mind allowing them to play and interact in an imaginary visual world.
from ILAE: true

Axiom
annotated source: Eidetic Imagery
annotated property: hasDefinition
annotated target: Eidetic imagery or childhood preoccupation is an activity engaged in by some children who are able to enjoy bringing vivid visual images into their mind allowing them to play and interact in an imaginary visual world.

Exercise Therapy
type: Class
subclass of: Rehabilitation
imported from: omit.owl
has definition: A regimen or plan of physical activities designed and prescribed for specific therapeutic goals. Its purpose is to restore normal musculoskeletal function or to reduce pain caused by diseases or injuries.
from article: true

Axiom
annotated source: Exercise Therapy
annotated property: hasDefinition
annotated target: A regimen or plan of physical activities designed and prescribed for specific therapeutic goals. Its purpose is to restore normal musculoskeletal function or to reduce pain caused by diseases or injuries.

First Aid
type: Class
subclass of: therapeutic procedure
imported from: omit.owl
has definition: Emergency care or treatment given to a person who suddenly becomes ill or injured before full medical services become available.
from article: true

Axiom
annotated source: First Aid
annotated property: hasDefinition
annotated target: Emergency care or treatment given to a person who suddenly becomes ill or injured before full medical services become available.

Gestures
type: Class
subclass of: behavior
imported from: omit.owl
has definition: Movement of a part of the body for the purpose of communication.
from article: true
from ESSO: true

Axiom
annotated source: Gestures
annotated property: hasDefinition
annotated target: Movement of a part of the body for the purpose of communication.

Hippocampus
type: Class
subclass of: cerebral cortex
imported from: omit.owl
has definition: A curved elongated ridge that extends over the floor of the descending horn of each lateral ventricle of the brain and consists of gray matter covered on the ventricular surface with white matter; The hippocampus is a part of the temporal lobe, which has a well established role in learning, memory and emotion.

Axiom
annotated source: Hippocampus
annotated property: hasDefinition
annotated target: A curved elongated ridge that extends over the floor of the descending horn of each lateral ventricle of the brain and consists of gray matter covered on the ventricular surface with white matter; The hippocampus is a part of the temporal lobe, which has a well established role in learning, memory and emotion.

Hunger
type: Class
subclass of: behavior
imported from: omit.owl
has definition: The desire for food generated by a sensation arising from the lack of food in the stomach.
from article: true
from ESSO: true

Axiom
annotated source: Hunger
annotated property: hasDefinition
annotated target: The desire for food generated by a sensation arising from the lack of food in the stomach.

Intelligence Tests
type: Class
subclass of: Research or Clinical Assessment Tool
imported from: omit.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/15608956
has definition: Standardized tests that measure the present general ability or aptitude for intellectual performance.
from pub med: true

Axiom
annotated source: Intelligence Tests
annotated property: hasDefinition
annotated target: Standardized tests that measure the present general ability or aptitude for intellectual performance.

Kidney Function Tests
type: Class
subclass of: assay
imported from: omit.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28288363
has definition: Laboratory tests used to evaluate how well the kidneys are working through examination of blood and urine.
alternative_term: renal function tests
from pub med: true

Axiom
annotated source: Kidney Function Tests
annotated property: hasDefinition
annotated target: Laboratory tests used to evaluate how well the kidneys are working through examination of blood and urine.

Kindling model
type: Class
subclass of: Model
imported from: omit.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/2871721
has definition: The repeated weak excitation of brain structures, that progressively increases sensitivity to the same stimulation. Over time, this can lower the threshold required to trigger seizures.
alternative_term: Kindling
from pub med: true

Axiom
annotated source: Kindling model
annotated property: hasDefinition
annotated target: The repeated weak excitation of brain structures, that progressively increases sensitivity to the same stimulation. Over time, this can lower the threshold required to trigger seizures.

Laughter
type: Class
subclass of: behavior
imported from: omit.owl
has definition: An involuntary expression of merriment and pleasure; it includes the patterned motor responses as well as the inarticulate vocalization.
has_related_synonym: laughing
from article: true
from ESSO: true

Axiom
annotated source: Laughter
annotated property: hasDefinition
annotated target: An involuntary expression of merriment and pleasure; it includes the patterned motor responses as well as the inarticulate vocalization.

Liver Function Tests
type: Class
subclass of: assay
imported from: omit.owl
has definition: Blood tests that are used to evaluate how well a patient's liver is working and also to help diagnose liver conditions.
from article: true

Axiom
annotated source: Liver Function Tests
annotated property: hasDefinition
annotated target: Blood tests that are used to evaluate how well a patient's liver is working and also to help diagnose liver conditions.

Photic Stimulation
type: Class
subclass of: technique
imported from: omit.owl
has definition: Investigative technique commonly used during electroencephalography in which a series of bright light flashes or visual patterns are used to elicit brain activity.
has_related_synonym: Noachter 1999 Photic Stimulation
from ESSO: true

Axiom
annotated source: Photic Stimulation
annotated property: hasDefinition
annotated target: Investigative technique commonly used during electroencephalography in which a series of bright light flashes or visual patterns are used to elicit brain activity.

Rejection (Psychology)
type: Class
subclass of: behavior
imported from: omit.owl
has definition: Non-acceptance, negative attitudes, hostility or excessive criticism of the individual which may precipitate feelings of rejection.
from ESSO: true

Axiom
annotated source: Rejection (Psychology)
annotated property: hasDefinition
annotated target: Non-acceptance, negative attitudes, hostility or excessive criticism of the individual which may precipitate feelings of rejection.

Sleep Deprivation
type: Class
subclass of: dyssomnia
imported from: omit.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/16059497
has definition: The state of being deprived of sleep under experimental conditions, due to life events, or from a wide variety of pathophysiologic causes such as medication effect, chronic illness, psychiatric illness, or sleep disorder.
from pub med: true

Axiom
annotated source: Sleep Deprivation
annotated property: hasDefinition
annotated target: The state of being deprived of sleep under experimental conditions, due to life events, or from a wide variety of pathophysiologic causes such as medication effect, chronic illness, psychiatric illness, or sleep disorder.

Speech Therapy
type: Class
subclass of: Rehabilitation
imported from: omit.owl
has definition: Treatment for individuals with speech defects and disorders that involves counseling and use of various exercises and aids to help the development of new speech habits.
from article: true

Axiom
annotated source: Speech Therapy
annotated property: hasDefinition
annotated target: Treatment for individuals with speech defects and disorders that involves counseling and use of various exercises and aids to help the development of new speech habits.

Theta Rhythm
type: Class
subclass of: Brain Waves
imported from: omit.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/3064627
has definition: Brain waves characterized by a frequency of 4-7 Hz, usually observed in the temporal lobes when the individual is awake, but relaxed and sleepy.
from pub med: true

Axiom
annotated source: Theta Rhythm
annotated property: hasDefinition
annotated target: Brain waves characterized by a frequency of 4-7 Hz, usually observed in the temporal lobes when the individual is awake, but relaxed and sleepy.

Yoga
type: Class
subclass of: therapeutic procedure
imported from: omit.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/10908505
has definition: A major orthodox system of Hindu philosophy based on Sankhya (metaphysical dualism) but differing from it in being theistic and characterized by the teaching of raja-yoga as a practical method of liberating the self. It includes a system of exercises for attaining bodily or mental control and well-being with liberation of the self and union with the universal spirit.
from pub med: true

Axiom
annotated source: Yoga
annotated property: hasDefinition
annotated target: A major orthodox system of Hindu philosophy based on Sankhya (metaphysical dualism) but differing from it in being theistic and characterized by the teaching of raja-yoga as a practical method of liberating the self. It includes a system of exercises for attaining bodily or mental control and well-being with liberation of the self and union with the universal spirit.

Head Injuries, Closed
type: Class
subclass of: Head Injury
imported from: omit.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/13789853
has definition: Traumatic injuries to the cranium where the integrity of the skull is not compromised and no bone fragments or other objects penetrate the skull and dura mater. This frequently results in mechanical injury being transmitted to intracranial structures which may produce traumatic brain injuries, hemorrhage, or cranial nerve injuries.
alternative_term: closed head injury
from pub med: true

Axiom
annotated source: Head Injuries, Closed
annotated property: hasDefinition
annotated target: Traumatic injuries to the cranium where the integrity of the skull is not compromised and no bone fragments or other objects penetrate the skull and dura mater. This frequently results in mechanical injury being transmitted to intracranial structures which may produce traumatic brain injuries, hemorrhage, or cranial nerve injuries.

Aromatherapy
type: Class
subclass of: Psychotherapy
imported from: omit.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/14630489
has definition: The use of fragrances and essences from plants to affect or alter a person's mood or behavior and to facilitate physical, mental, and emotional well-being. The chemicals comprising essential oils in plants has a host of therapeutic properties and has been used historically in Africa, Asia, and India. Its greatest application is in the field of alternative medicine.
from pub med: true

Axiom
annotated source: Aromatherapy
annotated property: hasDefinition
annotated target: The use of fragrances and essences from plants to affect or alter a person's mood or behavior and to facilitate physical, mental, and emotional well-being. The chemicals comprising essential oils in plants has a host of therapeutic properties and has been used historically in Africa, Asia, and India. Its greatest application is in the field of alternative medicine.

Craniofacial Abnormalities
type: Class
subclass of: musculoskeletal system disease
imported from: omit.owl
has definition: Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.
from article: true

Axiom
annotated source: Craniofacial Abnormalities
annotated property: hasDefinition
annotated target: Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.

Hemispherectomy
type: Class
subclass of: surgical procedure
imported from: omit.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26835338
has definition: A neurosurgical procedure that removes or disconnects the epileptogenic cerebral cortex of a hemisphere. Hemispherectomy is usually performed for patients with intractable unilateral epilepsy due to malformations of cortical development or brain lesions. Depending on the epileptogenic area in the hemisphere, cortical removal can be total or partial.
from pub med: true

Axiom
annotated source: Hemispherectomy
annotated property: hasDefinition
annotated target: A neurosurgical procedure that removes or disconnects the epileptogenic cerebral cortex of a hemisphere. Hemispherectomy is usually performed for patients with intractable unilateral epilepsy due to malformations of cortical development or brain lesions. Depending on the epileptogenic area in the hemisphere, cortical removal can be total or partial.

Ketogenic Diet
type: Class
subclass of: Diet Therapy
imported from: omit.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30760973
has definition: A course of food intake that is high in fats and low in carbohydrates. This diet provides sufficient proteins for growth but insufficient amount of carbohydrates for the energy needs of the body. A ketogenic diet generates 80-90% of caloric requirements from fats and the remainder from proteins.
from pub med: true

Axiom
annotated source: Ketogenic Diet
annotated property: hasDefinition
annotated target: A course of food intake that is high in fats and low in carbohydrates. This diet provides sufficient proteins for growth but insufficient amount of carbohydrates for the energy needs of the body. A ketogenic diet generates 80-90% of caloric requirements from fats and the remainder from proteins.

Vagus Nerve Stimulation
type: Class
subclass of: therapeutic procedure
imported from: omit.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/22826811
has definition: An adjunctive treatment for partial epilepsy and refractory depression that delivers electrical impulses to the brain via the vagus nerve. A battery implanted under the skin supplies the energy.
from pub med: true

Axiom
annotated source: Vagus Nerve Stimulation
annotated property: hasDefinition
annotated target: An adjunctive treatment for partial epilepsy and refractory depression that delivers electrical impulses to the brain via the vagus nerve. A battery implanted under the skin supplies the energy.

Endophenotypes
type: Class
subclass of: quality
imported from: omit.owl
has definition: An endophenotype (also known as intermediate phenotype) is a quantitative biological trait that is reliable in reflecting the function of a discrete biological system and is reasonably heritable, and as such is more closely related to the root cause of the disease than the broad clinical phenotype.
from article: true

Axiom
annotated source: Endophenotypes
annotated property: hasDefinition
annotated target: An endophenotype (also known as intermediate phenotype) is a quantitative biological trait that is reliable in reflecting the function of a discrete biological system and is reasonably heritable, and as such is more closely related to the root cause of the disease than the broad clinical phenotype.

Brain Waves
type: Class
subclass of: electroencephalography
imported from: omit.owl
has definition: Wave-like oscillations of electric potential between parts of the brain recorded by EEG.
has_related_synonym: Noachter 1999 Brain Wave
from ESSO: true

Axiom
annotated source: Brain Waves
annotated property: hasDefinition
annotated target: Wave-like oscillations of electric potential between parts of the brain recorded by EEG.

Cerebral Small Vessel Diseases
type: Class
subclass of: cerebrovascular disease
imported from: omit.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28214547
has definition: Pathological processes or diseases where cerebral MICROVESSELS show abnormalities. They are often associated with aging, hypertension and risk factors for lacunar infarcts.
from pub med: true

Axiom
annotated source: Cerebral Small Vessel Diseases
annotated property: hasDefinition
annotated target: Pathological processes or diseases where cerebral MICROVESSELS show abnormalities. They are often associated with aging, hypertension and risk factors for lacunar infarcts.

Neuroimaging
type: Class
subclass of: imaging technique
subclass of: Restriction
  some values from: epilepsy
imported from: omit.owl
has definition: Non-invasive methods of visualizing the central nervous system, especially the brain, by various imaging modalities.
from ESSO: true

Axiom
annotated source: Neuroimaging
annotated property: hasDefinition
annotated target: Non-invasive methods of visualizing the central nervous system, especially the brain, by various imaging modalities.

Functional Neuroimaging
type: Class
subclass of: Neuroimaging
subclass of: Restriction
  some values from: epilepsy
imported from: omit.owl
has definition: Methods for visualizing regional blood flow, metabolic, electrical, or other physiological activities in the central nervous system using various imaging modalities.
alternative_term: Neuroimaging Test Functional
from ESSO: true

Axiom
annotated source: Functional Neuroimaging
annotated property: hasDefinition
annotated target: Methods for visualizing regional blood flow, metabolic, electrical, or other physiological activities in the central nervous system using various imaging modalities.

Prodromal Symptoms
type: Class
subclass of: symptom
imported from: omit.owl
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK2609/
has definition: Clinical or physiological indicators that precede the onset of disease.
has_related_synonym: prodrome
from NCBI book: true

Axiom
annotated source: Prodromal Symptoms
annotated property: hasDefinition
annotated target: Clinical or physiological indicators that precede the onset of disease.

Gamma Rhythm
type: Class
subclass of: Brain Waves
imported from: omit.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/24686330
has definition: Brain waves characterized by a relatively high voltage or amplitude and a frequency of approximately 30-100 Hz. They are primarily observed during network engagement and sensory processing activities, during both waking and sleeping states.
from ESSO: true
from pub med: true

Axiom
annotated source: Gamma Rhythm
annotated property: hasDefinition
annotated target: Brain waves characterized by a relatively high voltage or amplitude and a frequency of approximately 30-100 Hz. They are primarily observed during network engagement and sensory processing activities, during both waking and sleeping states.

sensitivity toward
type: Class
subclass of: organismal quality
definition: A quality inhering in a bearer by virtue of the bearer's disposition to detect or perceive external stimulation.
imported from: pato.owl
alternative_term: sensitivity
has_obo_namespace: quality
id: PATO:0000085
in subset: attribute slim
in subset: disposition slim
in subset: relational slim

orientation
type: Class
subclass of: position
definition: A spatial quality inhering in a bearer by virtue of the bearer's placement which is defined by the angle between the bearer and an axis, or the angle between the bearer and another object.
imported from: pato.owl
has_alternative_id: PATO:0000137
alternative_term: angular placement
has_obo_namespace: quality
has_related_synonym: amount of rotation
has_related_synonym: angle
has_related_synonym: angular magnitude
has_related_synonym: plane angle
id: PATO:0000133
in subset: attribute slim
in subset: relational slim

position
type: Class
subclass of: physical quality
definition: A spatial quality inhering in a bearer by virtue of the bearer's spatial location relative to other objects in the vicinity.
imported from: pato.owl
has_alternative_id: PATO:0001032
has_alternative_id: PATO:0001631
alternative_term: location
alternative_term: placement
alternative_term: relational spatial quality
has_obo_namespace: quality
id: PATO:0000140
in subset: attribute slim

rate
type: Class
subclass of: physical quality of a process
definition: A quality of a single process inhering in a bearer by virtue of the bearer's occurrence per unit time.
imported from: pato.owl
has_obo_namespace: quality
id: PATO:0000161
in subset: attribute slim
in subset: scalar slim

photosensitivity
type: Class
subclass of: sensitivity toward
definition: A quality inhering in a bearer by virtue of the bearer's disposition to being sensitivity to the action of radiant energy.
imported from: pato.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28532712
has_obo_namespace: quality
id: PATO:0000927
in subset: attribute slim
in subset: disposition slim
in subset: scalar slim
from ESSO: true
from pub med: true

physical quality
type: Class
subclass of: physical object quality
definition: A quality of a physical entity that exists through action of continuants at the physical level of organisation in relation to other entities.
imported from: pato.owl
has_alternative_id: PATO:0002079
database_cross_reference: Wikipedia:Physical_property
alternative_term: relational physical quality
has_obo_namespace: quality
id: PATO:0001018
in subset: attribute slim

process quality
type: Class
subclass of: quality
definition: A quality which inheres in an process.
imported from: pato.owl
has_alternative_id: PATO:0001239
has_alternative_id: PATO:0001240
alternative_term: quality of a process
alternative_term: quality of occurrent
alternative_term: quality of process
alternative_term: relational quality of occurrent
has_obo_namespace: quality
id: PATO:0001236
comment: See comments of relational quality of a physical entity.

physical object quality
type: Class
subclass of: quality
definition: A quality which inheres in a continuant.
imported from: pato.owl
has_alternative_id: PATO:0001237
has_alternative_id: PATO:0001238
database_cross_reference: snap:Quality
alternative_term: monadic quality of a continuant
alternative_term: multiply inhering quality of a physical entity
alternative_term: quality of a continuant
alternative_term: quality of a single physical entity
alternative_term: quality of an object
alternative_term: quality of continuant
has_narrow_synonym: monadic quality of an object
has_narrow_synonym: monadic quality of continuant
has_obo_namespace: quality
id: PATO:0001241
comment: Relational qualities are qualities that hold between multiple entities. Normal (monadic) qualities such as the shape of a eyeball exist purely as a quality of that eyeball. A relational quality such as sensitivity to light is a quality of that eyeball (and connecting nervous system) as it relates to incoming light waves/particles.

physiological state
type: Class
subclass of: rate
definition: A quality of a single process inhering in a bearer by virtue of the state of bearer's mechanical, physical, and biochemical processes.
imported from: pato.owl
has_obo_namespace: quality
id: PATO:0001912

ictal
type: Class
subclass of: physiological state
subclass of: Restriction
  some values from: epilepsy
definition: A physiological state which is characterized by periods of high-frequency high amplitude electrical activity in neuronal tissue.
imported from: pato.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/32154929
has_obo_namespace: quality
id: PATO:0001913
from ESSO: true
from pub med: true

organismal quality
type: Class
subclass of: physical object quality
definition: A quality that inheres in an entire organism or part of an organism.
imported from: pato.owl
has_obo_namespace: quality
id: PATO:0001995

physical quality of a process
type: Class
subclass of: process quality
imported from: pato.owl
created_by: george
creation_date: 2009-06-05T09:16:46Z
has_obo_namespace: quality
id: PATO:0002062
in subset: attribute slim

abduction
type: Class
subclass of: displaced to
definition: A displaced angular placement quality inhering in a body part by virtue of the bearer's movement away from the medial plane of the body.
imported from: pato.owl
created_by: george
creation_date: 2009-10-13T06:38:53Z
has_obo_namespace: quality
id: PATO:0002131
in subset: attribute slim
in subset: relational slim
from ESSO: true

displaced to
type: Class
subclass of: orientation
definition: An angular placement quality inhering in a bearer by virtue of the bearer being changed in position in relation to another entity.
imported from: pato.owl
created_by: george
creation_date: 2010-01-14T04:45:18Z
has_obo_namespace: quality
has_related_synonym: mislocalised to
id: PATO:0002168
in subset: relational slim

pathway
type: Class
subclass of: cellular process
definition: A pathway is a set of inter-connected reactions and interactions whose delineation and scope are used as a model for exploring and studying, describing and understanding the working of and relationships between biomolecules within a context.
imported from: pw.owl
has_obo_namespace: pathway
id: PW:0000001

mitogen activated protein kinase signaling pathway
type: Class
subclass of: signal transduction
definition: The mitogen -activated protein kinase pathway groups several serine/threonine protein kinases mediated cascades in response to a number of extracellular stimuli. A characteristic feature of these cascades is the presence of at least three kinases in series leading to the activation of a multifunctional MAP kinase.
imported from: pw.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26677173
has_obo_namespace: pathway
has_related_synonym: KEGG:04010
has_related_synonym: MAPK signaling pathway
id: PW:0000007
from pub med: true

immune response pathway
type: Class
subclass of: pathway
definition: The Immune response pathways mediate the defense of host cells against infection and injury. The first line of defense is provided by the phylogenetically older innate immune response. The later, more versatile response is provided by the pathways of adaptive immunity: the B cell mediated humoral and the T cell mediated cellular or cell-mediated responses.
imported from: pw.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/27346214
has_obo_namespace: pathway
has_related_synonym: immune response
id: PW:0000023
from pub med: true

inflammatory response pathway
type: Class
subclass of: pathway
definition: Inflammation is the cellular response of the innate immune system to infection or injury. Sensing of infection by pattern recognition receptors triggers signaling cascades leading to the expression of mediator genes such as the pro-inflammatory cytokines.
imported from: pw.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30912766
has_obo_namespace: pathway
has_related_synonym: CLR signaling pathway
id: PW:0000024
from pub med: true

long term potentiation
type: Class
subclass of: pathway
definition: Long-term potentiation (LTP) is a strengthening of the synapse that can last from hours to days and months. It is thought to underlie information storage and constitute the cellular basis of learning and memory. LTP engages numerous cascades of events on either side of the synapse and is accompanied by changes in gene expression.
imported from: pw.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29467619
has_obo_namespace: pathway
has_related_synonym: KEGG:04720
has_related_synonym: LTP
id: PW:0000060
from pub med: true

lysine degradation pathway
type: Class
subclass of: pathway
definition: Those metabolic reactions involved in the degradation of lysine. In mammals, lysine is metabolized to acetyl-CoA. A derivative of lysine, allysine, is used in the production of elastin and collagen.
imported from: pw.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30767241
has_obo_namespace: pathway
has_related_synonym: KEGG:00310
has_related_synonym: SMP:00037
id: PW:0000073
from pub med: true

transport pathway
type: Class
subclass of: pathway
definition: A pathway that mediates or facilitates the movement of biochemical material, organic and inorganic substances and/or drugs.
imported from: pw.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/23252947
has_obo_namespace: pathway
id: PW:0000103
from pub med: true

vitamin B6 metabolic pathway
type: Class
subclass of: pathway
definition: Those metabolic reactions involving vitamin B6 - a water-soluble vitamin that exists in several forms. Vitamin B6 is required for many enzymatic reactions as the active pyridoxal 5'-phosphate (PLP) form. A number of organisms can carry out de novo synthesis of vitamin B6; humans derive it from diet.
imported from: pw.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/24114605
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30767241
alternative_term: vitamin B6 metabolism
has_obo_namespace: pathway
has_related_synonym: KEGG:00750
has_related_synonym: SMP:00017
has_related_synonym: pyridoxine metabolic pathway
id: PW:0000138
from pub med: true

mTOR signaling pathway
type: Class
subclass of: signal transduction
definition: mTOR signaling pathway regulates cellular processes such as translation, ribosome biogenesis, cell growth and autophagy and is regulated or responds to growth factors, energy metabolites and/or levels of nutrients.
imported from: pw.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29359340
has_obo_namespace: pathway
has_related_synonym: KEGG:04150
has_related_synonym: PID:200096
id: PW:0000180
from pub med: true

Notch signaling pathway
type: Class
subclass of: signal transduction
definition: Notch signaling pathway regulates processes involved in early embryonic development. It plays an important role in cell fate determination. Target genes of Notch have been implicated in angiogenesis, somitogenesis, gliogenesis. Deregulation of the Notch signaling pathway underlies a broad spectrum of diseases and clinical conditions.
imported from: pw.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29737480
alternative_term: Notch signaling
has_obo_namespace: pathway
has_related_synonym: KEGG:04330
has_related_synonym: PID:200015
id: PW:0000204
from pub med: true

innate immune response pathway
type: Class
subclass of: immune response pathway
definition: The innate immune response - a universal and ancient form of host defense against infection - is a first line of response to various pathogens and also to damaged cells. It plays a role in stimulating adaptive immunity; molecules generated during innate responses act as second signals that can impact on both the magnitude and the nature of the adaptive response.
imported from: pw.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26260962
has_obo_namespace: pathway
has_related_synonym: innate immunity
id: PW:0000234
from pub med: true

protein degradation pathway
type: Class
subclass of: pathway
definition: Those pathways involved in the degradation of proteins.
imported from: pw.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/24914213
has_obo_namespace: pathway
has_related_synonym: Protein degradation
id: PW:0000325
from pub med: true

Reelin signaling pathway
type: Class
subclass of: signal transduction
definition: The reelin signaling pathway regulates neuronal positioning and may also play a role in synaptic plasticity. The reelin gene appears to be downregulated in schizophrenic brains but the link between the reelin pathway and the disease remains to be established.
imported from: pw.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29512697
has_obo_namespace: pathway
has_related_synonym: PID:200062
id: PW:0000388
from pub med: true

brain-derived neurotrophic factor signaling pathway
type: Class
subclass of: signal transduction
definition: Brain-derived neurotrophic factor (BDNF) signaling pathway plays important roles in the growth, differentiation and survival of neurons, particularly the striatal neurons. BDNF signals via the tropomyosin-related kinase receptor type B (TrkB) to activate PKC, PI3K-AKT and MAPK/ERK intracellular pathways. Impaired BDNF signaling contributes to the pathogenesis of conditions such as Huntington Disease (HD) and psychiatric disorders. Upregulation on the other hand, is associated with several malignancies.
imported from: pw.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30262417
has_obo_namespace: pathway
has_related_synonym: BDNF signaling pathway
id: PW:0000572
from pub med: true

phosphatidylinositol 3-kinase signaling pathway
type: Class
subclass of: signal transduction
definition: Phosphatidylinositol kinases represent a family of lipid kinases that phosphorylate the 3' position of the inositol ring in target substrates. They are grouped into three classes: class I further subdivided into subclass A and B, class II and class III. By far the best known and characterized is class I, particularly IA that signals downstream of receptor tyrosine kinases and engages the Akt family of kinases.
imported from: pw.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/17910583
alternative_term: PI3K-pathway
alternative_term: phosphatidylinositol 3-kinase pathway - give exact synonym
has_obo_namespace: pathway
has_related_synonym: KEGG:04070
has_related_synonym: PI3K signaling pathway
has_related_synonym: phosphoinositide 3-kinase signaling pathway
id: PW:0000595
from pub med: true

drug pathway
type: Class
subclass of: pathway
definition: The pharmacokinetics and the pharmacodynamics pathway elicited by the administration of specific drugs. The systems involved in drug processing and responses are also those handling exogenous, xenobiotic compounds in the cellular detoxification pathway. The distinction between a random encounter with a foreign compound and the processing of a substance administered for treatment along with the importance of genetic variation for the individual responses to particular drugs warrant their separate consideration.
imported from: pw.owl
created_by: VPetri
creation_date: 2010-03-15T11:01:15Z
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/25221392
has_obo_namespace: pathway
has_related_synonym: drug metabolism
id: PW:0000754
from pub med: true

glutamate signaling pathway
type: Class
subclass of: signal transduction
definition: Glutamate signaling via the ionotropic AMPA or NMDA and several metabotropic receptors plays important roles in the modulation of synaptic plasticity, long term depression or potentiation, and in learning and memory.
imported from: pw.owl
created_by: VPetri
creation_date: 2011-03-09T11:57:08Z
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/25433904
alternative_term: glutamatergic signaling
has_obo_namespace: pathway
has_related_synonym: KEGG:04724
id: PW:0000844
from pub med: true

gamma-aminobutyric acid signaling pathway
type: Class
subclass of: signal transduction
definition: Gamma-aminobutyric acid signals at inhibitory synapses via the type A receptor, which is part of a ligand-gated ion channel and the type B receptors which are metabotropic, G protein-coupled receptors.
imported from: pw.owl
created_by: VPetri
creation_date: 2011-03-09T02:10:16Z
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28074534
has_obo_namespace: pathway
has_related_synonym: KEGG:04727
id: PW:0000848
from pub med: true

calcium/calcium-mediated signaling pathway
type: Class
subclass of: signal transduction
definition: Calcium signaling impacts on a large and diverse spectrum of cellular processes such as gene expression and cell death, proliferation, muscle contraction and energy metabolism, learning, memory and synaptic plasticity. Calcium acts in signal transduction as a first as well as a second messenger. Calcium transport, which controls and maintains the calcium gradient, and calcium signaling, which the gradient promotes, are inextricably connected in the fabric of calcium homeostasis.
imported from: pw.owl
created_by: VPetri
creation_date: 2012-11-05T10:53:28Z
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/24723228
alternative_term: Calcium signaling
has_obo_namespace: pathway
has_related_synonym: KEGG:04020
id: PW:0001140
from pub med: true

GEPR
type: Class
subclass of: inbred strain
imported from: rs.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26254980
has definition: In genetically epilepsy-prone rats (GEPRs), 100% of the animals present recurrent generalized non-convulsive seizures characterized by bilateral and synchronous spike-and-wave discharges accompanied with behavioral arrest, staring and sometimes twitching of the vibrissae.
has_obo_namespace: rat_strain_ontology
has_related_synonym: RGD ID: 68042
id: RS:0000274
from pub med: true

Axiom
annotated source: GEPR
annotated property: hasDefinition
annotated target: In genetically epilepsy-prone rats (GEPRs), 100% of the animals present recurrent generalized non-convulsive seizures characterized by bilateral and synchronous spike-and-wave discharges accompanied with behavioral arrest, staring and sometimes twitching of the vibrissae.

rat strain
type: Class
subclass of: Rattus norvegicus
imported from: rs.owl
has_obo_namespace: rat_strain_ontology
id: RS:0000457

mutant strain
type: Class
subclass of: rat strain
definition: Rat strains carrying mutated alleles, spontaneously occurred, chemical-induced, genome-edited and others, are included in the mutant strain.
imported from: rs.owl
has_obo_namespace: rat_strain_ontology
id: RS:0000461

GAERS
type: Class
subclass of: inbred strain
imported from: rs.owl
has definition: Genetic Absence Epilepsy Rats from Strasbourg (GAERS) is a genetic model of absence seizures developed by inbreeding Wistar colonies that displayed spontaneous spike-and-wave discharges.
has_obo_namespace: rat_strain_ontology
id: RS:0000480
from pub med: true

Axiom
annotated source: GAERS
annotated property: hasDefinition
annotated target: Genetic Absence Epilepsy Rats from Strasbourg (GAERS) is a genetic model of absence seizures developed by inbreeding Wistar colonies that displayed spontaneous spike-and-wave discharges.

P77PMC
type: Class
subclass of: inbred strain
imported from: rs.owl
has definition: P77PMC rat is a breed of rat with congenital audiogenic seizure.
has_obo_namespace: rat_strain_ontology
has_related_synonym: RGD ID: 68115
id: RS:0000637
from pub med: true

Axiom
annotated source: P77PMC
annotated property: hasDefinition
annotated target: P77PMC rat is a breed of rat with congenital audiogenic seizure.

inbred strain
type: Class
subclass of: rat strain
definition: Inbred Strains are produced by brother x sister mating for 20 or more consecutive generations, and individuals of the strain can be traced to a single ancestral pair at the 20th or subsequent generation.
imported from: rs.owl
created_by: RNigam
creation_date: 2010-02-10T12:00:00Z
has_obo_namespace: rat_strain_ontology
id: RS:0000765

WAG/Rij
type: Class
subclass of: inbred strain
imported from: rs.owl
has definition: WAG/Rij rats, originally developed as an animal model of human absence epilepsy, share many electroencephalography and behavioral characteristics resembling absence epilepsy in humans, including the similarity of action of various antiepileptic drugs.
has_obo_namespace: rat_strain_ontology
has_related_synonym: RGD ID: 737924
id: RS:0000969
from pub med: true

Axiom
annotated source: WAG/Rij
annotated property: hasDefinition
annotated target: WAG/Rij rats, originally developed as an animal model of human absence epilepsy, share many electroencephalography and behavioral characteristics resembling absence epilepsy in humans, including the similarity of action of various antiepileptic drugs.

GRY/Idr
type: Class
subclass of: inbred strain
imported from: rs.owl
has definition: GRY inbred strain exhibit ataxia, inherited in an autosomal recessive manner and a missense (M251K) mutation in the alpha (1a) subunit of the P/Q-type voltage-gated Ca2+ channel gene Cacna1a was identified by positional cloning.
has_obo_namespace: rat_strain_ontology
has_related_synonym: RGD ID: 1599759
has_related_synonym: groggy rat
id: RS:0001318
from pub med: true

Axiom
annotated source: GRY/Idr
annotated property: hasDefinition
annotated target: GRY inbred strain exhibit ataxia, inherited in an autosomal recessive manner and a missense (M251K) mutation in the alpha (1a) subunit of the P/Q-type voltage-gated Ca2+ channel gene Cacna1a was identified by positional cloning.

F344-Adms/Kyo
type: Class
subclass of: mutant strain
imported from: rs.owl
created_by: RNigam
creation_date: 2010-01-05T12:00:00Z
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/25312505
has definition: Established by ENU mutagenesis. A missense mutant N1417H (4246A>G)was identified in the model.
has_obo_namespace: rat_strain_ontology
has_related_synonym: Boo
has_related_synonym: F344-Ker/Kyo
has_related_synonym: Kyoto Epileptic Rat
has_related_synonym: NBRP Rat No: 0458
has_related_synonym: RGD ID: 2314163
has_related_synonym: autosomal dominant myokymia and seizures rat
id: RS:0001872
from pub med: true

Axiom
annotated source: F344-Adms/Kyo
annotated property: hasDefinition
annotated target: Established by ENU mutagenesis. A missense mutant N1417H (4246A>G)was identified in the model.

F344-Scn1am1Kyo
type: Class
subclass of: mutant strain
imported from: rs.owl
created_by: RNigam
creation_date: 2010-01-05T12:00:00Z
has definition: Scn1a-targeted rats carrying a missense mutation (N1417H) in the third pore region of the sodium channel were developed by gene-driven ENU mutagenesis.
has_obo_namespace: rat_strain_ontology
has_related_synonym: F344-Scn1aKyo811/Kyo
has_related_synonym: NBRP Rat No: 0455
has_related_synonym: RGD ID: 2306042
id: RS:0001877
from pub med: true

Axiom
annotated source: F344-Scn1am1Kyo
annotated property: hasDefinition
annotated target: Scn1a-targeted rats carrying a missense mutation (N1417H) in the third pore region of the sodium channel were developed by gene-driven ENU mutagenesis.

F344-Lgi1m1Kyo
type: Class
subclass of: mutant strain
imported from: rs.owl
created_by: RNigam
creation_date: 2014-04-23T09:05:21Z
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/25312505
has definition: Developed by gene driven ENU mutagenesis in F344/NSlc rats. Lgi1-mutant rats carrying a missense mutation (c.1154 T > G)(L385R).
has_obo_namespace: rat_strain_ontology
has_related_synonym: Lgi1 mutant rat
has_related_synonym: NBRP Rat No: 0656
has_related_synonym: RGD ID: 8552275
id: RS:0003717
from pub med: true

Axiom
annotated source: F344-Lgi1m1Kyo
annotated property: hasDefinition
annotated target: Developed by gene driven ENU mutagenesis in F344/NSlc rats. Lgi1-mutant rats carrying a missense mutation (c.1154 T > G)(L385R).

SD-GEPR-9
type: Class
subclass of: inbred strain
imported from: rs.owl
created_by: sjwang
creation_date: 2017-02-21T09:41:16Z
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/25312505
has definition: Genetically Epilepsy-Prone Rats (GEPR-9) have severe levels of seizure predisposition. This colony was bred to exhibit clonic convulsions (severe seizures with an ARS of 9) following a single wild running phase in response to sound.
has_obo_namespace: rat_strain_ontology
has_related_synonym: RGD ID: 12738218
id: RS:0004315
from pub med: true

Axiom
annotated source: SD-GEPR-9
annotated property: hasDefinition
annotated target: Genetically Epilepsy-Prone Rats (GEPR-9) have severe levels of seizure predisposition. This colony was bred to exhibit clonic convulsions (severe seizures with an ARS of 9) following a single wild running phase in response to sound.

SD-GEPR-3
type: Class
subclass of: inbred strain
imported from: rs.owl
created_by: sjwang
creation_date: 2017-11-14T14:20:23Z
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/25312505
has definition: Genetically Epilepsy-Prone Rats (GEPR-3) have moderate levels of seizure predisposition. This colony,initially referred to as an AGS (audiogenic response score) colony, was bred to exhibit clonic convulsions (moderate seizures with an ARS of 3) following a single wild running phase in response to sound.
has_obo_namespace: rat_strain_ontology
has_related_synonym: RGD ID: 13450922
id: RS:0004561
from pub med: true

Axiom
annotated source: SD-GEPR-3
annotated property: hasDefinition
annotated target: Genetically Epilepsy-Prone Rats (GEPR-3) have moderate levels of seizure predisposition. This colony,initially referred to as an AGS (audiogenic response score) colony, was bred to exhibit clonic convulsions (moderate seizures with an ARS of 3) following a single wild running phase in response to sound.

W/Lnne
type: Class
subclass of: inbred strain
imported from: rs.owl
created_by: sjwang
creation_date: 2019-07-12T14:00:53Z
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28506440
has definition: The Wistar audiogenic rat (WAR) is an animal model of tonic-clonic epileptic seizures, developed after genetic selection by sister × brother inbreeding of Wistar rats susceptible to sound stimuli.
alternative_term: RGD ID: 14695083
alternative_term: Wistar audiogenic rat
has_obo_namespace: rat_strain_ontology
id: RS:0004742
from pub med: true

Axiom
annotated source: W/Lnne
annotated property: hasDefinition
annotated target: The Wistar audiogenic rat (WAR) is an animal model of tonic-clonic epileptic seizures, developed after genetic selection by sister × brother inbreeding of Wistar rats susceptible to sound stimuli.

ataxia
type: Class
subclass of: neurological and physiological symptom
definition: Ataxia is a neurological and physiological symptom characterized by an inability to coordinate voluntary muscular movements that is symptomatic of some nervous disorders.
imported from: symp.owl
alternative_term: uncoordination
has_obo_namespace: symptoms
id: SYMP:0000005
from ESSO: true

confusion
type: Class
subclass of: neurological and physiological symptom
definition: Confusion is a neurological and physiological symptom characterized by a disturbance of consciousness characterized by inability to engage in orderly thought or by lack of power to distinguish, choose, or act decisively.
imported from: symp.owl
has_obo_namespace: symptoms
id: SYMP:0000016
from ESSO: true

dehydration
type: Class
subclass of: nutrition, metabolism, and development symptom
definition: Dehydration is a nutrition, metabolism, and development symptom characterized by an abnormal depletion of body fluids.
imported from: symp.owl
has_obo_namespace: symptoms
id: SYMP:0000020
from article: true

depression
type: Class
subclass of: psychotic disorder
imported from: symp.owl
has definition: Depression (major depressive disorder) is a common and serious medical illness that negatively affects how you feel, the way you think and how you act. Fortunately, it is also treatable. Depression causes feelings of sadness and/or a loss of interest in activities once enjoyed. It can lead to a variety of emotional and physical problems and can decrease a person’s ability to function at work and at home.
has_obo_namespace: symptoms
id: SYMP:0000022
from article: true

Axiom
annotated source: depression
annotated property: hasDefinition
annotated target: Depression (major depressive disorder) is a common and serious medical illness that negatively affects how you feel, the way you think and how you act. Fortunately, it is also treatable. Depression causes feelings of sadness and/or a loss of interest in activities once enjoyed. It can lead to a variety of emotional and physical problems and can decrease a person’s ability to function at work and at home.

hydrocephalus
type: Class
subclass of: head symptom
imported from: symp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/11219629
has_obo_namespace: symptoms
id: SYMP:0000051
comment: doid/symp duplicate
from pub med: true

inflammation
type: Class
subclass of: general symptom
definition: Inflammation is a general symptom where there is a local response to cellular injury that is marked by capillary dilatation, leukocytic infiltration, redness, heat, pain, swelling, and often loss of function and that serves as a mechanism initiating the elimination of noxious agents and of damaged tissue.
imported from: symp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3378051/
has_obo_namespace: symptoms
id: SYMP:0000061
from pub med: true

lethargy
type: Class
subclass of: fatigue
definition: Lethargy is a fatigue characterized as abnormal drowsiness.
imported from: symp.owl
has_obo_namespace: symptoms
id: SYMP:0000075
from article: true
from ESSO: true

meningoencephalitis
type: Class
subclass of: infectious etiology
definition: Meningoencephalitis is a nervous system symptom characterized as an inflammation of the brain and meninges.
imported from: symp.owl
has definition: The commonest etiologies for bacterial meningitis are meningococus, pneumococcus and haemophilus influenza B. Acute seizures may occur related to fever or to complications such as subdural collections, cerebritis or cerebral infarction. Immunization programs may reduce the incidence of specific bacterial meningitides.
alternative_term: bacterial meningitis or meningoencephalitis
has_obo_namespace: symptoms
id: SYMP:0000089
comment: doid/symp duplicate
from ILAE: true

Axiom
annotated source: meningoencephalitis
annotated property: hasDefinition
annotated target: The commonest etiologies for bacterial meningitis are meningococus, pneumococcus and haemophilus influenza B. Acute seizures may occur related to fever or to complications such as subdural collections, cerebritis or cerebral infarction. Immunization programs may reduce the incidence of specific bacterial meningitides.

skin lesion
type: Class
subclass of: skin and integumentary tissue symptom
definition: Skin lesion is a skin and integumentary tissue symptom characterized as an abnormal change in structure of the skin that is especially circumscribed and well defined due to injury or disease.
imported from: symp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/25535236
has_obo_namespace: symptoms
id: SYMP:0000092
from pub med: true

pain
type: Class
subclass of: sensation perception
definition: A sensation perception where there is an unpleasant sensation that usually indicates the body is threatened or damaged. The sensation may be sharp or dull, short-lived or chronic, intermittent or continual, confined to one area or spread over the entire body.
imported from: symp.owl
has_obo_namespace: symptoms
id: SYMP:0000099
from ESSO: true

seizure
type: Class
subclass of: nervous system symptom
subclass of: Restriction
  on property: isSeizureClassificationFor
  some values from: epilepsy
imported from: symp.owl
alternative_term: Seizures
alternative_term: seizure
has_obo_namespace: symptoms
id: SYMP:0000124

thirst
type: Class
subclass of: general symptom
definition: Thirst is a general symptom characterized by a sensation of dryness in the mouth and throat associated with a desire for liquids.
imported from: symp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/
has_obo_namespace: symptoms
id: SYMP:0000156
from pub med: true

muscle symptom
type: Class
subclass of: musculoskeletal system symptom
imported from: symp.owl
has_obo_namespace: symptoms
id: SYMP:0000183

abdominal discomfort
type: Class
subclass of: abdominal symptom
imported from: symp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28139515
has definition: Discomfort feeling in abdomen
has_obo_namespace: symptoms
id: SYMP:0000188

Axiom
annotated source: abdominal discomfort
annotated property: hasDefinition
annotated target: Discomfort feeling in abdomen

atrial fibrillation
type: Class
subclass of: cardiac fibrillation
definition: A cardiac fibrillation consisting of a very rapid uncoordinated contractions of the atria of the heart resulting in a lack of synchronism between heartbeat and pulse beat.
imported from: symp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/22637287
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/22698381
alternative_term: AF
alternative_term: a-fib
alternative_term: auricular fibrillation
has_obo_namespace: symptoms
id: SYMP:0000226
comment: doid/symp duplicate
from pub med: true

bradycardia
type: Class
subclass of: arrhythmia
definition: Bradycardia is a cardiovascular system symptom consisting of a relatively slow heart action whether physiological or pathological.
imported from: symp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4468352/
has_obo_namespace: symptoms
id: SYMP:0000231
from ESSO: true
from pub med: true

dilated pupil
type: Class
subclass of: pupil symptom
imported from: symp.owl
has_obo_namespace: symptoms
id: SYMP:0000254

arrhythmia
type: Class
subclass of: cardiovascular system symptom
definition: Arrhythmia is a cardiovascular system symptom consisting of an alteration in rhythm of the heartbeat either in time or force.
imported from: symp.owl
has_alternative_id: SYMP:0000288
has_alternative_id: SYMP:0000667
has_alternative_id: SYMP:0000668
alternative_term: abnormal heart beat
alternative_term: abnormal heart rhythm
alternative_term: dysrhythmia
alternative_term: heart rhythm symptom
has_obo_namespace: symptoms
has_related_synonym: fluctuation of heart rate
id: SYMP:0000287

belching
type: Class
subclass of: digestive system symptom
definition: Belching is a digestive system symptom involving the sudden expulsion of gas from the stomach through the mouth.
imported from: symp.owl
alternative_term: eructation
has_obo_namespace: symptoms
id: SYMP:0000290
from ESSO: true

ptosis
type: Class
subclass of: general symptom
definition: Ptosis is a general symptom characterized by a sagging or prolapse of an organ or part.
imported from: symp.owl
alternative_term: droopiness
has_obo_namespace: symptoms
id: SYMP:0000369
comment: doid/symp duplicate
from article: true
from ESSO: true

head symptom
type: Class
subclass of: head and neck symptom
imported from: symp.owl
has_obo_namespace: symptoms
id: SYMP:0000387

mydriasis
type: Class
subclass of: dilated pupil
imported from: symp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/18539570
alternative_term: excessive pupil dilation
alternative_term: prolonged pupil dilation
has_obo_namespace: symptoms
id: SYMP:0000396
from ESSO: true
from pub med: true

vertigo
type: Class
subclass of: dizziness
definition: Vertigo is a dizziness characterized by a specific type of dizziness, a major symptom of a balance disorder. It is the sensation of spinning or swaying while the body is stationary with respect to the surroundings.
imported from: symp.owl
has_obo_namespace: symptoms
id: SYMP:0000399
from ESSO: true

bruise
type: Class
subclass of: skin and integumentary tissue symptom
definition: Bruise is a skin and integumentary tissue symptom characterized as an injury transmitted through unbroken skin to underlying tissue causing rupture of small blood vessels and escape of blood into the tissue with resulting discoloration.
imported from: symp.owl
alternative_term: bruises
alternative_term: bruising
alternative_term: contusion
alternative_term: ecchymosis
has_obo_namespace: symptoms
id: SYMP:0000406
from article: true

cataplexy
type: Class
subclass of: muscle symptom
definition: Cataplexy is a muscle symptom characterized by a sudden loss of muscle control with retention of clear consciousness that follows a strong emotional stimulus (as elation, surprise, or anger) and is a characteristic symptom of narcolepsy.
imported from: symp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4623123/
has_obo_namespace: symptoms
id: SYMP:0000408
from pub med: true

neurological and physiological symptom
type: Class
subclass of: symptom
imported from: symp.owl
has_obo_namespace: symptoms
id: SYMP:0000410

anxiety
type: Class
subclass of: neurological and physiological symptom
definition: Anxiety is a neurological and physiological symptom characterized by a painful or apprehensive uneasiness of mind usually over an impending or anticipated ill.
imported from: symp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30698542
has_obo_namespace: symptoms
id: SYMP:0000412
from pub med: true

dysarthria
type: Class
subclass of: neurological and physiological symptom
definition: Dysarthria is a neurological and physiological symptom characterized by a difficulty in articulating words due to disease of the central nervous system.
imported from: symp.owl
has_obo_namespace: symptoms
id: SYMP:0000414
from ESSO: true

pupil symptom
type: Class
subclass of: eye symptom
imported from: symp.owl
has_obo_namespace: symptoms
id: SYMP:0000417

claudication
type: Class
subclass of: pain
definition: A pain that is a leg pain in the calf or thigh which is caused by inadequate blood flow to the leg muscles brought on by leg exercise such as walking.
imported from: symp.owl
alternative_term: blockage of leg arteries
has_obo_namespace: symptoms
id: SYMP:0000424
from article: true

hypoventilation
type: Class
subclass of: respiratory abnormality
definition: Hypoventilation is a respiratory abnormality characterized by a deficient ventilation of the lungs that results in reduction in the oxygen content or increase in the carbon dioxide content of the blood or both.
imported from: symp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/22791548
has_obo_namespace: symptoms
id: SYMP:0000428
from pub med: true

paresthesia
type: Class
subclass of: skin and integumentary tissue symptom
definition: Paresthesia is a skin and integumentary tissue symptom characterized as a sensation of pricking, tingling, or creeping on the skin having no objective cause and usually associated with injury or irritation of a sensory nerve or nerve root.
imported from: symp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK2511/
alternative_term: Tingling
has_obo_namespace: symptoms
id: SYMP:0000435
from ESSO: true
from pub med: true

cardiogenic shock
type: Class
subclass of: shock
imported from: symp.owl
database_cross_reference: ICD9CM_2005:785.51
database_cross_reference: SyOID:10218
database_cross_reference: UMLS_CUI:C0036980
database_cross_reference: UMLS_ICD9CM_2005_AUI:A0243814
has definition: Cardiogenic shock (CS) is a condition in which a marked reduction in cardiac output and inadequate end-organ perfusion results from an array of cardiac insults, the most common of which is acute myocardial infarction. CS is a systemic disease involving a vicious cycle of inflammation, ischemia, and progressive myocardial dysfunction, which often results in death.
has_obo_namespace: symptoms
id: SYMP:0000449
from article: true

Axiom
annotated source: cardiogenic shock
annotated property: hasDefinition
annotated target: Cardiogenic shock (CS) is a condition in which a marked reduction in cardiac output and inadequate end-organ perfusion results from an array of cardiac insults, the most common of which is acute myocardial infarction. CS is a systemic disease involving a vicious cycle of inflammation, ischemia, and progressive myocardial dysfunction, which often results in death.

shock
type: Class
subclass of: cardiovascular system symptom
definition: A cardiovascular system symptom that is characterized as a state of profound depression of the vital processes of the body that is characterized by pallor, rapid but weak pulse, rapid and shallow respiration, reduced total blood volume, and low blood pressure and that is caused usually by severe especially crushing injuries, hemorrhage, burns, or major surgery.
imported from: symp.owl
database_cross_reference: ICD9CM_2005:785.5
database_cross_reference: UMLS_CUI:C0159051
database_cross_reference: UMLS_ICD9CM_2005_AUI:A0284197
has_obo_namespace: symptoms
id: SYMP:0000450

nausea
type: Class
subclass of: digestive system symptom
definition: Nausea is a digestive system symptom characterized by an uneasy or unsettled feeling in the stomach together with an urge to vomit.
imported from: symp.owl
database_cross_reference: ICD9CM_2005:787.02
database_cross_reference: SyOID:1173
database_cross_reference: UMLS_CUI:C0375548
database_cross_reference: UMLS_ICD9CM_2005_AUI:A0750850
has_obo_namespace: symptoms
id: SYMP:0000458
from article: true
from ESSO: true

digestive system symptom
type: Class
subclass of: symptom
imported from: symp.owl
database_cross_reference: ICD9CM_2005:787
database_cross_reference: SyOID:5330
database_cross_reference: UMLS_CUI:C0159058
database_cross_reference: UMLS_ICD9CM_2005_AUI:A0284224
has_obo_namespace: symptoms
id: SYMP:0000459

abdominal symptom
type: Class
subclass of: symptom
imported from: symp.owl
database_cross_reference: ICD9CM_2005:789
database_cross_reference: ICD9CM_2005:789.9
database_cross_reference: SyOID:12097
database_cross_reference: UMLS_CUI:C0159065
database_cross_reference: UMLS_ICD9CM_2005_AUI:A0284267
database_cross_reference: UMLS_ICD9CM_2005_AUI:A0284268
has_obo_namespace: symptoms
id: SYMP:0000461

symptom
type: Class
subclass of: realizable entity
subclass of: Restriction
  on property: isSignAndSymptomFor
  some values from: epilepsy
definition: A symptom is a perceived change in function, sensation, loss, disturbance or appearance reported by a patient indicative of a disease.
imported from: symp.owl
database_cross_reference: SyOID:14974
has_obo_namespace: symptoms
id: SYMP:0000462
from ESSO: true

nutrition, metabolism, and development symptom
type: Class
subclass of: symptom
imported from: symp.owl
database_cross_reference: ICD9CM_2005:783
database_cross_reference: SyOID:2644
database_cross_reference: UMLS_CUI:C0159041
database_cross_reference: UMLS_ICD9CM_2005_AUI:A0284163
has_obo_namespace: symptoms
id: SYMP:0000473

nervous system symptom
type: Class
subclass of: symptom
imported from: symp.owl
database_cross_reference: ICD9CM_2005:781
database_cross_reference: SyOID:90
database_cross_reference: UMLS_CUI:C0159033
database_cross_reference: UMLS_ICD9CM_2005_AUI:A0284131
has_obo_namespace: symptoms
id: SYMP:0000480

urinary system symptom
type: Class
subclass of: symptom
imported from: symp.owl
database_cross_reference: ICD9CM_2005:788
database_cross_reference: SyOID:2134
database_cross_reference: UMLS_CUI:C0476293
database_cross_reference: UMLS_ICD9CM_2005_AUI:A0284245
has_obo_namespace: symptoms
id: SYMP:0000486

skin and integumentary tissue symptom
type: Class
subclass of: symptom
imported from: symp.owl
database_cross_reference: ICD9CM_2005:782
database_cross_reference: ICD9CM_2005:782.9
database_cross_reference: SyOID:2103
database_cross_reference: UMLS_CUI:C0159037
database_cross_reference: UMLS_ICD9CM_2005_AUI:A0284146
database_cross_reference: UMLS_ICD9CM_2005_AUI:A0284161
has_obo_namespace: symptoms
id: SYMP:0000488

urinary incontinence
type: Class
subclass of: urinary system symptom
definition: Urinary incontinence is a urinary system symptom characterized by the an inability of the body to control the evacuative functions.
imported from: symp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5885137/
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/23142708
database_cross_reference: ICD9CM_2005:788.3
database_cross_reference: ICD9CM_2005:788.30
database_cross_reference: SyOID:5372
database_cross_reference: UMLS_CUI:C0042024
database_cross_reference: UMLS_ICD9CM_2005_AUI:A0814766
database_cross_reference: UMLS_ICD9CM_2005_AUI:A6994675
alternative_term: incontinence
has_obo_namespace: symptoms
id: SYMP:0000492
from pub med: true

aphasia
type: Class
subclass of: nervous system symptom
definition: Aphasia is a nervous system symptom characterized by a loss or impairment of the power to use or comprehend words usually resulting from brain damage.
imported from: symp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5639272/
database_cross_reference: ICD9CM_2005:784.3
database_cross_reference: SyOID:14727
database_cross_reference: UMLS_CUI:C0003537
database_cross_reference: UMLS_ICD9CM_2005_AUI:A0025556
alternative_term: inability to comprehend language
has_obo_namespace: symptoms
id: SYMP:0000508
comment: doid/symp duplicate
from ESSO: true
from pub med: true

pallor
type: Class
subclass of: skin and integumentary tissue symptom
definition: Pallor is a skin and integumentary tissue symptom characterized as a deficiency of color especially of the face.
imported from: symp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC531654/
database_cross_reference: ICD9CM_2005:782.61
database_cross_reference: SyOID:14889
database_cross_reference: UMLS_CUI:C0030232
database_cross_reference: UMLS_ICD9CM_2005_AUI:A0096956
alternative_term: paleness
has_obo_namespace: symptoms
id: SYMP:0000510
from ESSO: true
from pub med: true

flushing
type: Class
subclass of: skin and integumentary tissue symptom
definition: Flushing is a skin and integumentary tissue symptom characterized as a markedly red flush in a persons face and often other areas of the skin, from various physiological conditions. Flushing is generally distinguished, despite a close physiological relation between them, from blushing, which is milder, generally restricted to the face or cheeks, and generally assumed to reflect embarrassment. Flushing is also a cardinal symptom of carcinoid syndrome the syndrome that results from hormones (often serotonin or histamine) being secreted into systemic circulation.
imported from: symp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC531654/
database_cross_reference: ICD9CM_2005:782.62
database_cross_reference: SyOID:14890
database_cross_reference: UMLS_CUI:C0016382
database_cross_reference: UMLS_ICD9CM_2005_AUI:A0060138
has_obo_namespace: symptoms
id: SYMP:0000511
from ESSO: true
from pub med: true

stridor
type: Class
subclass of: respiratory system and chest symptom
definition: Stridor is a respiratory system and chest symptom characterized by a harsh vibrating sound heard during respiration in cases of obstruction of the air passages.
imported from: symp.owl
database_cross_reference: ICD9CM_2005:786.1
database_cross_reference: SyOID:15070
database_cross_reference: UMLS_CUI:C0038450
database_cross_reference: UMLS_ICD9CM_2005_AUI:A0120146
has_obo_namespace: symptoms
id: SYMP:0000513
from ESSO: true

respiratory system and chest symptom
type: Class
subclass of: symptom
imported from: symp.owl
database_cross_reference: ICD9CM_2005:786
database_cross_reference: SyOID:5868
database_cross_reference: UMLS_CUI:C0476271
database_cross_reference: UMLS_ICD9CM_2005_AUI:A0284200
has_obo_namespace: symptoms
id: SYMP:0000514

hiccough
type: Class
subclass of: respiratory system and chest symptom
definition: Hiccough is a respiratory system and chest symptom characterized by a spasmodic inhalation with closure of the glottis accompanied by a peculiar sound.
imported from: symp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28139515
database_cross_reference: ICD9CM_2005:786.8
database_cross_reference: SyOID:15071
database_cross_reference: UMLS_CUI:C0019521
database_cross_reference: UMLS_ICD9CM_2005_AUI:A0421293
has_obo_namespace: symptoms
id: SYMP:0000515
from pub med: true

cardiovascular system symptom
type: Class
subclass of: symptom
imported from: symp.owl
database_cross_reference: ICD9CM_2005:785
database_cross_reference: SyOID:2147
database_cross_reference: UMLS_CUI:C0159049
database_cross_reference: UMLS_ICD9CM_2005_AUI:A0284192
has_obo_namespace: symptoms
id: SYMP:0000528

tachycardia
type: Class
subclass of: arrhythmia
definition: Tachycardia is a cardiovascular system symptom consisting of a relatively rapid heart action whether physiological (as after exercise) or pathological.
imported from: symp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC531654/
database_cross_reference: ICD9CM_2005:785.0
database_cross_reference: SyOID:16496
database_cross_reference: UMLS_CUI:C0039231
database_cross_reference: UMLS_ICD9CM_2005_AUI:A0804597
has_obo_namespace: symptoms
id: SYMP:0000529
from ESSO: true
from pub med: true

palpitation
type: Class
subclass of: cardiovascular system symptom
definition: Palpitation is a cardiovascykar system symptom characterized by an abnormal awareness of the beating of the heart,whether it is too slow, too fast, irregular, or at its normal frequency when excited by violent exertion, strong emotion, or disease.
imported from: symp.owl
database_cross_reference: ICD9CM_2005:785.1
database_cross_reference: SyOID:16497
database_cross_reference: UMLS_CUI:C0030252
database_cross_reference: UMLS_ICD9CM_2005_AUI:A0004066
alternative_term: Palpitations
alternative_term: abnormal heart beats
has_obo_namespace: symptoms
id: SYMP:0000530
from ESSO: true

cyanosis
type: Class
subclass of: skin and integumentary tissue symptom
definition: Cyanosis is a skin and integumentary tissue symptom characterized as a bluish or purplish discoloration (as of skin) due to deficient oxygenation of the blood.
imported from: symp.owl
database_cross_reference: ICD9CM_2005:782.5
database_cross_reference: SyOID:17346
database_cross_reference: UMLS_CUI:C0010520
database_cross_reference: UMLS_ICD9CM_2005_AUI:A0044296
has_obo_namespace: symptoms
id: SYMP:0000537
from article: true
from ESSO: true

nocturia
type: Class
subclass of: urinary system symptom
definition: Nocturia is a urinary system symptom characterized by urination at night especially when excessive.
imported from: symp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3481949/
database_cross_reference: ICD9CM_2005:788.43
database_cross_reference: SyOID:3049
database_cross_reference: UMLS_CUI:C0028734
database_cross_reference: UMLS_ICD9CM_2005_AUI:A0011475
alternative_term: nycturia
has_obo_namespace: symptoms
id: SYMP:0000564
from pub med: true

sleep disturbance
type: Class
subclass of: general symptom
imported from: symp.owl
database_cross_reference: ICD9CM_2005:780.5
database_cross_reference: SyOID:3247
database_cross_reference: UMLS_CUI:C0037317
database_cross_reference: UMLS_ICD9CM_2005_AUI:A0246756
has_obo_namespace: symptoms
id: SYMP:0000566

general symptom
type: Class
subclass of: symptom
imported from: symp.owl
database_cross_reference: ICD9CM_2005:780
database_cross_reference: SyOID:777
database_cross_reference: UMLS_CUI:C0159028
database_cross_reference: UMLS_ICD9CM_2005_AUI:A0284119
has_obo_namespace: symptoms
id: SYMP:0000567

insomnia
type: Class
subclass of: sleep disturbance
definition: Insomnia is a sleep disturbance characterized by prolonged and usually abnormal inability to obtain adequate sleep.
imported from: symp.owl
database_cross_reference: ICD9CM_2005:780.52
database_cross_reference: SyOID:3766
database_cross_reference: UMLS_CUI:C0029645
database_cross_reference: UMLS_ICD9CM_2005_AUI:A0243733
alternative_term: agrypnia
has_obo_namespace: symptoms
id: SYMP:0000571
from article: true

hypersomnia
type: Class
subclass of: sleep disturbance
definition: Hypersomnia is a sleep disturbance characterized by sleeping for excessive periods at intervals with intervening periods of normal duration of sleeping and waking.
imported from: symp.owl
database_cross_reference: ICD9CM_2005:780.54
database_cross_reference: SyOID:5380
database_cross_reference: UMLS_CUI:C0029637
database_cross_reference: UMLS_ICD9CM_2005_AUI:A0243739
has_obo_namespace: symptoms
id: SYMP:0000582
from article: true

sleep related movement disorder
type: Class
subclass of: sleep disorder
imported from: symp.owl
database_cross_reference: ICD9CM_2005:780.58
database_cross_reference: SyOID:5383
database_cross_reference: UMLS_CUI:C1455873
database_cross_reference: UMLS_ICD9CM_2005_AUI:A6995224
has definition: Sleep related rhythmic movement disorders include body rocking, rolling and head banging. These are usually benign exaggerations of presumed self-comforting movements or habits that many infants demonstrate in sleep wake transition as they fall asleep.
alternative_term: Sleep related rhythmic movement disorders
has_obo_namespace: symptoms
id: SYMP:0000585
from ILAE: true

Axiom
annotated source: sleep related movement disorder
annotated property: hasDefinition
annotated target: Sleep related rhythmic movement disorders include body rocking, rolling and head banging. These are usually benign exaggerations of presumed self-comforting movements or habits that many infants demonstrate in sleep wake transition as they fall asleep.

head and neck symptom
type: Class
subclass of: symptom
imported from: symp.owl
database_cross_reference: ICD9CM_2005:784
database_cross_reference: SyOID:7123
database_cross_reference: UMLS_CUI:C0476247
database_cross_reference: UMLS_ICD9CM_2005_AUI:A0284173
has_obo_namespace: symptoms
id: SYMP:0000597

respiratory abnormality
type: Class
subclass of: respiratory system and chest symptom
imported from: symp.owl
database_cross_reference: ICD9CM_2005:786.0
database_cross_reference: SyOID:7239
database_cross_reference: UMLS_CUI:C0159053
database_cross_reference: UMLS_ICD9CM_2005_AUI:A0284202
has_obo_namespace: symptoms
id: SYMP:0000598

apnea
type: Class
subclass of: respiratory abnormality
definition: Apnea is a respiratory abnormality characterized by transient cessation of respiration whether normal (as in hibernating animals) or abnormal (as that caused by certain drugs).
imported from: symp.owl
database_cross_reference: ICD9CM_2005:786.03
database_cross_reference: SyOID:7243
database_cross_reference: UMLS_CUI:C0003578
database_cross_reference: UMLS_ICD9CM_2005_AUI:A0025648
has_obo_namespace: symptoms
id: SYMP:0000600
from ESSO: true

dizziness
type: Class
subclass of: neurological and physiological symptom
definition: Dizziness is a neurological and physiological symptom characterized by a sensation of unsteadiness accompanied by a feeling of movement within the head.
imported from: symp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK2609/
database_cross_reference: ICD9CM_2005:780.4
database_cross_reference: SyOID:7637
database_cross_reference: UMLS_CUI:C0476206
database_cross_reference: UMLS_ICD9CM_2005_AUI:A0243727
alternative_term: dizzy
has_obo_namespace: symptoms
id: SYMP:0000610
from article: true
from NCBI book: true

memory impairment
type: Class
subclass of: neurological and physiological symptom
imported from: symp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/27638925
alternative_term: Memory deficits
has_obo_namespace: symptoms
id: SYMP:0000719
from pub med: true

stroke
type: Class
subclass of: hypoxic-ischemic
definition: Stroke is a nervous system symptom characterized by a sudden diminution or loss of consciousness, sensation, and voluntary motion caused by rupture or obstruction (as by a clot) of a blood vessel of the brain.
imported from: symp.owl
has definition: Stroke includes two main types, hemorrhagic and ischemic. Both types of stroke can cause acute seizures at the time of the acute event, as well as epilepsy as a long-term complication. In the elderly, cerebrovascular disease and stroke are the most common cause of acute seizures and epilepsy.
alternative_term: apoplexy
alternative_term: brain attack
alternative_term: cerebral accident
alternative_term: cerebrovascular accident
has_obo_namespace: symptoms
id: SYMP:0000734
from ILAE: true

Axiom
annotated source: stroke
annotated property: hasDefinition
annotated target: Stroke includes two main types, hemorrhagic and ischemic. Both types of stroke can cause acute seizures at the time of the acute event, as well as epilepsy as a long-term complication. In the elderly, cerebrovascular disease and stroke are the most common cause of acute seizures and epilepsy.

hypoesthesia
type: Class
subclass of: sensation perception
definition: Hypoesthesia is a general symptom where there is a diminished sensitivity to stimulation.
imported from: symp.owl
alternative_term: numbness
has_obo_namespace: symptoms
id: SYMP:0000834
from ESSO: true

chronic pain
type: Class
subclass of: pain
definition: Chronic pain is a pain that can range from mild to severe, and continues beyond the expected healing phase.
imported from: symp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/20161538
has_obo_namespace: symptoms
id: SYMP:0000837
from pub med: true

hematoma
type: Class
subclass of: skin and integumentary tissue symptom
definition: Hematoma is a skin and integumentary tissue symptom characterized by a mass of usually clotted blood that forms in a tissue, organ, or body space as a result of a broken blood vessel generally the result of hemorrhage, or more specifically, internal bleeding.
imported from: symp.owl
has_obo_namespace: symptoms
id: SYMP:0000874

musculoskeletal system symptom
type: Class
subclass of: symptom
imported from: symp.owl
created_by: lschriml
creation_date: 2010-10-15T11:48:05Z
has_obo_namespace: symptoms
id: SYMP:0000891

sensation perception
type: Class
subclass of: nervous system symptom
definition: Sensation perception is a nervous system symptom where the information perceived by sensory receptors are interpreted.
imported from: symp.owl
created_by: lschriml
creation_date: 2010-10-15T11:54:30Z
has_obo_namespace: symptoms
id: SYMP:0000892

cardiac fibrillation
type: Class
subclass of: arrhythmia
definition: An arrhythmia characterized by rapid, irregular, and unsynchronized contraction of muscle fibers within the heart.
imported from: symp.owl
has_obo_namespace: symptoms
id: SYMP:0000898

diaphoresis
type: Class
subclass of: sweaty
definition: Diaphoresis is a sweat characterized as excessive sweating commonly associated with shock and other medical emergency conditions.
imported from: symp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29763181
alternative_term: profuse perspiration
has_obo_namespace: symptoms
id: SYMP:0019152
from article: true
from pub med: true

eye symptom
type: Class
subclass of: head symptom
imported from: symp.owl
has_obo_namespace: symptoms
id: SYMP:0019163

meningitis
type: Class
subclass of: nervous system symptom
definition: Meningitis is a nervous system symptom characterized as an inflammation of the meninges and especially of the pia mater and the arachnoid.
imported from: symp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/18754955
has_obo_namespace: symptoms
id: SYMP:0019173
from pub med: true

sweaty
type: Class
subclass of: skin and integumentary tissue symptom
definition: A skin and integumentary tissue symptom characterized as the excretion of moisture in visible quantities through the opening of the sweat glands.
imported from: symp.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/15562299
alternative_term: Sweating
alternative_term: perspire
has_obo_namespace: symptoms
id: SYMP:0019175
from pub med: true

malaise
type: Class
subclass of: neurological and physiological symptom
definition: Malaise is a neurological and physiological symptom characterized as an indefinite feeling of debility or lack of health often indicative of or accompanying the onset of an illness.
imported from: symp.owl
has_obo_namespace: symptoms
id: SYMP:0019176
from article: true
from ESSO: true

fatigue
type: Class
subclass of: neurological and physiological symptom
definition: Fatigue is a neurological and physiological symptom characterized by a weariness or exhaustion from labor, exertion, or stress.
imported from: symp.owl
has_obo_namespace: symptoms
id: SYMP:0019177
from ESSO: true

behavioral symptom
type: Class
subclass of: nervous system symptom
definition: A nervous system symptom that involves, is related to, or emphasizes behavior.
imported from: symp.owl

limited attention
type: Class
subclass of: behavioral symptom
definition: A behavioral symptom that is characterized by a restricted rate of information processing by the brain.
imported from: symp.owl
alternative_term: Decreased attention
alternative_term: Impaired Attention
from article: true

fornix of brain
type: Class
subclass of: tract of brain
definition: A C-shaped bundle of fibres (axons) in the brain, and carries signals from the hippocampus to the mammillary bodies and septal nuclei. It is typically divided into the columns (crus), body, commissure and the pre-commissural and post-commissural fornix (MM).
imported from: uberon.owl
has_broad_synonym: fornix
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/23613463
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: fornix of brain
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0152334
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0458370
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/279302004
database_cross_reference: BAMS:f
database_cross_reference: BIRNLEX:705
database_cross_reference: DHBA:10576
database_cross_reference: DMBA:17767
database_cross_reference: EMAPA:35352
database_cross_reference: FMA:61965
database_cross_reference: FMA:83865
database_cross_reference: HBA:9249
database_cross_reference: MA:0002747
database_cross_reference: NCIT:C32289
database_cross_reference: UMLS:C0152334
database_cross_reference: UMLS:C0458370
alternative_term: brain fornix
alternative_term: cerebral fornix
alternative_term: forebrain fornix
alternative_term: fornix of neuraxis
alternative_term: neuraxis fornix
has_obo_namespace: uberon
has_related_synonym: fornix (column and body of fornix)
has_related_synonym: fornix cerebri
has_related_synonym: fornix hippocampus
has_related_synonym: hippocampus fornix
id: UBERON:0000052
in subset: pheno slim
in subset: uberon slim
from ESSO: true
from pub med: true

vessel
type: Class
subclass of: anatomical conduit
definition: A tubular structure that contains, conveys body fluid, such as blood or lymph.
imported from: uberon.owl
has_obo_namespace: uberon
id: UBERON:0000055
in subset: grouping class
in subset: pheno slim

anatomical structure
type: Class
subclass of: material anatomical entity
definition: Material anatomical entity that is a single connected structure with inherent 3D shape generated by coordinated expression of the organism's own genome.
imported from: uberon.owl
database_cross_reference: AnatomicalStructure
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/362889002
database_cross_reference: AAO:0010825
database_cross_reference: AEO:0000003
database_cross_reference: BILA:0000003
database_cross_reference: CARO:0000003
database_cross_reference: EHDAA2:0003003
database_cross_reference: EMAPA:0
database_cross_reference: FBbt:00007001
database_cross_reference: FMA:305751
database_cross_reference: FMA:67135
database_cross_reference: GAID:781
database_cross_reference: HAO:0000003
database_cross_reference: MA:0003000
database_cross_reference: MESH:D000825
database_cross_reference: TAO:0000037
database_cross_reference: TGMA:0001823
database_cross_reference: VHOG:0001759
database_cross_reference: XAO:0003000
database_cross_reference: ZFA:0000037
alternative_term: biological structure
alternative_term: connected biological structure
has_obo_namespace: uberon
id: UBERON:0000061
in subset: upper level

organ
type: Class
subclass of: multicellular anatomical structure
definition: Anatomical structure that performs a specific function or group of functions [WP].
imported from: uberon.owl
external_definition: Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions.
external_ontology_notes: CARO v1 does not include a generic 'organ' class, only simple and compound organ. CARO v2 may include organ, see https://github.com/obophenotype/caro/issues/4
database_cross_reference: Organ (anatomy)
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0178784
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/272625005
database_cross_reference: BIRNLEX:4
database_cross_reference: CARO:0020004
database_cross_reference: EFO:0000634
database_cross_reference: EMAPA:35949
database_cross_reference: ENVO:01000162
database_cross_reference: FMA:67498
database_cross_reference: MA:0003001
database_cross_reference: NCIT:C13018
database_cross_reference: OpenCyc:Mx4rv5XMb5wpEbGdrcN5Y29ycA
database_cross_reference: OpenCyc:Mx4rwP3iWpwpEbGdrcN5Y29ycA
database_cross_reference: UMLS:C0178784
database_cross_reference: WBbt:0003760
has_obo_namespace: uberon
has_related_synonym: anatomical unit
has_related_synonym: body organ
has_related_synonym: element
id: UBERON:0000062
in subset: upper level

organ part
type: Class
subclass of: multicellular anatomical structure
definition: A multicellular structure that is a part of an organ.
curator note: currently defined in a very broad sense, may be replaced by more specific classes in the future
imported from: uberon.owl
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/113343008
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/91717005
database_cross_reference: AAO:0011124
database_cross_reference: BIRNLEX:16
database_cross_reference: EFO:0000635
database_cross_reference: FMA:82472
alternative_term: cardinal organ part
has_obo_namespace: uberon
has_related_synonym: regional part of organ
id: UBERON:0000064
in subset: efo slim
in subset: non informative
in subset: upper level

regional part of nervous system
type: Class
subclass of: multi-tissue structure
definition: Any part or collection of parts of the central or peripheral nervous system. Parts may span both CNS and PNS.
imported from: uberon.owl
created_by: Melissa Haendel
creation_date: 2009-06-18T09:00:04Z
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1518256
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/25087005
database_cross_reference: BIRNLEX:1157
database_cross_reference: NCIT:C13040
database_cross_reference: UMLS:C1518256
alternative_term: part of nervous system
has_obo_namespace: uberon
id: UBERON:0000073
in subset: non informative
in subset: upper level

sulcus
type: Class
subclass of: anatomical space
definition: A depression or fissure in the surface of an organ.
imported from: uberon.owl
created_by: cjm
creation_date: 2009-04-09T06:23:22Z
database_cross_reference: Sulcus (anatomy)
has_obo_namespace: uberon
id: UBERON:0000093
in subset: grouping class
in subset: non informative

cell layer
type: Class
subclass of: lamina
definition: Portion of tissue, that consists of single layer of cells connected to each other by cell junctions. Examples: layer of glial cells; epithelium.
editor note: consider adding to caro
imported from: uberon.owl
has_broad_synonym: layer
database_cross_reference: NCIT:C66831
alternative_term: layer of cells
has_obo_namespace: uberon
has_related_synonym: cell sheath
has_related_synonym: sheath of cells
id: UBERON:0000119
in subset: upper level

neuron projection bundle
type: Class
subclass of: multi cell part structure
definition: A fasciculated bundle of neuron projections (GO:0043005), largely or completely lacking synapses.
imported from: uberon.owl
has_alternative_id: UBERON:0005163
database_cross_reference: CARO:0001001
database_cross_reference: FBbt:00005099
database_cross_reference: NLX:147821
alternative_term: funiculus
alternative_term: nerve fiber bundle
alternative_term: neural fiber bundle
has_obo_namespace: uberon
id: UBERON:0000122

neural nucleus
type: Class
subclass of: central nervous system cell part cluster
definition: A spatially aggregated collection of nerve cell bodies in the CNS, consisting of one or more subpopulations that share cell type, chemical phenotype, and connections, and including nearby cells that share the same cell type, chemical phenotype, and connections. (CUMBO)
imported from: uberon.owl
external_definition: Anatomical structure consisting of a discrete aggregate of neuronal soma[GO][GO_REF:0000021].
external_ontology_notes: Proposed CUMBO def from MM: A subcortical part of the nervous system consisting of a relatively compact group of cells that is distinguishable histologically that share a commonality of cytoarchitecture, chemoarchitecturel and connectivity. (comments: I put in 'subcortical' because I don't think we consider either the cerebellar cortex or cerebral cortex to be nuclei. Some people distinguish between a nucleus and a laminar structure (see Wikipedia definition). However, there are structures identified as nuclei that are laminar, e.g., lateral geniculate nucleus, although they are not laminated in all species. Also, I put in 'relatively compact' and 'distiguishable by histology' because we have groups of cells, e.g., cholinergic cell groups, doparminergic cell groups that are related on the 3 criteria but which we don't tend to consider nuclei because they don't occupy an easily defined territory. But all is open to debate.
has_broad_synonym: nucleus
database_cross_reference: Nucleus (neuroanatomy)
database_cross_reference: AEO:0000136
database_cross_reference: FMA:83686
database_cross_reference: NCIT:C13197
database_cross_reference: NLX:28443
alternative_term: nervous system nucleus
alternative_term: neuraxis nucleus
alternative_term: neuronal nucleus
alternative_term: nucleus of CNS
has_obo_namespace: uberon
has_related_synonym: nucleus of neuraxis
id: UBERON:0000125
in subset: cumbo

gyrus
type: Class
subclass of: morphological feature
definition: A ridge on the cerebral cortex. It is generally surrounded by one or more sulci .
imported from: uberon.owl
fma_set_term: FMA_72015
contributor: RDruzinsky
contributor: cmungall
contributor: wdahdul
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Gyrus
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0458308
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/279165009
database_cross_reference: BTO:0002495
database_cross_reference: FMA:83874
database_cross_reference: NCIT:C32290
database_cross_reference: UMLS:C0458308
alternative_term: cerebral gyrus
alternative_term: gyrus of neuraxis
alternative_term: neuraxis gyrus
has_obo_namespace: uberon
has_related_synonym: folia
has_related_synonym: folium
has_related_synonym: folium of brain
has_related_synonym: gyri
has_related_synonym: gyri of cerebrum
has_related_synonym: gyrus of cerebral hemisphere
has_related_synonym: gyrus of cerebrum
id: UBERON:0000200
in subset: pheno slim

mucosa
type: Class
subclass of: organ component layer
definition: A lining of mostly endodermal origin, covered in epithelium, which is involved in absorption and secretion. They line various body cavities that are exposed to the external environment and internal organs. It is at several places continuous with skin: at the nostrils, the lips, the ears, the genital area, and the anus. The sticky, thick fluid secreted by the mucous membranes and gland is termed mucus. The term mucous membrane refers to where they are found in the body and not every mucous membrane secretes mucus[WP]
imported from: uberon.owl
has_relational_adjective: mucosal
external_ontology_notes: FMA has mucosa vs region of mucosa; these are subtypes of Mucosa: Mucosa of gallbladder, tongue, .... The following are subtypes of Region of mucosa: Mucosa of zone of stomach, trachea, bronchus, dorsum of tongue.... Depends on whether the covered area is an organ or organ component. Uberon does not regard organ vs organ component as crucial distinction and thus collapses these into a single class deliberately
database_cross_reference: Mucous membrane
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0026724
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/361693009
database_cross_reference: AEO:0000199
database_cross_reference: BTO:0000886
database_cross_reference: CALOHA:TS-2031
database_cross_reference: EHDAA2_RETIRED:0003234
database_cross_reference: EV:0100382
database_cross_reference: FMA:85355
database_cross_reference: FMA:85358
database_cross_reference: GAID:297
database_cross_reference: MESH:D009092
database_cross_reference: NCIT:C13166
database_cross_reference: OpenCyc:Mx4rvmKNOpwpEbGdrcN5Y29ycA
database_cross_reference: UMLS:C0026724
database_cross_reference: galen:Mucosa
alternative_term: mucosa of organ
alternative_term: mucosa of organ part
alternative_term: mucosal region
alternative_term: mucous membrane
alternative_term: organ mucosa
has_obo_namespace: uberon
has_related_synonym: region of mucosa
has_related_synonym: tunica mucosa
id: UBERON:0000344
in subset: pheno slim

septum of telencephalon
type: Class
subclass of: cerebral hemisphere gray matter
definition: Gray matter structure located on the midline of the forebrain consisting of the septum pellucidum (in some species) and the septal nuclei (Heimer, 1996).
imported from: uberon.owl
external_definition: Subdivision of the telencephalon on the midline between the lateral ventricles which contains the septum pellucidum and the septal nuclei[FMA][FMA:61842].
has_broad_synonym: Se
has_broad_synonym: septum
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0752060
database_cross_reference: BAMS:SA
database_cross_reference: BAMS:SEP
database_cross_reference: BAMS:Sep
database_cross_reference: BAMS:Spt
database_cross_reference: BIRNLEX:963
database_cross_reference: BM:Tel-Spt
database_cross_reference: BTO:0002705
database_cross_reference: EMAPA:32837
database_cross_reference: FMA:61842
database_cross_reference: MA:0000924
database_cross_reference: MESH:A08.186.211.577.750
database_cross_reference: UMLS:C0752060
alternative_term: area septalis
alternative_term: septal area
alternative_term: septum (NN)
alternative_term: telencephalon septum
has_obo_namespace: uberon
has_related_synonym: massa praecommissuralis
has_related_synonym: septal region
has_related_synonym: septum pellucidum (BNA,PNA)
has_related_synonym: septum telencephali
id: UBERON:0000446
in subset: pheno slim
from ESSO: true

prefrontal cortex
type: Class
subclass of: regional part of brain
definition: The anterior part of the frontal lobes of the brain, lying in front of the motor and premotor areas.nnThis brain region has been implicated in planning complex cognitive behaviors, personality expression, decision making and moderating correct social behavior. The basic activity of this brain region is considered to be orchestration of thoughts and actions in accordance with internal goals.nnThe most typical psychological term for functions carried out by the pre-frontal cortex area is executive function. Executive function relates to abilities to differentiate among conflicting thoughts, determine good and bad, better and best, same and different, future consequences of current activities, working toward a defined goal, prediction of outcomes, expectation based on actions, and social 'control' (the ability to suppress urges that, if not suppressed, could lead to socially-unacceptable outcomes).nnMany authors have indicated an integral link between a person's personality and the functions of the prefrontal cortex. - definition adapted from Wikipedia
editor note: TODO - check MA
imported from: uberon.owl
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Prefrontal cortex
database_cross_reference: BAMS:FrA
database_cross_reference: BTO:0002807
database_cross_reference: DHBA:10172
database_cross_reference: EFO:0001384
database_cross_reference: EMAPA:35356
database_cross_reference: FMA:224850
database_cross_reference: GAID:676
database_cross_reference: MA:0000906
database_cross_reference: MESH:A08.186.211.730.885.213.270.700
database_cross_reference: NLXANAT:090801
alternative_term: prefrontal association cortex
has_obo_namespace: uberon
has_related_synonym: frontal association cortex
has_related_synonym: prefrontal association complex
id: UBERON:0000451
in subset: efo slim
from ESSO: true

cerebral subcortex
type: Class
subclass of: organ part
definition: The layer located below the cerebral cortex that includes the forebrain, midbrain and hindbrain.
imported from: uberon.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/23671345
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0815008
database_cross_reference: BTO:0002858
database_cross_reference: FMA:242188
database_cross_reference: NCIT:C98712
database_cross_reference: UMLS:C0815008
alternative_term: cerebral medulla
has_obo_namespace: uberon
has_related_synonym: subcortex
id: UBERON:0000454
in subset: pheno slim
from pub med: true

anatomical space
type: Class
subclass of: immaterial anatomical entity
definition: Non-material anatomical entity of three dimensions, that is generated by morphogenetic or other physiologic processes; is surrounded by one or more anatomical structures; contains one or more organism substances or anatomical structures.
imported from: uberon.owl
has_broad_synonym: lumen
has_broad_synonym: space
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0524461
database_cross_reference: AAO:0010110
database_cross_reference: AEO:0000005
database_cross_reference: BILA:0000005
database_cross_reference: CARO:0000005
database_cross_reference: EHDAA2:0003005
database_cross_reference: FBbt:00007017
database_cross_reference: FMA:5897
database_cross_reference: HAO:0000005
database_cross_reference: NCIT:C94478
database_cross_reference: TAO:0001668
database_cross_reference: TGMA:0001825
database_cross_reference: UMLS:C0524461
database_cross_reference: VHOG:0001728
database_cross_reference: XAO:0003190
database_cross_reference: ZFA:0001643
alternative_term: lumen space
has_obo_namespace: uberon
has_related_synonym: anatomical spaces
id: UBERON:0000464
in subset: upper level

material anatomical entity
type: Class
subclass of: anatomical entity
definition: Anatomical entity that has mass.
imported from: uberon.owl
database_cross_reference: AAO:0010264
database_cross_reference: AEO:0000006
database_cross_reference: BILA:0000006
database_cross_reference: CARO:0000006
database_cross_reference: EHDAA2:0003006
database_cross_reference: FBbt:00007016
database_cross_reference: FMA:67165
database_cross_reference: HAO:0000006
database_cross_reference: TAO:0001836
database_cross_reference: TGMA:0001826
database_cross_reference: VHOG:0001721
has_obo_namespace: uberon
id: UBERON:0000465
in subset: upper level

immaterial anatomical entity
type: Class
subclass of: anatomical entity
definition: Anatomical entity that has no mass.
imported from: uberon.owl
database_cross_reference: AAO:0010265
database_cross_reference: AEO:0000007
database_cross_reference: BILA:0000007
database_cross_reference: CARO:0000007
database_cross_reference: EHDAA2:0003007
database_cross_reference: FBbt:00007015
database_cross_reference: FMA:67112
database_cross_reference: HAO:0000007
database_cross_reference: TAO:0001835
database_cross_reference: TGMA:0001827
database_cross_reference: VHOG:0001727
alternative_term: immaterial physical anatomical entity
has_obo_namespace: uberon
id: UBERON:0000466
in subset: upper level

anatomical cluster
type: Class
subclass of: anatomical entity
definition: Anatomical group that has its parts adjacent to one another.
editor note: Will be obsoleted in CARO v2 [https://github.com/obophenotype/caro/issues/3]
imported from: uberon.owl
database_cross_reference: AAO:0010009
database_cross_reference: AEO:0000041
database_cross_reference: BILA:0000041
database_cross_reference: CARO:0000041
database_cross_reference: EHDAA2:0003041
database_cross_reference: FBbt:00007277
database_cross_reference: FMA:49443
database_cross_reference: HAO:0000041
database_cross_reference: TADS:0000605
database_cross_reference: TAO:0001478
database_cross_reference: TGMA:0001842
database_cross_reference: VHOG:0001737
database_cross_reference: XAO:0003160
database_cross_reference: ZFA:0001478
has_obo_namespace: uberon
id: UBERON:0000477
in subset: upper level

tissue
type: Class
subclass of: multicellular anatomical structure
definition: Multicellular anatomical structure that consists of many cells of one or a few types, arranged in an extracellular matrix such that their long-range organisation is at least partly a repetition of their short-range organisation.
editor note: changed label and definition to reflect CARO2
imported from: uberon.owl
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0040300
database_cross_reference: AAO:0000607
database_cross_reference: AAO:0010054
database_cross_reference: AEO:0000043
database_cross_reference: BILA:0000043
database_cross_reference: BIRNLEX:19
database_cross_reference: CALOHA:TS-2090
database_cross_reference: CARO:0000043
database_cross_reference: EHDAA2:0003043
database_cross_reference: EMAPA:35868
database_cross_reference: FBbt:00007003
database_cross_reference: FMA:9637
database_cross_reference: HAO:0000043
database_cross_reference: MA:0003002
database_cross_reference: MESH:D014024
database_cross_reference: NCIT:C12801
database_cross_reference: TAO:0001477
database_cross_reference: TGMA:0001844
database_cross_reference: UMLS:C0040300
database_cross_reference: VHOG:0001757
database_cross_reference: WBbt:0005729
database_cross_reference: XAO:0003040
database_cross_reference: ZFA:0001477
database_cross_reference: galen:Tissue
alternative_term: portion of tissue
alternative_term: tissue portion
has_narrow_synonym: simple tissue
has_obo_namespace: uberon
id: UBERON:0000479
in subset: pheno slim
in subset: upper level

multi-tissue structure
type: Class
subclass of: multicellular anatomical structure
definition: Anatomical structure that has as its parts two or more portions of tissue of at least two different types and which through specific morphogenetic processes forms a single distinct structural unit demarcated by bona-fide boundaries from other distinct structural units of different types.
imported from: uberon.owl
database_cross_reference: AAO:0010048
database_cross_reference: AEO:0000055
database_cross_reference: BILA:0000055
database_cross_reference: CARO:0000055
database_cross_reference: EHDAA2:0003055
database_cross_reference: FBbt:00007010
database_cross_reference: HAO:0000055
database_cross_reference: TAO:0001488
database_cross_reference: TGMA:0001847
database_cross_reference: VHOG:0001762
database_cross_reference: XAO:0003037
database_cross_reference: ZFA:0001488
has_obo_namespace: uberon
has_related_synonym: multi-tissue structures
id: UBERON:0000481
in subset: upper level

brain
type: Class
subclass of: organ
definition: The brain is the center of the nervous system in all vertebrate, and most invertebrate, animals. Some primitive animals such as jellyfish and starfish have a decentralized nervous system without a brain, while sponges lack any nervous system at all. In vertebrates, the brain is located in the head, protected by the skull and close to the primary sensory apparatus of vision, hearing, balance, taste, and smell[WP].
editor note: requires review for applicability to invertebrate structures, e.g. synganglion
imported from: uberon.owl
external_definition: Cavitated compound organ which is comprised of gray and white matter and surrounds the cerebral ventricular system.[TAO]
external_definition: Part of the central nervous system situated within the cranium and composed of both nerve cell bodies and nerve fibers.[AAO]
external_definition: The part of the central nervous system contained within the cranium, comprising the forebrain, midbrain, hindbrain, and metencephalon. It is derived from the anterior part of the embryonic neural tube (or the encephalon). Does not include retina. (CUMBO)
homology_notes: (...) at some stage of its development, every chordate exhibits five uniquely derived characters or synapomorphies of the group: (...) (4) a single, tubular nerve cord that is located dorsal to the notochord (...) (reference 1); The neural tube is destined to differentiate into the brain and spinal cord (the central nervous system) (reference 2).[well established][VHOG]
contributor: cmungall
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/23622192
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Brain
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0006104
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1269537
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/258335003
database_cross_reference: AAO:0010478
database_cross_reference: ABA:Brain
database_cross_reference: BAMS:Br
database_cross_reference: BAMS:Brain
database_cross_reference: BILA:0000135
database_cross_reference: BIRNLEX:796
database_cross_reference: BTO:0000142
database_cross_reference: CALOHA:TS-0095
database_cross_reference: DHBA:10155
database_cross_reference: EFO:0000302
database_cross_reference: EHDAA2:0000183
database_cross_reference: EHDAA:2641
database_cross_reference: EHDAA:6485
database_cross_reference: EMAPA:16894
database_cross_reference: EV:0100164
database_cross_reference: FBbt:00005095
database_cross_reference: FMA:50801
database_cross_reference: GAID:571
database_cross_reference: HBA:4005
database_cross_reference: MA:0000168
database_cross_reference: MAT:0000098
database_cross_reference: MBA:8
database_cross_reference: MBA:997
database_cross_reference: MESH:D001921
database_cross_reference: MIAA:0000098
database_cross_reference: NCIT:C12439
database_cross_reference: OpenCyc:Mx4rvVjT65wpEbGdrcN5Y29ycA
database_cross_reference: PBA:3999
database_cross_reference: TAO:0000008
database_cross_reference: UMLS:C0006104
database_cross_reference: UMLS:C1269537
database_cross_reference: VHOG:0000157
database_cross_reference: XAO:0000010
database_cross_reference: ZFA:0000008
database_cross_reference: galen:Brain
has_obo_namespace: uberon
has_related_synonym: encephalon
has_related_synonym: suprasegmental levels of nervous system
has_related_synonym: suprasegmental structures
has_related_synonym: synganglion
has_related_synonym: the brain
id: UBERON:0000955
in subset: cumbo
in subset: efo slim
in subset: major organ
in subset: pheno slim
in subset: uberon slim
in subset: vertebrate core
from pub med: true

cerebral cortex
type: Class
subclass of: central nervous system cell part cluster
subclass of: central nervous system gray matter layer
definition: The thin layer of gray matter on the surface of the cerebral hemisphere that develops from the telencephalon. It consists of the neocortex (6 layered cortex or isocortex), the hippocampal formation and the olfactory cortex.
curator note: We follow NIFSTD in defining cerebral cortex and including both neocortex and hippocampal formation (DG+hippocampus).
imported from: uberon.owl
present_in_taxon: NCBITaxon_117569
external_definition: The cerebral cortex is a structure within the brain that plays a key role in memory, attention, perceptual awareness, thought, language, and consciousness. It constitutes the outermost layer of the cerebrum. In preserved brains, it has a grey color, hence the name 'grey matter'. Grey matter is formed by neurons and their unmyelinated fibers, whereas the white matter below the grey matter of the cortex is formed predominantly by myelinated axons interconnecting different regions of the central nervous system. The human cerebral cortex is 2-4 mm (0.08-0.16 inches) thick. The surface of the cerebral cortex is folded in large mammals, such that more than two-thirds of the cortical surface is buried in the grooves, called 'sulci. ' The phylogenetically most recent part of the cerebral cortex, the neocortex, also called isocortex, is differentiated into six horizontal layers; the more ancient part of the cerebral cortex, the hippocampus (also called archicortex), has at most three cellular layers, and is divided into subfields. Relative variations in thickness or cell type (among other parameters) allow us to distinguish between different neocortical architectonic fields. The geometry of at least some of these fields seems to be related to the anatomy of the cortical folds, and, for example, layers in the upper part of the cortical ridges seem to be more clearly differentiated than in its deeper parts. [WP,unvetted][Wikipedia:Cerebral_cortex].
homology_notes: Migration of neurons from the basal or striatal portions of the anterior part of the neural tube occurs to varying degrees in different vertebrate classes, but a true cerebral cortex is generally acknowledged to have made its first appearance in reptiles. The definition can be unambiguous, since 'cortex' simply implies the existence of a surface neuronal layer with an overlying 'zonal lamina' or 'molecular' layer containing dendrites and axons, which is separated from the underlying basal 'matrix' by white matter. Although reptilian cerebral cortex does indeed fulfill these conditions in certain locations, the separation from striatal structures is often indistinct, so that it may even be argued that some primitive dipnoans possess a pallium or cortex. Nevertheless, an extensive laminated layer separated by underlying white matter is well represented only in reptiles and mammals.[well established][VHOG]
taxon_notes: hagfishes have independently evolved a highly laminated cerebral cortex, comparable in many ways to the cerebral cortex of mammals [http://icb.oxfordjournals.org/content/42/4/743]
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/5096551
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Cerebral cortex
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0007776
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/362880003
database_cross_reference: BAMS:C
database_cross_reference: BAMS:CTX
database_cross_reference: BAMS:Cerebral_cortex
database_cross_reference: BAMS:Cx
database_cross_reference: BIRNLEX:1494
database_cross_reference: BM:Tel-Cx
database_cross_reference: BTO:0000233
database_cross_reference: CALOHA:TS-0091
database_cross_reference: DHBA:10159
database_cross_reference: EFO:0000328
database_cross_reference: EHDAA2:0000234
database_cross_reference: EHDAA:5464
database_cross_reference: EMAPA:17544
database_cross_reference: EV:0100166
database_cross_reference: FMA:61830
database_cross_reference: GAID:629
database_cross_reference: HBA:4008
database_cross_reference: MA:0000185
database_cross_reference: MAT:0000108
database_cross_reference: MBA:688
database_cross_reference: MESH:A08.186.211.730.885.213
database_cross_reference: MIAA:0000108
database_cross_reference: NCIT:C12443
database_cross_reference: PBA:128011354
database_cross_reference: UMLS:C0007776
database_cross_reference: VHOG:0000722
alternative_term: cortex of cerebral hemisphere
has_obo_namespace: uberon
has_related_synonym: brain cortex
has_related_synonym: cortex cerebralis
has_related_synonym: cortex cerebri
has_related_synonym: cortical plate (CTXpl)
has_related_synonym: cortical plate (areas)
has_related_synonym: pallium of the brain
id: UBERON:0000956
in subset: efo slim
in subset: pheno slim
in subset: uberon slim
from pub med: true

lamina
type: Class
subclass of: tissue
definition: Any thin layer or plate.
editor note: TODO - merge with cell layer?
imported from: uberon.owl
has_relational_adjective: laminar
database_cross_reference: Lamina of the vertebral arch
alternative_term: laminar tissue
has_obo_namespace: uberon
id: UBERON:0000957
in subset: non informative
in subset: uberon slim
in subset: upper level

pons
type: Class
subclass of: regional part of brain
definition: The part of the central nervous system lying between the medulla oblongata and the midbrain, ventral to the cerebellum.
editor note: The pons is not present in zebrafish. In this ontology we currently have some structures which are applicable to zebrafish appearing as parts of the pons. Currently we only include the weaker dubious_for_taxon relationship ubtil this is resolved
imported from: uberon.owl
external_definition: The part of the central nervous system lying between the medulla oblongata and the midbrain, ventral to the cerebellum. [TFD][VHOG]
homology_notes: During the embryonic development of birds and mammals, neuroblasts migrate from the cerebellum into the ventral part of the rhombencephalon and differentiate into pontine and other nuclei, which relay information from between the cerebrum and cerebellum, and a conspicuous band of transverse fibers. This region is known as the pons. A pons does not differentiate in reptiles and anamniotes (...).[well established][VHOG]
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Pons
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0032639
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1280999
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/279103004
database_cross_reference: BAMS:PONS
database_cross_reference: BAMS:Pons
database_cross_reference: BIRNLEX:733
database_cross_reference: BM:Pons
database_cross_reference: BTO:0001101
database_cross_reference: CALOHA:TS-0813
database_cross_reference: DHBA:10661
database_cross_reference: EFO:0001394
database_cross_reference: EHDAA2:0004394
database_cross_reference: EMAPA:17563
database_cross_reference: EV:0100253
database_cross_reference: FMA:67943
database_cross_reference: GAID:578
database_cross_reference: HBA:9131
database_cross_reference: MA:0000204
database_cross_reference: MAT:0000115
database_cross_reference: MBA:771
database_cross_reference: MESH:D011149
database_cross_reference: MIAA:0000115
database_cross_reference: NCIT:C12511
database_cross_reference: UMLS:C0032639
database_cross_reference: UMLS:C1280999
database_cross_reference: VHOG:0001176
alternative_term: pons Varolii
alternative_term: pons of Varolius
has_obo_namespace: uberon
has_related_synonym: pons cerebri
id: UBERON:0000988
in subset: efo slim
in subset: pheno slim
in subset: uberon slim
from ESSO: true

axon tract
type: Class
subclass of: neuron projection bundle
subclass of: central nervous system cell part cluster
definition: A group of axons linking two or more neuropils and having a common origin, termination[FBbt].
imported from: uberon.owl
external_definition: White matter structure of CNS that contains axons that arise predominantly in one central nervous system part and terminate in another. Tracts are generally named by their region or origin followed by their region of primary termination, e.g., mammillothalamic tract contains axons that arise from neurons in the mammillary bodies and terminate in the thalamus. (CUMBO)
database_cross_reference: BIRNLEX:1649
database_cross_reference: EV:0100304
database_cross_reference: FBbt:00005100
database_cross_reference: FMA:83847
database_cross_reference: NLX:147822
alternative_term: axonal tract
alternative_term: neuraxis tract
alternative_term: tract of neuraxis
has_narrow_synonym: nerve tract
has_obo_namespace: uberon
has_related_synonym: nerve tract
has_related_synonym: tract
id: UBERON:0001018
in subset: cumbo
in subset: pheno slim
comment: WP says this is the analog of peripheral nerves in CNS.

nervous system commissure
type: Class
subclass of: axon tract
definition: Axon tract that crosses the midline of the central nervous system[NIF, modified]. In the context of Drosophila refers to a broad band of axons connecting equivalent neuropils each side of the brain[FBbt].
imported from: uberon.owl
external_definition: White matter fiber bundle that crosses the midline of the brain or spinal cord, that connects similar structures on both sides. (CUMBO; Heimer, L. The Human Brain, 2nd ed., 1995, pg 6)
has_relational_adjective: commissural
contributor: cmungall
contributor: mellybelly
has_broad_synonym: commissure
database_cross_reference: Commissure
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1185742
database_cross_reference: FBbt:00005103
database_cross_reference: FMA:83906
database_cross_reference: NCIT:C32349
database_cross_reference: NLX:110
database_cross_reference: NLXANAT:20090513
database_cross_reference: OpenCyc:Mx4rdBrmE6gOEdudWQACs5b6Bw
database_cross_reference: TADS:0000201
database_cross_reference: UMLS:C1185742
alternative_term: commissure of neuraxis
alternative_term: neuraxis commissure
has_narrow_synonym: white matter commissure
has_obo_namespace: uberon
id: UBERON:0001020
in subset: cumbo
in subset: uberon slim
comment: *not* the same as FMA:76741 Commissure

anatomical entity
type: Class
subclass of: material entity
subclass of: Restriction
  on property: isAnatomicalEntityFor
  some values from: epilepsy
definition: Biological entity that is either an individual member of a biological species or constitutes the structural organization of an individual member of a biological species.
imported from: uberon.owl
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1515976
database_cross_reference: AAO:0010841
database_cross_reference: AEO:0000000
database_cross_reference: BILA:0000000
database_cross_reference: BIRNLEX:6
database_cross_reference: CARO:0000000
database_cross_reference: EHDAA2:0002229
database_cross_reference: FBbt:10000000
database_cross_reference: FBbt_root:00000000
database_cross_reference: FMA:62955
database_cross_reference: HAO:0000000
database_cross_reference: MA:0000001
database_cross_reference: NCIT:C12219
database_cross_reference: TAO:0100000
database_cross_reference: TGMA:0001822
database_cross_reference: UMLS:C1515976
database_cross_reference: WBbt:0000100
database_cross_reference: XAO:0000000
database_cross_reference: ZFA:0100000
has_obo_namespace: uberon
id: UBERON:0001062
in subset: upper level

primary motor cortex
type: Class
subclass of: regional part of brain
definition: The part of the cerebral cortex that receives projections from the motor thalamus and which projects to motor neurons in the brainstem and spinal cord. The motor cortex corresponds to Brodmann's area 4 (MM). The primary motor cortex, or M1, is located on the precentral gyrus and on the anterior paracentral lobule on the medial surface of the brain. Of the three motor cortex areas, stimulation of the primary motor cortex requires the least amount of electrical current to elicit a movement. http://neuroscience.uth.tmc.edu/s3/chapter03.html
editor note: TODO - in MA this is asserted to be part_of BOTH frontal and parietal cortex. in ABA these are disjoint. FMA makes no commitment beyond cerebral cortex. Wikipedia says frontal lobe. Check if species difference or difference in definition. Removed relationship: part_of UBERON:0001872 parietal lobe
imported from: uberon.owl
external_definition: The part of the cerebral cortex that receives projections from the motor thalamus and which projects to motor neurons in the brainstem and spinal cord. The motor cortex corresponds to Brodmann's area 4 (MM). The primary motor cortex, or M1, is located on the precentral gyrus and on the anterior paracentral lobule on the medial surface of the brain. Of the three motor cortex areas, stimulation of the primary motor cortex requires the least amount of electrical current to elicit a movement. http://neuroscience.uth.tmc.edu/s3/chapter03.html
external_definition: the area of the frontal lobe that is involved with integration of voluntary movements and with speech.[MP]
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Primary motor cortex
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0026607
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/11931008
database_cross_reference: BAMS:M1
database_cross_reference: BAMS:MO
database_cross_reference: BAMS:MOp
database_cross_reference: BM:Tel-Cx-M1
database_cross_reference: BTO:0004348
database_cross_reference: DHBA:10162
database_cross_reference: EFO:0002472
database_cross_reference: EMAPA:35704
database_cross_reference: FMA:224854
database_cross_reference: MA:0000907
database_cross_reference: MBA:985
database_cross_reference: MESH:A08.186.211.730.885.213.270.548
database_cross_reference: NCIT:C97339
database_cross_reference: NLX:143555
database_cross_reference: UMLS:C0026607
alternative_term: motor cortex
has_obo_namespace: uberon
has_related_synonym: Rolando's area
has_related_synonym: excitable area
has_related_synonym: gyrus precentralis
has_related_synonym: motor area
has_related_synonym: prefrontal gyrus
has_related_synonym: primary motor area
has_related_synonym: somatic motor areas
has_related_synonym: somatomotor areas
id: UBERON:0001384
in subset: efo slim
in subset: pheno slim
in subset: uberon slim
from ESSO: true

temporal lobe
type: Class
subclass of: lobe of cerebral hemisphere
definition: Lower lateral part of the cerebral hemisphere. (MSH)
imported from: uberon.owl
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Temporal lobe
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0039485
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1268978
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/180921000
database_cross_reference: BAMS:TL
database_cross_reference: BAMS:Temporal_lobe
database_cross_reference: BIRNLEX:1160
database_cross_reference: BTO:0001355
database_cross_reference: CALOHA:TS-1020
database_cross_reference: DHBA:12139
database_cross_reference: EFO:0000917
database_cross_reference: EMAPA:18797
database_cross_reference: EV:0100169
database_cross_reference: FMA:61825
database_cross_reference: GAID:635
database_cross_reference: HBA:4132
database_cross_reference: MAT:0000508
database_cross_reference: MESH:A08.186.211.730.885.213.863
database_cross_reference: NCIT:C12353
database_cross_reference: OpenCyc:Mx4rwQLi-ZwpEbGdrcN5Y29ycA
database_cross_reference: UMLS:C0039485
database_cross_reference: UMLS:C1268978
alternative_term: lobus temporalis
has_narrow_synonym: temporal cortex
has_obo_namespace: uberon
id: UBERON:0001871
in subset: efo slim
in subset: pheno slim
in subset: uberon slim
comment: Boundary notes: It is bounded dorsally by the lateral fissure and posteriorly by an arbitrary border shared with the occipital lobe. [Wikipedia:Temporal_lobe]
from ESSO: true

parietal lobe
type: Class
subclass of: lobe of cerebral hemisphere
definition: Upper central part of the cerebral hemisphere. (MSH)
imported from: uberon.owl
has_broad_synonym: parietal region
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Parietal lobe
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0030560
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/180922007
database_cross_reference: BAMS:Parietal_lobe
database_cross_reference: BIRNLEX:1148
database_cross_reference: BTO:0001001
database_cross_reference: CALOHA:TS-0747
database_cross_reference: DHBA:12131
database_cross_reference: EFO:0000914
database_cross_reference: EV:0100168
database_cross_reference: FMA:61826
database_cross_reference: GAID:680
database_cross_reference: HBA:4084
database_cross_reference: MAT:0000506
database_cross_reference: MESH:A08.186.211.730.885.213.670
database_cross_reference: NCIT:C12354
database_cross_reference: OpenCyc:Mx4rvg-typwpEbGdrcN5Y29ycA
database_cross_reference: UMLS:C0030560
alternative_term: regio parietalis
has_obo_namespace: uberon
has_related_synonym: lobus parietalis
id: UBERON:0001872
in subset: efo slim
in subset: pheno slim
in subset: uberon slim
from ESSO: true

amygdala
type: Class
subclass of: basal ganglion
subclass of: cerebral hemisphere gray matter
definition: Subcortical brain region lying anterior to the hippocampal formation in the temporal lobe and anterior to the temporal horn of the lateral ventricle in some species. It is usually subdivided into several groups. Functionally, it is not considered a unitary structure (MM).
imported from: uberon.owl
external_definition: Subdivision of basal ganglion of telencephalon which is an almond-shaped gray mass in the dorsomedial part of the temporal lobe[FMA:61841]
homology_notes: One part of the striatum is called the archistriatum. (...) The archistriatum of fishes consists of several indistinctly segregated nuclei called the amygdaloid (...) complex. Tetrapods retain the structure, and in mammals the corresponding amygdala is a globular mass that tends to be ventral to the other basal nuclei.[well established][VHOG]
has_relational_adjective: amygdalar
external_ontology_notes: MA and FMA differ on relationship to basal ganglion. The FMA text def suggests a subdivision, but it is classified as a subtype
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/23671345
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Amygdala
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0002708
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/279404004
database_cross_reference: BAMS:AMY
database_cross_reference: BAMS:Amg
database_cross_reference: BAMS:Amy
database_cross_reference: BAMS:Amygdala
database_cross_reference: BAMS:Amygdaloid_complex
database_cross_reference: BIRNLEX:1241
database_cross_reference: BM:Tel-Am
database_cross_reference: BTO:0001042
database_cross_reference: CALOHA:TS-0037
database_cross_reference: DHBA:10361
database_cross_reference: EFO:0000252
database_cross_reference: EMAPA:32672
database_cross_reference: EMAPA:36051
database_cross_reference: EV:0100189
database_cross_reference: EV:0100190
database_cross_reference: FMA:61841
database_cross_reference: GAID:616
database_cross_reference: HBA:4327
database_cross_reference: MA:0000887
database_cross_reference: MAT:0000289
database_cross_reference: MESH:A08.186.211.577.090
database_cross_reference: MIAA:0000289
database_cross_reference: NCIT:C12440
database_cross_reference: OpenCyc:Mx4rwJC_2ZwpEbGdrcN5Y29ycA
database_cross_reference: PBA:4002
database_cross_reference: UMLS:C0002708
database_cross_reference: VHOG:0001277
alternative_term: amygdaloid body
alternative_term: amygdaloid complex
alternative_term: amygdaloid nuclear complex
alternative_term: amygdaloid nuclear groups
alternative_term: archistriatum
has_obo_namespace: uberon
has_related_synonym: amygdaloid area
has_related_synonym: amygdaloid nuclear group
has_related_synonym: amygdaloid nucleus
has_related_synonym: corpus amygdalae
has_related_synonym: corpus amygdaloideum
has_related_synonym: nucleus amygdalae
id: UBERON:0001876
in subset: efo slim
in subset: pheno slim
in subset: uberon slim
from pub med: true

forebrain
type: Class
subclass of: regional part of brain
definition: The most anterior region the brain including both the telencephalon and diencephalon.
imported from: uberon.owl
external_definition: Most anterior of the three regions of the brain consisting of the telencephalon and diencephalon.[AAO]
external_definition: The most anterior region the brain including both the telencephalon and diencephalon. Kimmel et al, 1995.[TAO]
axiom_lost_from_external_ontology: relationship loss: develops_from forebrain neural tube (TAO:0007041)[TAO]
homology_notes: In craniate embryos, neural expression of Distal-less-related genes is exclusively in the forebrain (...). Because the major neural expression domain of amphioxus AmphiDll is in the anterior three-fourths of the cerebral vesicle, we suggest that this region of the neural tube is homologous to parts of the craniate forebrain. This conclusion is strongly supported by three-dimensional, computer-assisted reconstruction of the neural tube of amphioxus based on serial transmission electron microscopy. At the neuroanatomical level, a number of detailed homologies are indicated between the anterior three-fourths of the amphioxus cerebral vesicle and the diencephalic region of the craniate forebrain. If one assumes that the amphioxus condition fairly represents the nervous system of the proximate ancestor of the craniates, one can suggest that they evolved from a creature that had the beginnings of a forebrain.[well established][VHOG]
has_relational_adjective: prosencephalic
has_broad_synonym: FB
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Forebrain
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0085140
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/362291003
database_cross_reference: AAO:0010147
database_cross_reference: BAMS:FB
database_cross_reference: BAMS:Forebrain
database_cross_reference: BIRNLEX:1509
database_cross_reference: BTO:0000478
database_cross_reference: CALOHA:TS-0380
database_cross_reference: DHBA:10156
database_cross_reference: DMBA:15566
database_cross_reference: EFO:0000909
database_cross_reference: EHDAA2:0000556
database_cross_reference: EHDAA:3470
database_cross_reference: EMAPA:16895
database_cross_reference: FMA:61992
database_cross_reference: MA:0000170
database_cross_reference: MAT:0000105
database_cross_reference: MESH:D016548
database_cross_reference: MIAA:0000105
database_cross_reference: NCIT:C40185
database_cross_reference: TAO:0000109
database_cross_reference: UMLS:C0085140
database_cross_reference: VHOG:0000383
database_cross_reference: XAO:0000011
database_cross_reference: ZFA:0000109
has_obo_namespace: uberon
has_related_synonym: prosencephalon
id: UBERON:0001890
in subset: efo slim
in subset: pheno slim
in subset: uberon slim
in subset: vertebrate core

midbrain
type: Class
subclass of: regional part of brain
definition: The midbrain is the middle division of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes a ventral part containing the cerebral peduncles and a dorsal tectum containing the corpora quadrigemina and that surrounds the aqueduct of Sylvius connecting the third and fourth ventricles)[GO].
editor note: developmental relationships need revised
imported from: uberon.owl
external_definition: Middle part of the brain composed of the optic tectum and penducular region.[AAO]
external_definition: The brain region between the forebrain anteriorly and the hindbrain posteriorly, including the tectum dorsally and the midbrain tegmentum ventrally. Kimmel et al, 1995.[TAO]
homology_notes: Fine structural, computerized three-dimensional (3D) mapping of cell connectivity in the amphioxus nervous system and comparative molecular genetic studies of amphioxus and tunicates have provided recent insights into the phylogenetic origin of the vertebrate nervous system. The results suggest that several of the genetic mechanisms for establishing and patterning the vertebrate nervous system already operated in the ancestral chordate and that the nerve cord of the proximate invertebrate ancestor of the vertebrates included a diencephalon, midbrain, hindbrain, and spinal cord.[well established][VHOG]
has_relational_adjective: mesencephalic
external_ontology_notes: part of brainstem in ABA - we reject this in favor of ISBN:0471888893 which has an implicit overlaps relationships
has_broad_synonym: MB
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Midbrain
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0025462
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/279099009
database_cross_reference: AAO:0010149
database_cross_reference: BAMS:MES
database_cross_reference: BIRNLEX:1667
database_cross_reference: BM:MB
database_cross_reference: BTO:0000138
database_cross_reference: CALOHA:TS-0630
database_cross_reference: DHBA:10648
database_cross_reference: DMBA:16649
database_cross_reference: EFO:0000919
database_cross_reference: EHDAA2:0001162
database_cross_reference: EHDAA:3694
database_cross_reference: EMAPA:16974
database_cross_reference: EV:0100242
database_cross_reference: FMA:61993
database_cross_reference: HBA:9001
database_cross_reference: MA:0000207
database_cross_reference: MAT:0000106
database_cross_reference: MBA:313
database_cross_reference: MESH:D008636
database_cross_reference: MIAA:0000106
database_cross_reference: NCIT:C12510
database_cross_reference: OpenCyc:Mx4rvsBUqpwpEbGdrcN5Y29ycA
database_cross_reference: RETIRED_EHDAA2:0001104
database_cross_reference: TAO:0000128
database_cross_reference: UMLS:C0025462
database_cross_reference: VHOG:0000069
database_cross_reference: XAO:0000014
database_cross_reference: ZFA:0000128
has_obo_namespace: uberon
has_related_synonym: mesencephalon
id: UBERON:0001891
in subset: efo slim
in subset: pheno slim
in subset: uberon slim
in subset: vertebrate core
from ESSO: true

telencephalon
type: Class
subclass of: regional part of brain
definition: Part of the forebrain consisting of paired olfactory bulbs and cerebral hemispheres.
imported from: uberon.owl
external_definition: Organ component of neuraxis that has as its parts the cerebral cortex, cerebral white matter, basal ganglia, septum and fornix, as well as subcortical gray and white matter structures[FMA:62000].
external_definition: Part of the forebrain consisting of paired olfactory bulbs and cerebral hemispheres.[AAO]
external_definition: The anterior and dorsal forebrain neuromere, includes the olfactory bulb. Kimmel et al, 1995.[TAO]
axiom_lost_from_external_ontology: relationship loss: develops_from presumptive telencephalon (TAO:0000571)[TAO]
homology_notes: From an evolutionary standpoint, the telencephalon is the most recent brain structure: the amphioxus does not have this structure as a morphological entity. Overt telencephalon is present in the hagfish and lamprey to receive numerous input fibers from various parts of the CNS, similar to gnathostomes.[well established][VHOG]
has_relational_adjective: cerebral
has_relational_adjective: telenencephalic
taxon_notes: In mammals the cortex covers almost the whole of the cerebral hemispheres.
taxon_notes: In ray-finned fishes and most pronounced in teleosts the roof plate of the embryonic telencephalon extends laterally with the effect that the paired alar plates forming the hemispheric walls roll out lateroventrally in a process called eversion. This is unlike the development in other vertebrate groups. [ZFA:0000079, ISBN:3764351209]
taxon_notes: In ray-finned fishes the inner surfaces of the lateral and ventral regions of the cerebrum bulge up into the ventricles.
taxon_notes: In the amniotes, the cerebrum becomes increasingly large and complex. In reptiles, the paleopallium is much larger than in amphibians, and its growth has pushed the basal nuclei into the central regions of the cerebrum.
taxon_notes: In the most primitive living vertebrates, the hagfishes and lampreys, the cerebrum is a relatively simple structure receiving nerve impulses from the olfactory bulb.
taxon_notes: The cerebrum of birds has evolved along different lines to that of mammals, although they are similarly enlarged, by comparison with reptiles. However, this enlargement is largely due to the basal ganglia, with the other areas remaining relatively primitive in structure.
taxon_notes: dolphins are the only species (other than humans) to have cerebra accounting for as much as 2 percent of their body weight.
has_broad_synonym: supratentorial region
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Telencephalon
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0039452
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/263353005
database_cross_reference: AAO:0010479
database_cross_reference: BAMS:CB
database_cross_reference: BAMS:CH
database_cross_reference: BAMS:IV
database_cross_reference: BAMS:Tel
database_cross_reference: BIRNLEX:1115
database_cross_reference: BM:Tel
database_cross_reference: BTO:0000239
database_cross_reference: CALOHA:TS-1018
database_cross_reference: DHBA:10158
database_cross_reference: EFO:0000912
database_cross_reference: EHDAA2:0001982
database_cross_reference: EMAPA:16910
database_cross_reference: EV:0100165
database_cross_reference: FMA:62000
database_cross_reference: GAID:621
database_cross_reference: HBA:4007
database_cross_reference: MA:0000183
database_cross_reference: MAT:0000421
database_cross_reference: MBA:567
database_cross_reference: MESH:D013687
database_cross_reference: MIAA:0000421
database_cross_reference: PBA:128011350
database_cross_reference: TAO:0000079
database_cross_reference: UMLS:C0039452
database_cross_reference: VHOG:0000283
database_cross_reference: XAO:0000012
database_cross_reference: ZFA:0000079
alternative_term: cerebrum
alternative_term: endbrain
has_obo_namespace: uberon
id: UBERON:0001893
in subset: efo slim
in subset: pheno slim
in subset: uberon slim
in subset: vertebrate core
from ESSO: true

diencephalon
type: Class
subclass of: regional part of brain
definition: The division of the forebrain that develops from the foremost primary cerebral vesicle.
imported from: uberon.owl
present_in_taxon: NCBITaxon 7762
external_definition: The more posterior and ventral of two forebrain neuromeres, the other being the telencephalon; major derivatives are the eye cups, the brain pretectal region, the thalamus, hypothalamus, and epithalamus (including the habenula and epiphysis). Kimmel et al, 1995.[TAO]
external_definition: Unpaired part of the forebrain comprised of three major parts; the epithalamus, thalamus, and hypothalamus.[AAO]
homology_notes: Fine structural, computerized three-dimensional (3D) mapping of cell connectivity in the amphioxus nervous system and comparative molecular genetic studies of amphioxus and tunicates have provided recent insights into the phylogenetic origin of the vertebrate nervous system. The results suggest that several of the genetic mechanisms for establishing and patterning the vertebrate nervous system already operated in the ancestral chordate and that the nerve cord of the proximate invertebrate ancestor of the vertebrates included a diencephalon, midbrain, hindbrain, and spinal cord.[well established][VHOG]
has_relational_adjective: diencephalic
external_ontology_notes: in ABA, this is part of the brain stem
has_broad_synonym: DiE
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Diencephalon
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0012144
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/279328001
database_cross_reference: AAO:0010481
database_cross_reference: BAMS:DI
database_cross_reference: BAMS:Di
database_cross_reference: BAMS:DiE
database_cross_reference: BAMS:IB
database_cross_reference: BAMS:Zh.
database_cross_reference: BIRNLEX:1503
database_cross_reference: BM:Die
database_cross_reference: BTO:0000342
database_cross_reference: CALOHA:TS-0199
database_cross_reference: DHBA:10389
database_cross_reference: DMBA:16308
database_cross_reference: EFO:0000911
database_cross_reference: EHDAA2:0000385
database_cross_reference: EHDAA:1969
database_cross_reference: EHDAA:2645
database_cross_reference: EHDAA:3472
database_cross_reference: EMAPA:16896
database_cross_reference: EV:0100194
database_cross_reference: FMA:62001
database_cross_reference: GAID:618
database_cross_reference: HBA:4391
database_cross_reference: MA:0000171
database_cross_reference: MAT:0000420
database_cross_reference: MBA:1129
database_cross_reference: MESH:A08.186.211.730.385
database_cross_reference: MIAA:0000420
database_cross_reference: NCIT:C12456
database_cross_reference: OpenCyc:Mx4rwC-V0JwpEbGdrcN5Y29ycA
database_cross_reference: PBA:128013010
database_cross_reference: TAO:0000101
database_cross_reference: UMLS:C0012144
database_cross_reference: VHOG:0000318
database_cross_reference: XAO:0000013
database_cross_reference: ZFA:0000101
alternative_term: between brain
alternative_term: interbrain
alternative_term: mature diencephalon
alternative_term: thalamencephalon
has_obo_namespace: uberon
has_related_synonym: betweenbrain
has_related_synonym: diencephalon
id: UBERON:0001894
in subset: efo slim
in subset: pheno slim
in subset: uberon slim
in subset: vertebrate core
from ESSO: true

medulla oblongata
type: Class
subclass of: organ part
definition: Organ component of neuraxis that has as its parts the medullary reticular formation, inferior olivary complex and cochlear nuclear complex, among other structures[FMA]. The medulla oblongata lies directly above the spinal cord and controls vital autonomic functions such as digestion, breathing and the control of heart rate[GO].
imported from: uberon.owl
external_definition: Posterior portion of the hindbrain which controls respiration, heartbeat, digestion, and swallowing as well as some locomotor responses.[AAO]
external_definition: The posterior region of the brain that is continuous with the spinal cord. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-17, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG]
homology_notes: Classical anatomical studies subdivided the vertebrate rhombencephalon into pons and medulla oblongata. (...) The medulla oblongata appears therefore as a tagma, that is, a group of segmental units (pseudorhombomeres, in this case) sharing some morphological and molecular characteristics, and in some aspects different from the segmental units present in adjoining brain regions, pons and spinal cord.[well established][VHOG]
has_broad_synonym: bulb
has_broad_synonym: medulla
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Bone marrow of ovary oblongata
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0025148
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1269575
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/279104005
database_cross_reference: AAO:0010486
database_cross_reference: BAMS:MY
database_cross_reference: BAMS:Md
database_cross_reference: BIRNLEX:957
database_cross_reference: BM:Me
database_cross_reference: BTO:0000041
database_cross_reference: CALOHA:TS-0607
database_cross_reference: DMBA:17352
database_cross_reference: EFO:0000924
database_cross_reference: EHDAA2:0001088
database_cross_reference: EHDAA:7588
database_cross_reference: EMAPA:17550
database_cross_reference: EV:0100275
database_cross_reference: FMA:62004
database_cross_reference: GAID:590
database_cross_reference: MA:0000206
database_cross_reference: MAT:0000111
database_cross_reference: MAT:0000367
database_cross_reference: MBA:354
database_cross_reference: MESH:D008526
database_cross_reference: MIAA:0000111
database_cross_reference: NCIT:C12442
database_cross_reference: OpenCyc:Mx4rvVjxSJwpEbGdrcN5Y29ycA
database_cross_reference: OpenCyc:Mx4rwCqnXJwpEbGdrcN5Y29ycA
database_cross_reference: TAO:0000545
database_cross_reference: UMLS:C0025148
database_cross_reference: UMLS:C1269575
database_cross_reference: VHOG:0000181
database_cross_reference: XAO:0003100
database_cross_reference: ZFA:0000545
alternative_term: bulbus
has_obo_namespace: uberon
has_related_synonym: medulla oblonzata
has_related_synonym: metepencephalon
id: UBERON:0001896
in subset: efo slim
in subset: pheno slim
in subset: uberon slim
in subset: vertebrate core
from ESSO: true

dorsal plus ventral thalamus
type: Class
subclass of: regional part of brain
definition: Subcortical brain region consisting of paired gray matter bodies in the dorsal diencephalon and forming part of the lateral wall of the third ventricle of the brain. The thalamus represents the major portion of the diencephalon and is commonly divided into cellular aggregates known as nuclear groups.(MeSH). The dorsal topographic division of the interbrain. The macrodissected adult human thalamus was clearly illustrated by Vesalius in 1543 and the term as defined here was introduced by His in 1893. It includes the traditional epithalamus, dorsal thalamus, and ventral thalamus of Herrick (1910, pp. 494, 498). Also see Kuhlenbeck (1927, Ch. 9) and Jones (1985, p. 87).
imported from: uberon.owl
external_definition: One of a pair of large oval nervous structures made of gray matter and forming most of the lateral walls of the third ventricle of the brain and part of the diencephalon. [TFD][VHOG]
external_definition: Part of the diencephalon consisting of a mass of connecting fibers which relay sensory information to the cerebral cortex.[AAO]
homology_notes: (...) the brain regions of tetrapods, the structures they contain, and their basic organizational features are the same as in fishes.[well established][VHOG]
has_relational_adjective: thalamic
has_broad_synonym: Th
has_broad_synonym: thalamus
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Thalamus
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0039729
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/244433007
database_cross_reference: AAO:0010483
database_cross_reference: BAMS:TH
database_cross_reference: BAMS:Th
database_cross_reference: BIRNLEX:954
database_cross_reference: BTO:0001365
database_cross_reference: CALOHA:TS-1031
database_cross_reference: DHBA:10390
database_cross_reference: DMBA:16376
database_cross_reference: EFO:0000910
database_cross_reference: EMAPA:17540
database_cross_reference: EV:0100195
database_cross_reference: GAID:656
database_cross_reference: HBA:4392
database_cross_reference: MA:0000179
database_cross_reference: MAT:0000109
database_cross_reference: MBA:549
database_cross_reference: MESH:A08.186.211.730.385.826
database_cross_reference: MIAA:0000109
database_cross_reference: NCIT:C12459
database_cross_reference: OpenCyc:Mx4rwMPQ65wpEbGdrcN5Y29ycA
database_cross_reference: PBA:128013014
database_cross_reference: TAO:0001215
database_cross_reference: UMLS:C0039729
database_cross_reference: VHOG:0000657
database_cross_reference: ZFA:0001215
database_cross_reference: galen:Thalamus
alternative_term: wider thalamus
has_obo_namespace: uberon
has_related_synonym: thalamencephalon
has_related_synonym: thalami
has_related_synonym: thalamus opticus
id: UBERON:0001897
in subset: efo slim
in subset: pheno slim
in subset: uberon slim
in subset: vertebrate core

hypothalamus
type: Class
subclass of: regional part of brain
definition: A specialized brain region of the ventral diencephalon arising near the end of the segmentation period; the embryonic hypothalamic region will give rise to the posterior pituitary gland as well as a number of brain nuclei. [ZFA]. One of the most important functions of the hypothalamus is to link the nervous system to the endocrine system via the pituitary gland (hypophysis).[Wikipedia].
imported from: uberon.owl
dubious_for_taxon: NCBITaxon 7737
present_in_taxon: NCBITaxon_117569
present_in_taxon: Vertebrata <vertebrates>
external_definition: A specialized brain region of the ventral diencephalon arising near the end of the segmentation period; the embryonic hypothalamic region will give rise to the posterior pituitary gland as well as a number of brain nuclei. Kimmel et al, 1995.[TAO]
external_definition: Part of the diencephalon ventral to the thalamus consisting of connecting fibers and is a center for control of the autonomous nervous system.[AAO]
homology_notes: For instance, the vertebrate ventral diencephalon generates the hypothalamus which functions as a major endocrine center in cooperation with the hypophysis, the anterior part of the pituitary gland, located just ventral to the hypothalamus. In the amphioxus brain, the presence of a hypothalamus-like structure has been reported associated with the ventrally located Hatschek's pit, the hypothetical hypophysial homologue. It is thus conceivable that a hypothalamus-like structure originally involved in endocrine functions may have already been present before the establishment of vertebrates.[well established][VHOG]
has_relational_adjective: hypothalamic
taxon_notes: all vertebrates contain a hypothalamus
has_broad_synonym: Hy
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Hypothalamus
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0020663
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/264483005
database_cross_reference: AAO:0010484
database_cross_reference: BAMS:HY
database_cross_reference: BAMS:Hy
database_cross_reference: BIRNLEX:734
database_cross_reference: BM:Die-Hy
database_cross_reference: BTO:0000614
database_cross_reference: CALOHA:TS-0469
database_cross_reference: DHBA:10467
database_cross_reference: EFO:0000107
database_cross_reference: EHDAA2:0000802
database_cross_reference: EHDAA:5446
database_cross_reference: EMAPA:17536
database_cross_reference: EV:0100225
database_cross_reference: FMA:62008
database_cross_reference: GAID:460
database_cross_reference: HBA:4540
database_cross_reference: MA:0000173
database_cross_reference: MAT:0000112
database_cross_reference: MBA:1097
database_cross_reference: MESH:A08.186.211.577.482
database_cross_reference: MIAA:0000112
database_cross_reference: NCIT:C12458
database_cross_reference: OpenCyc:Mx4rwEgr9JwpEbGdrcN5Y29ycA
database_cross_reference: TAO:0000032
database_cross_reference: UMLS:C0020663
database_cross_reference: VHOG:0000179
database_cross_reference: XAO:0004070
database_cross_reference: ZFA:0000032
database_cross_reference: galen:Hypothalamus
alternative_term: preoptico-hypothalamic area
alternative_term: preoptico-hypothalamic region
has_obo_namespace: uberon
has_related_synonym: hypothalamus
id: UBERON:0001898
in subset: efo slim
in subset: pheno slim
in subset: uberon slim
in subset: vertebrate core
from ESSO: true

superior colliculus
type: Class
subclass of: regional part of brain
subclass of: visual processing part of nervous system
definition: Part of the midbrain tecturm consisting of paired bodies that sit caudal to the thalamus and surround the pineal gland in the mesencephalon of vertebrate brains. It comprises the rostral aspect of the midbrain, posterior to the periaqueductal gray and adjacent superior the inferior colliculus. The inferior and superior colliculi are known collectively as the corpora quadrigemina (Latin, quadruplet bodies). It consists of several identified cellular layers and also comprises the brachium of the superior colliculus and commissure of supeior colliculus from Wikipedia.org and Neuronames (MM).
imported from: uberon.owl
external_definition: The brain structure where the two separate inputs from the two eyes are combined into a single, integrated map.[AAO]
external_definition: The roof of the midbrain, morphologically visible by the end of the segmentation period. Kimmel et al, 1995.[TAO]
taxon_notes: The tectum is a layered structure, with a number of layers that vary by species. The superficial layers are sensory-related, and receive input from the eyes as well as other sensory systems.[1] The optic tectum is one of the fundamental components of the vertebrate brain, existing across the full range of species from hagfish to human.[4] (See the brain article for background.) Some aspects of the structure are very consistent, including a structure composed of a number of layers, with a dense input from the optic nerve to the superficial layers and another strong input conveying somatosensory input to deeper layers. Other aspects are highly variable, such as the total number of layers (from 3 in the African lungfish to 15 in the goldfish[5]), and the number of different types of cells (from 2 in the lungfish to 27 in the house sparrow[5]
taxon_notes: The term SC is used when discussing mammals, and OT for other vertebrates[WP]
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/3987648
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Superior colliculus
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0228405
database_cross_reference: AAO:0010609
database_cross_reference: BAMS:SC
database_cross_reference: BIRNLEX:1040
database_cross_reference: BM:MB-Tec-SC
database_cross_reference: BTO:0000965
database_cross_reference: DHBA:12292
database_cross_reference: DMBA:16678
database_cross_reference: EFO:0002474
database_cross_reference: EMAPA:32869
database_cross_reference: EV:0100245
database_cross_reference: FMA:62403
database_cross_reference: GAID:576
database_cross_reference: HBA:9114
database_cross_reference: MA:0001068
database_cross_reference: MESH:A08.186.211.132.659.237.816
database_cross_reference: TAO:0000445
database_cross_reference: UMLS:C0228405
database_cross_reference: XAO:0003226
database_cross_reference: ZFA:0000445
alternative_term: anterior colliculus
alternative_term: anterior corpus quadrigeminum
alternative_term: cranial colliculus
alternative_term: optic tectum
has_obo_namespace: uberon
has_related_synonym: colliculus bigeminalis oralis
has_related_synonym: colliculus cranialis
has_related_synonym: colliculus rostralis
has_related_synonym: colliculus superior
has_related_synonym: corpora bigemina
has_related_synonym: corpus quadrigeminum superius
has_related_synonym: dorsal midbrain
has_related_synonym: layers of the superior colliculus
has_related_synonym: lobus opticus
has_related_synonym: nates
has_related_synonym: optic lobe
has_related_synonym: optic tectum
has_related_synonym: strata (grisea et alba) colliculi cranialis
has_related_synonym: strata (grisea et alba) colliculi superioris
has_related_synonym: tectal lobe
has_related_synonym: tectum
has_related_synonym: tectum opticum
id: UBERON:0001945
in subset: efo slim
in subset: pheno slim
in subset: uberon slim
in subset: vertebrate core
comment: ). In hagfish, lamprey, and shark it is a relatively small structure, but in teleost fish it is greatly expanded, in some cases becoming the largest structure in the brain. (See the adjoining drawing of a codfish brain.) In amphibians, reptiles, and especially birds it is also a very significant component, but in mammals it is dwarfed by the massive expansion of the cerebral cortex.
from pub med: true

inferior colliculus
type: Class
subclass of: regional part of brain
definition: Part of the midbrain tectum, consisting of paired predominantly gray matter elevations on the dorsal aspect of the midbrain, located caudal to the superior colliculus, dorsal to the periaqueductal gray of the cerebral aqueduct and rostral to the cerebellum. According to Neuronames, the inferior colliculus comprises the central, pericentral and external nucleus and two predominantly white matter structures, the brachium of the inferior colliculus and the commissure of the inferior colliculus (MM).
imported from: uberon.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/3987648
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Inferior colliculus
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0228411
database_cross_reference: BAMS:IC
database_cross_reference: BIRNLEX:806
database_cross_reference: DHBA:12305
database_cross_reference: DMBA:16692
database_cross_reference: EFO:0002465
database_cross_reference: EMAPA:32870
database_cross_reference: EV:0100246
database_cross_reference: FMA:62404
database_cross_reference: GAID:575
database_cross_reference: HBA:9102
database_cross_reference: MA:0001067
database_cross_reference: MBA:4
database_cross_reference: MESH:A08.186.211.132.659.237.364
database_cross_reference: UMLS:C0228411
alternative_term: caudal colliculus
alternative_term: inferior colliculi
alternative_term: posterior colliculus
alternative_term: posterior corpus quadrigeminum
has_obo_namespace: uberon
has_related_synonym: colliculus caudalis
has_related_synonym: colliculus inferior
has_related_synonym: corpus bigeminalis caudalis
has_related_synonym: corpus bigeminum posterioris
has_related_synonym: corpus quadrigeminum inferius
id: UBERON:0001946
in subset: efo slim
in subset: pheno slim
in subset: uberon slim
from pub med: true

gray matter
type: Class
subclass of: central nervous system cell part cluster
definition: A nervous system structure composed primarily of nerve cell bodies (somas). May also include dendrites and the initial unmyelinated portion of axons.
imported from: uberon.owl
external_definition: Multi-tissue comprised of neurons, dendrites, axon terminals, glial cells, and capillaries.[TAO]
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Gray matter
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0018220
database_cross_reference: AEO:0001012
database_cross_reference: EHDAA2:0003136
database_cross_reference: EHDAA2_RETIRED:0004658
database_cross_reference: EMAPA:37596
database_cross_reference: FMA:67242
database_cross_reference: HBA:4006
database_cross_reference: MA:0001112
database_cross_reference: NCIT:C32695
database_cross_reference: OpenCyc:Mx4rwDdKMpwpEbGdrcN5Y29ycA
database_cross_reference: TAO:0002197
database_cross_reference: UMLS:C0018220
database_cross_reference: VHOG:0001768
database_cross_reference: ZFA:0001681
alternative_term: gray matter
alternative_term: gray matter of neuraxis
alternative_term: grey matter
alternative_term: grey matter of neuraxis
alternative_term: grey substance
alternative_term: neuronal grey matter
alternative_term: substantia grisea
has_obo_namespace: uberon
has_related_synonym: gray mater
has_related_synonym: grisea
id: UBERON:0002020
in subset: pheno slim
in subset: uberon slim
in subset: vertebrate core

occipital lobe
type: Class
subclass of: lobe of cerebral hemisphere
definition: Posterior part of the cerebral hemisphere (MSH)
imported from: uberon.owl
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Occipital lobe
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0028785
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/180923002
database_cross_reference: BAMS:OL
database_cross_reference: BAMS:Occipital_lobe
database_cross_reference: BIRNLEX:1136
database_cross_reference: BTO:0000293
database_cross_reference: CALOHA:TS-0693
database_cross_reference: DHBA:12148
database_cross_reference: EFO:0000915
database_cross_reference: EV:0100170
database_cross_reference: FMA:67325
database_cross_reference: GAID:678
database_cross_reference: HBA:4180
database_cross_reference: MAT:0000507
database_cross_reference: MESH:A08.186.211.730.885.213.571
database_cross_reference: NCIT:C12355
database_cross_reference: OpenCyc:Mx4rv9OFy5wpEbGdrcN5Y29ycA
database_cross_reference: UMLS:C0028785
alternative_term: regio occipitalis
has_obo_namespace: uberon
has_related_synonym: lobus occipitalis
id: UBERON:0002021
in subset: efo slim
in subset: pheno slim
in subset: uberon slim
from ESSO: true

hindbrain
type: Class
subclass of: regional part of brain
definition: The most posterior of the three principal regions of the brain. In mammals and birds the hindbrain is divided into a rostral metencephalon and a caudal myelencephalon. In zebrafish, with the exception of the cerebellum, the ventral remainder of the metencephalon can be separated only arbitrarily from the more caudal myelencephalic portion of the medulla oblongata (From: Neuroanatomy of the Zebrafish Brain)[ZFA]. Organ component of neuraxis that has as its parts the pons, cerebellum and medulla oblongata[FMA].
imported from: uberon.owl
present_in_taxon: NCBITaxon 7762
external_definition: Posterior part of the brain consisting of the cerebellum and medulla oblongata.[AAO]
external_definition: The most posterior of the three principal regions of the brain, forming the rhombencephalon and all or most of the metencephalon. Kimmel et al, 1995.[TAO]
axiom_lost_from_external_ontology: relationship loss: develops_from hindbrain neural tube (TAO:0007043)[TAO]
homology_notes: Fine structural, computerized three-dimensional (3D) mapping of cell connectivity in the amphioxus nervous system and comparative molecular genetic studies of amphioxus and tunicates have provided recent insights into the phylogenetic origin of the vertebrate nervous system. The results suggest that several of the genetic mechanisms for establishing and patterning the vertebrate nervous system already operated in the ancestral chordate and that the nerve cord of the proximate invertebrate ancestor of the vertebrates included a diencephalon, midbrain, hindbrain, and spinal cord.[well established][VHOG]
has_relational_adjective: rhombencephalic
external_ontology_notes: in MA, brainstem and hindbrain and part-of siblings under brain, consistent with FMA and NIF. See also notes for cerebellum. We weaken the relation in ABA to overlaps
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/23810707
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Rhombencephalon
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0035507
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1522180
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/303456008
database_cross_reference: AAO:0010150
database_cross_reference: BAMS:HB
database_cross_reference: BIRNLEX:942
database_cross_reference: BTO:0000672
database_cross_reference: CALOHA:TS-0457
database_cross_reference: DHBA:10653
database_cross_reference: DMBA:16808
database_cross_reference: EFO:0000923
database_cross_reference: EHDAA2:0000746
database_cross_reference: EHDAA:3514
database_cross_reference: EHDAA:6487
database_cross_reference: EMAPA:16916
database_cross_reference: FMA:67687
database_cross_reference: MA:0000195
database_cross_reference: MAT:0000107
database_cross_reference: MBA:1065
database_cross_reference: MESH:D012249
database_cross_reference: MIAA:0000107
database_cross_reference: NCIT:C40336
database_cross_reference: TAO:0000029
database_cross_reference: UMLS:C0035507
database_cross_reference: UMLS:C1522180
database_cross_reference: VHOG:0000070
database_cross_reference: XAO:0000015
database_cross_reference: ZFA:0000029
has_obo_namespace: uberon
has_related_synonym: rhombencephalon
id: UBERON:0002028
in subset: efo slim
in subset: pheno slim
in subset: uberon slim
in subset: vertebrate core
from pub med: true

cerebellum
type: Class
subclass of: regional part of brain
definition: Part of the metencephalon that lies in the posterior cranial fossa behind the brain stem. It is concerned with the coordination of movement[MESH]. A large dorsally projecting part of the brain concerned especially with the coordination of muscles and the maintenance of bodily equilibrium, situated between the brain stem and the back of the cerebrum , and formed in humans of two lateral lobes and a median lobe[BTO]. Brain structure derived from the anterior hindbrain, and perhaps including posterior midbrain. The cerebellum plays a role in somatic motor function, the control of muscle tone, and balance[ZFA].
imported from: uberon.owl
dubious_for_taxon: NCBITaxon_117569
present_in_taxon: NCBITaxon_117569
external_definition: Dorsal part of the hindbrain that coordinates muscle movement, posture, and balance.[AAO]
external_definition: Specialized brain region derived from the dorsal metencephalon (anterior hindbrain, and perhaps including posterior midbrain) and becoming distinctive late in the segmentation period. Kimmel et al, 1995.[TAO]
homology_notes: However, although the lamprey possesses a region comparable to the cerebellum and display expression of LjFgf8/17 at the MHB (midbrain hindbrain boundary), it does not have Purkinje cells and cerebellar nuclei, as well as components of the rhombic lip-derived cerebellar and pre-cerebellar systems. It is noteworthy that the latter structures require specific expression of Pax6 in the rhombic lip of the gnathostome hindbrain. Interestingly, the lamprey rhombic lip does not express Pax6. Thus, it is tempting to speculate that in vertebrate evolution the rostral hindbrain is incapable of differentiating into the cerebellum before the co-option of Pax6 in that region. In other words, cerebellum has been brought about as an evolutionary innovation in gnathostomes, based on exaptation of MHB, rhombic lip, and some regulatory gene expression already present in the vertebrate common ancestor.[well established][VHOG]
has_relational_adjective: cerebellar
taxon_notes: The absence of a cerebellum in hagfishes and lampreys appears to be the only exception [to the rule that vertebrates possess the same number of brain divisions]. Both hagfishes and lampreys do possess a thin band of cells located medial to the lateral line centers of the medulla (Ronan and Northcutt, 1998), which has been interpreted as a primitive cerebellum (Larsell, 1967), but more recent experimental studies (Kishida et al., 1987; Weigle and Northcutt, 1998) fail to support Larsell's claim[http://icb.oxfordjournals.org/content/42/4/743.full]
external_ontology_notes: almost all AOs agree that the cerebellum is part of the hindbrain (sometimes specifically part of the metencephalon, which, when present, is part of the hindbrain). However, ABA has cerebellum and brain stem as partof siblings, with the hindbrain part of the brainstem
has_broad_synonym: infratentorial region
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Cerebellum
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0007765
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1268981
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/180924008
database_cross_reference: AAO:0010485
database_cross_reference: BAMS:CB
database_cross_reference: BAMS:Cb
database_cross_reference: BIRNLEX:1489
database_cross_reference: BM:CB
database_cross_reference: BTO:0000232
database_cross_reference: CALOHA:TS-0125
database_cross_reference: DHBA:10656
database_cross_reference: EFO:0000327
database_cross_reference: EHDAA2:0000232
database_cross_reference: EMAPA:17787
database_cross_reference: EV:0100293
database_cross_reference: FMA:67944
database_cross_reference: GAID:595
database_cross_reference: HBA:4696
database_cross_reference: MA:0000198
database_cross_reference: MAT:0000110
database_cross_reference: MBA:512
database_cross_reference: MESH:D002531
database_cross_reference: MIAA:0000110
database_cross_reference: NCIT:C12445
database_cross_reference: OpenCyc:Mx4rvl1eipwpEbGdrcN5Y29ycA
database_cross_reference: TAO:0000100
database_cross_reference: UMLS:C0007765
database_cross_reference: UMLS:C1268981
database_cross_reference: VHOG:0000024
database_cross_reference: XAO:0003098
database_cross_reference: ZFA:0000100
alternative_term: epencephalon-1
has_obo_namespace: uberon
has_related_synonym: corpus cerebelli
has_related_synonym: parencephalon
id: UBERON:0002037
in subset: efo slim
in subset: pheno slim
in subset: uberon slim
in subset: vertebrate core
from ESSO: true

olfactory bulb
type: Class
subclass of: regional part of brain
definition: A bulbous anterior projection of the olfactory lobe that is the place of termination of the olfactory nerves and is especially well developed in lower vertebrates (as fishes)[BTO].
imported from: uberon.owl
external_definition: Part of the rostral part of the cerebrum where axons of olfactory cells from the nasal mucosa terminate. Projects onto olfactory parts of pallium via olfactory tracts
external_definition: Part of the telencephalon comprised of anterior outgrowths of either of the cerebral hemispheres in which the olfactory nerve exits.[AAO]
external_definition: Segment of neural tree organ which is continuous with a set of olfactory nerves and an olfactory tract[FMA:77624].
external_definition: The part of the forebrain in which the olfactory nerves end and the olfactory tracts originate. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG]
homology_notes: The presence of paired evaginated hemispheres and olfactory bulbs in both agnathan and gnathostome radiations suggests that such hemispheres were also present in the common ancestor.[well established][VHOG]
taxon_notes: In most vertebrates, the olfactory bulb is the most rostral (forward) part of the brain. In humans, however, the olfactory bulb is on the inferior (bottom) side of the brain. The olfactory bulb is supported and protected by the cribriform plate which in mammals, separates it from the olfactory epithelium, and which is perforated by olfactory nerve axons. The bulb is divided into two distinct structures, the main olfactory bulb, and the accessory olfactory bulb
taxon_notes: Note that in uberon 'main olfactory bulb' is a separate class, but some ontologies may treat this as partially synonymous. The distinction may only make sense in tetrapods with a vomeronasal organ (olfactory nerves terminate in OB in fishes and in main OB in tetrapods - Butler and Hodos)
development_notes: the olfactory bulbs develop as bilateral evaginations from a region of the prosencephalic neural plate intercalated between the septal and the cortical anlagen (Cobos et al. 2001b, Rubenstein et al. 1998). Comparing the structure of the olfactory bulb among vertebrate species, such as the leopard frog and the lab mouse, reveals that they all share the same fundamental layout(WP).
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26368332
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Olfactory bulb
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0028936
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/279394006
database_cross_reference: AAO:0010165
database_cross_reference: BAMS:DLB
database_cross_reference: BAMS:OB
database_cross_reference: BAMS:Olf
database_cross_reference: BIRNLEX:1137
database_cross_reference: BM:Tel-OB
database_cross_reference: BTO:0000961
database_cross_reference: CALOHA:TS-0702
database_cross_reference: DHBA:10307
database_cross_reference: EHDAA2:0004705
database_cross_reference: EMAPA:32809
database_cross_reference: EV:0100173
database_cross_reference: FMA:77624
database_cross_reference: GAID:633
database_cross_reference: HBA:9303
database_cross_reference: MA:0000194
database_cross_reference: MESH:A08.186.211.577.699.573
database_cross_reference: NCIT:C28401
database_cross_reference: TAO:0000402
database_cross_reference: UMLS:C0028936
database_cross_reference: VHOG:0000033
database_cross_reference: XAO:0004180
database_cross_reference: ZFA:0000402
alternative_term: bulbus olfactorius
has_obo_namespace: uberon
has_related_synonym: bulbus olfactorius
has_related_synonym: bulbus olfactorius (Morgagni)
has_related_synonym: olfactory lobe
has_related_synonym: olfactory lobe (Barr & Kiernan)
id: UBERON:0002264
in subset: pheno slim
in subset: uberon slim
in subset: vertebrate core
from pub med: true

third ventricle
type: Class
subclass of: brain ventricle
definition: Part of the ventricular system of the brain, forming a single large cavity in the midline of the diencephalon; it is continuous with the lateral ventricles through the interventricular foramen and the fourth ventricle through the cerebral aqueduct. (Maryann Martone)
editor note: consider adding class for secondary vesicle precursor
imported from: uberon.owl
external_definition: Fluid-filled brain cavity. Kimmel et al, 1995.[TAO]
axiom_lost_from_external_ontology: relationship loss: develops_from forebrain ventricle (TAO:0001259)[TAO]
homology_notes: The early development of most vertebrate brains is similar (...). The zebrafish neural tube follows the same basic differentiation pattern as the mammalian neural tube (reference 1); The brain develops from three embryonic enlargements of the neural tube, which later differentiate into five regions. A forebrain differentiates into telencephalon and diencephalon. The midbrain, or mesencephalon, remains undivided. The hindbrain divides into the metencephalon and myelencephalon. Cavities within the brain enlarge to form a series of interconnected ventricles (reference 2).[well established][VHOG]
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/22091816
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Third ventricle
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0149555
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/180931007
database_cross_reference: BAMS:3V
database_cross_reference: BAMS:V3
database_cross_reference: BIRNLEX:714
database_cross_reference: BM:Die-3V
database_cross_reference: CALOHA:TS-2058
database_cross_reference: DHBA:10602
database_cross_reference: EHDAA2:0000084
database_cross_reference: EMAPA:16900
database_cross_reference: EV:0100308
database_cross_reference: FMA:78454
database_cross_reference: GAID:614
database_cross_reference: HBA:9420
database_cross_reference: MA:0000182
database_cross_reference: MBA:129
database_cross_reference: MESH:D020542
database_cross_reference: NCIT:C12827
database_cross_reference: OpenCyc:Mx4rvakhcJwpEbGdrcN5Y29ycA
database_cross_reference: TAO:0000161
database_cross_reference: UMLS:C0149555
database_cross_reference: VHOG:0000007
database_cross_reference: ZFA:0000161
alternative_term: 3rd ventricle
alternative_term: ventriculus diencephali
has_narrow_synonym: diencephalic vesicle
has_obo_namespace: uberon
has_related_synonym: diencephalic ventricle
has_related_synonym: ventriculus tertius cerebri
id: UBERON:0002286
in subset: pheno slim
in subset: uberon slim
in subset: vertebrate core
from pub med: true

brainstem
type: Class
subclass of: regional part of brain
definition: Stalk-like part of the brain that includes amongst its parts the medulla oblongata of the hindbrain and the tegmentum of the midbrain[ZFA,MP,generalized].
imported from: uberon.owl
external_definition: Multi-tissue structure that has as its parts the medulla oblongata of the hindbrain and the tegmentum of the midbrain.[TAO]
external_definition: Multi-tissue structure that has as its parts the medulla oblongata of the hindbrain and the tegmentum of the midbrain[ZFA,adopted][ZFA:0001707].
external_definition: the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord[MP]
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Brainstem
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0006121
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/180925009
database_cross_reference: BAMS:BS
database_cross_reference: BIRNLEX:1565
database_cross_reference: BTO:0000146
database_cross_reference: CALOHA:TS-0093
database_cross_reference: EFO:0001962
database_cross_reference: EMAPA:32678
database_cross_reference: EV:0100241
database_cross_reference: FMA:79876
database_cross_reference: MA:0000169
database_cross_reference: MBA:343
database_cross_reference: MESH:D001933
database_cross_reference: NCIT:C12441
database_cross_reference: TAO:0002156
database_cross_reference: UMLS:C0006121
database_cross_reference: VHOG:0001457
database_cross_reference: ZFA:0001707
alternative_term: brain stem
alternative_term: truncus encephali
has_obo_namespace: uberon
has_related_synonym: accessory medullary lamina of pallidum
has_related_synonym: lamella pallidi incompleta
has_related_synonym: lamina medullaris accessoria
has_related_synonym: lamina medullaris incompleta pallidi
has_related_synonym: lamina pallidi incompleta
has_related_synonym: truncus encephalicus
id: UBERON:0002298
in subset: efo slim
in subset: pheno slim
in subset: uberon slim
in subset: vertebrate core
comment: 'brainstem' is a loose term that sometimes refers to the ventral parts o the brain except for any part of the telencephalon - sometimes it includes the diencephalon or subpallial telencephalon structures (ISBN:0471888893). Here we use it in a more restriced sense, to include only the medulla oblongata, pons (when present) and the midbrain tegmentum (following the ZFA definitions).
from ESSO: true

nucleus of brain
type: Class
subclass of: neural nucleus
definition: A neural nucleus that is part of the brain.
imported from: uberon.owl
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1706993
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/426465002
database_cross_reference: EMAPA:35185
database_cross_reference: FMA:83840
database_cross_reference: MA:0000811
database_cross_reference: NCIT:C49346
database_cross_reference: UMLS:C1706993
database_cross_reference: ZFA:0005575
alternative_term: brain nucleus
has_obo_namespace: uberon
has_related_synonym: brain nuclei
id: UBERON:0002308

midbrain tectum
type: Class
subclass of: regional part of brain
definition: Dorsal part of the midbrain, consisting of the superior and inferior colliculi and the pretectal nuclei (MM).
imported from: uberon.owl
homology_notes: The tectum - a multisensory, topologically mapped structure in the roof of the midbrain presents a remarkable degree of conservation in all vertebrate radiations; although it varies in the extent of its development in different vertebrate classes, there is considerable evidence now to deem its layered structure, its cell types, and its hodological pattern as homologous in all vertebrates.[well established][VHOG]
taxon_notes: In adult humans it is present only in the mesencephalon as the inferior and the superior colliculi
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/3987648
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Midbrain tectum
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0039433
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/362394008
database_cross_reference: BAMS:MTec
database_cross_reference: BAMS:Tec
database_cross_reference: BIRNLEX:1032
database_cross_reference: BM:MB-Tec
database_cross_reference: BTO:0001793
database_cross_reference: DHBA:12291
database_cross_reference: EFO:0000920
database_cross_reference: EHDAA2:0004474
database_cross_reference: EMAPA:19051
database_cross_reference: FMA:83902
database_cross_reference: HBA:9101
database_cross_reference: MA:0000211
database_cross_reference: MAT:0000451
database_cross_reference: NCIT:C12460
database_cross_reference: TAO:0001353
database_cross_reference: UMLS:C0039433
database_cross_reference: VHOG:0001388
alternative_term: mesencephalic tectum
alternative_term: neuraxis tectum
alternative_term: tectum
alternative_term: tectum mesencephali
has_obo_namespace: uberon
has_related_synonym: t. mesencephali
has_related_synonym: tectum mesencephalicum
has_related_synonym: tectum of midbrain
id: UBERON:0002314
in subset: efo slim
in subset: pheno slim
in subset: uberon slim
from pub med: true

white matter
type: Class
subclass of: central nervous system cell part cluster
definition: Neural tissue consisting of myelinated axons connecting grey matter areas of the central nervous system.
imported from: uberon.owl
external_definition: Cell part cluster consisting predominantly of neurites in the brain and the spinal cord[FMA:83929].
external_definition: Multi-tissue structure comprised largely of myelinated axons.[TAO]
homology_notes: The myelination of axons by glial cells was the last major step in the evolution of cells in the vertebrate nervous system, and white-matter tracts are key to the architecture of the mammalian brain.[well established][VHOG]
external_ontology_notes: nlx_anat_101177 seems to have been lost in the transition from NIFGA to Neurolex
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: White matter
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0682708
database_cross_reference: AEO:0000139
database_cross_reference: AEO:0001011
database_cross_reference: EMAPA:35927
database_cross_reference: FMA:83929
database_cross_reference: HBA:9218
database_cross_reference: MA:0001135
database_cross_reference: NCIT:C33892
database_cross_reference: NLX:412
database_cross_reference: NLXANAT:101177
database_cross_reference: OpenCyc:Mx4rwOAsDZwpEbGdrcN5Y29ycA
database_cross_reference: PBA:294022044
database_cross_reference: TAO:0000145
database_cross_reference: TAO:0002142
database_cross_reference: TAO:0002143
database_cross_reference: UMLS:C0682708
database_cross_reference: VHOG:0001764
database_cross_reference: ZFA:0001682
alternative_term: CNS tract/commissure
alternative_term: neuronal white matter
alternative_term: white matter of neuraxis
alternative_term: white substance
has_obo_namespace: uberon
has_related_synonym: CNS tracts and commissures
has_related_synonym: CNS white matter
has_related_synonym: substantia alba
has_related_synonym: white mater
id: UBERON:0002316
in subset: uberon slim
in subset: vertebrate core

corpus callosum
type: Class
subclass of: intercerebral commissure
subclass of: dorsal telencephalic commissure
definition: White matter structure containing massive numbers of commissural fibers connecting cortical areas in the two cerebral hemispheres.it is subdivided into a genu, a rostrum, a body, and a splenium. (MM)
imported from: uberon.owl
external_definition: The largest commissure of the brain connecting the cerebral hemispheres. [TFD][VHOG]
homology_notes: In addition to the anterior commissure, placental mammals have a phylogenetically new forebrain commissure, the corpus callosum, which primarily interconnects the neocortex of the cerebral hemispheres.[well established][VHOG]
taxon_notes: The corpus callosum is found only in placental mammals. other groups do have other brain structures that allow for communication between the two hemispheres, such as the anterior commissure, which serves as the primary mode of interhemispheric communication in marsupials.
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28912749
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Corpus callosum
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0010090
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/362354006
database_cross_reference: BAMS:CC
database_cross_reference: BAMS:cc
database_cross_reference: BIRNLEX:1087
database_cross_reference: BM:Tel-CC
database_cross_reference: BTO:0000615
database_cross_reference: CALOHA:TS-0180
database_cross_reference: DHBA:10561
database_cross_reference: EFO:0001390
database_cross_reference: EMAPA:35253
database_cross_reference: EV:0100305
database_cross_reference: FMA:86464
database_cross_reference: GAID:683
database_cross_reference: HBA:9222
database_cross_reference: MA:0000188
database_cross_reference: MAT:0000286
database_cross_reference: MBA:776
database_cross_reference: MESH:A08.186.211.730.885.362
database_cross_reference: MIAA:0000286
database_cross_reference: NCIT:C12446
database_cross_reference: OpenCyc:Mx4rvbNzdZwpEbGdrcN5Y29ycA
database_cross_reference: UMLS:C0010090
database_cross_reference: VHOG:0001608
has_obo_namespace: uberon
id: UBERON:0002336
in subset: efo slim
in subset: pheno slim
in subset: uberon slim
from article: true
from ESSO: true
from pub med: true

basal ganglion
type: Class
subclass of: brain gray matter
subclass of: nuclear complex of neuraxis
definition: An individual member of a collection of basal ganglia. Basal ganglia are subcortical masses of gray matter in the forebrain and midbrain that are richly interconnected and so viewed as a functional system. The nuclei usually included are the caudate nucleus (caudoputamen in rodents), putamen, globus pallidus, substantia nigra (pars compacta and pars reticulata) and the subthalamic nucleus. Some also include the nucleus accumbens and ventral pallidum[NIF,modified].
editor note: it is necessary to introduce two classes, one representing an individual basal ganglion, another representing the aggregate structure, in order to have consistent classification amongst AOs (e.g. in MA the aygdala is part of the BG, in FMA and BTO it is a subclass). Apart from achieving this consistency, the value of having two distinct classes is questionable, since the BG-plural is trivially the set of all BGs-singular. it would be better for all AOs to decide on one single way of doing this. Do not merge until this is done.
imported from: uberon.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/23671345
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/244434001
database_cross_reference: BTO:0000235
database_cross_reference: CALOHA:TS-1149
database_cross_reference: DHBA:10332
database_cross_reference: EFO:0000904
database_cross_reference: FMA:62514
alternative_term: basal ganglion of telencephalon
has_obo_namespace: uberon
has_related_synonym: basal ganglia
has_related_synonym: basal nucleus
has_related_synonym: nuclei basales
id: UBERON:0002420
in subset: efo slim
in subset: pheno slim
in subset: uberon slim
from pub med: true

fourth ventricle
type: Class
subclass of: brain ventricle
definition: Part of the ventricular system of the brain, forming a single large irregularly shaped cavity located on the midline of the rhombencephalon, between the medulla, pons and the isthmus ventrally and the cerebellum dorsally. It is continuous with the cerebral aqueduct anteriorally and the central canal of the spinal cord posteriorly. It communicates with the subarachnoid space through its lateral and median apertures.
imported from: uberon.owl
external_definition: Fluid-filled brain cavity. Kimmel et al, 1995.[TAO]
external_definition: Irregularly shaped cavity in the rhombencephalon, between the medulla oblongata, the pons, and the isthmus in front, and the cerebellum behind. It is continuous with the central canal of the cord below and with the cerebral aqueduct above, and through its lateral and median apertures it communicates with the subarachnoid space.[AAO]
external_definition: The fourth ventricle is an irregularly shaped cavity in the rhombencephalon, between the medulla oblongata, the pons, and the isthmus in front, and the cerebellum behind. It is continuous with the central canal of the cord below and with the cerebral aqueduct above, and through its lateral and median apertures it communicates with the subarachnoid space[GO][GO:0021592].
homology_notes: The early development of most vertebrate brains is similar (...). The zebrafish neural tube follows the same basic differentiation pattern as the mammalian neural tube (reference 1); The brain develops from three embryonic enlargements of the neural tube, which later differentiate into five regions. A forebrain differentiates into telencephalon and diencephalon. The midbrain, or mesencephalon, remains undivided. The hindbrain divides into the metencephalon and myelencephalon. Cavities within the brain enlarge to form a series of interconnected ventricles (reference 2).[well established][VHOG]
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/22091816
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Fourth ventricle
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0149556
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/180932000
database_cross_reference: AAO:0011043
database_cross_reference: BAMS:4V
database_cross_reference: BAMS:V4
database_cross_reference: BIRNLEX:1256
database_cross_reference: BM:Pons-4V
database_cross_reference: BTO:0003426
database_cross_reference: CALOHA:TS-2015
database_cross_reference: DHBA:10669
database_cross_reference: DHBA:12805
database_cross_reference: DMBA:126651782
database_cross_reference: EHDAA2:0000100
database_cross_reference: EHDAA:896
database_cross_reference: EMAPA:16917
database_cross_reference: EV:0100310
database_cross_reference: FMA:78469
database_cross_reference: GAID:610
database_cross_reference: HBA:9421
database_cross_reference: MA:0000196
database_cross_reference: MBA:145
database_cross_reference: MESH:D020546
database_cross_reference: NCIT:C12828
database_cross_reference: OpenCyc:Mx4rv-7Q6pwpEbGdrcN5Y29ycA
database_cross_reference: TAO:0000110
database_cross_reference: UMLS:C0149556
database_cross_reference: VHOG:0000006
database_cross_reference: XAO:0003099
database_cross_reference: ZFA:0000110
alternative_term: ventricle IV
has_narrow_synonym: rhombencephalic vesicle
has_obo_namespace: uberon
has_related_synonym: 4th ventricle
has_related_synonym: IVth ventricle
has_related_synonym: fourth ventricle proper
has_related_synonym: hindbrain ventricle
has_related_synonym: rhombencephalic ventricle
has_related_synonym: ventricle of hindbrain
has_related_synonym: ventricle of rhombencephalon
has_related_synonym: ventriculus quartus
id: UBERON:0002422
in subset: pheno slim
in subset: uberon slim
in subset: vertebrate core
from pub med: true

primary visual cortex
type: Class
subclass of: Brodmann area
subclass of: functional part of brain
definition: A subdivision of the cytoarchitecturally defined occipital region of cerebral cortex in the human. Defined by the band of Gennari, which gives it the name striate (furrowed) area, it occupies the banks of the calcarine sulcus which are located in the cuneus and the lingual gyrus of the occipital lobe. Cytoarchitecturally it is bounded by the area 18 of Brodmann (human) which surrounds it ( Brodmann-1909 ). In the mouse ( Paxinos-2001 ) and the rat ( Swanson-1998 ) it is located on the dorsolateral surface of the cerebral hemisphere[BrainInfo].
imported from: uberon.owl
external_ontology_notes: We explicitly merge two FMA classes here, as BA17 is equivalent to V1. In future these may be separated into functional and cytoarchitecturally defined regions with an overlaps relationship between them
has_broad_synonym: B09-17
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0038446
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272535
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/384772005
database_cross_reference: BAMS:17
database_cross_reference: BAMS:V1
database_cross_reference: BAMS:VISp
database_cross_reference: BIRNLEX:1748
database_cross_reference: BM:Tel-Cx-V1
database_cross_reference: BTO:0004703
database_cross_reference: EMAPA:35708
database_cross_reference: FMA:236871
database_cross_reference: FMA:68614
database_cross_reference: MA:0000914
database_cross_reference: MBA:385
database_cross_reference: NCIT:C97340
database_cross_reference: NLX:143552
database_cross_reference: PBA:10026
database_cross_reference: UMLS:C0038446
database_cross_reference: UMLS:C1272535
alternative_term: BA17
alternative_term: Brodmann (1909) area 17
alternative_term: Brodmann area 17
alternative_term: Brodmann area 17, striate
alternative_term: area 17 of Brodmann-1909
alternative_term: b09-17
alternative_term: striate cortex
has_obo_namespace: uberon
has_related_synonym: BA17
has_related_synonym: Brodmann area 17
has_related_synonym: V1
has_related_synonym: area 17 of Brodmann
has_related_synonym: area striata
has_related_synonym: calcarine cortex
has_related_synonym: nerve X
has_related_synonym: occipital visual neocortex
has_related_synonym: primary visual area
has_related_synonym: striate area
has_related_synonym: visual area V1
has_related_synonym: visual area one
has_related_synonym: visual association area
has_related_synonym: visual association cortex
id: UBERON:0002436
in subset: pheno slim
in subset: uberon slim
from ESSO: true

intercerebral commissure
type: Class
subclass of: commissure of telencephalon
definition: A commissure that connects the two cerebral hemispheres. Examples: anterior commissure, corpus callosum.
imported from: uberon.owl
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/360567002
database_cross_reference: EMAPA:35435
database_cross_reference: FMA:67930
database_cross_reference: MA:0002721
has_obo_namespace: uberon
has_related_synonym: commissure of cerebrum
has_related_synonym: inter-hemispheric commissure
has_related_synonym: interhemispheric commissure
id: UBERON:0002473

superior frontal sulcus
type: Class
subclass of: sulcus of brain
definition: The superior frontal sulcus is a sulcus between the superior frontal gyrus and the middle frontal gyrus. [WP,unvetted].
imported from: uberon.owl
has_broad_synonym: SFRS
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/31920906
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Superior frontal sulcus
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0228198
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/279342009
database_cross_reference: BAMS:sfrs
database_cross_reference: BAMS:sfs
database_cross_reference: BIRNLEX:1030
database_cross_reference: DHBA:10639
database_cross_reference: FMA:83755
database_cross_reference: HBA:9356
database_cross_reference: NCIT:C33676
database_cross_reference: UMLS:C0228198
alternative_term: sulcus f1
alternative_term: sulcus frontalis primus
alternative_term: sulcus frontalis superior
alternative_term: superior frontal fissure
has_obo_namespace: uberon
has_related_synonym: sulcus frontalis superior
id: UBERON:0002562
in subset: uberon slim
from ESSO: true
from pub med: true

postcentral gyrus
type: Class
subclass of: gyrus
definition: Component of the parietal lobe. The appearance and disappearance of the central sulcus were the rostral and caudal boundaries of the postcentral gyrus respectively. The medial and lateral boundaries were the lateral bank of the precentral gyrus and the lateral fissure and/or the medial bank of the superior parietal gyrus respectively (Christine Fennema-Notestine).
imported from: uberon.owl
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Postcentral gyrus
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0152302
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/279167001
database_cross_reference: BAMS:PoG
database_cross_reference: BIRNLEX:1070
database_cross_reference: BTO:0004354
database_cross_reference: DHBA:12132
database_cross_reference: EFO:0001383
database_cross_reference: FMA:61896
database_cross_reference: HBA:4085
database_cross_reference: NCIT:C33346
database_cross_reference: UMLS:C0152302
alternative_term: gyrus postcentralis
alternative_term: postcentral convolution
alternative_term: posterior central gyrus
alternative_term: postrolandic gyrus
has_obo_namespace: uberon
has_related_synonym: gyrus centralis posterior
has_related_synonym: post central gyrus
has_related_synonym: somatosensory cortex
id: UBERON:0002581
in subset: efo slim
in subset: pheno slim
in subset: uberon slim
from ESSO: true

calcarine sulcus
type: Class
subclass of: sulcus of brain
definition: The calcarine fissure is an anatomical landmark located at the caudal end of the medial surface of the brain. [WP,unvetted].
imported from: uberon.owl
has_broad_synonym: CCS
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26063964
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Calcarine sulcus
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0228224
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/279355005
database_cross_reference: BIRNLEX:1086
database_cross_reference: BM:Tel-Cx-CAS
database_cross_reference: DHBA:10612
database_cross_reference: FMA:83749
database_cross_reference: HBA:9391
database_cross_reference: NCIT:C32252
database_cross_reference: UMLS:C0228224
alternative_term: calcarine fissure
alternative_term: sulcus calcarinus
has_obo_namespace: uberon
has_related_synonym: fissura calcarina
id: UBERON:0002586
in subset: uberon slim
from ESSO: true
from pub med: true

regional part of brain
type: Class
subclass of: regional part of nervous system
definition: Anatomical divisons of the brain according to one or more criteria, e.g. cytoarchitectural, gross anatomy. Parts may be contiguous in 3D or not, e.g., basal ganglia.
imported from: uberon.owl
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0445620
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/384763002
database_cross_reference: BIRNLEX:1167
database_cross_reference: FMA:55676
database_cross_reference: NCIT:C13031
database_cross_reference: UMLS:C0445620
alternative_term: anatomical structure of brain
alternative_term: biological structure of brain
alternative_term: brain anatomical structure
alternative_term: brain biological structure
alternative_term: brain part
alternative_term: neuraxis segment
alternative_term: neuroanatomical region
alternative_term: segment of brain
has_obo_namespace: uberon
id: UBERON:0002616
in subset: non informative

superior frontal gyrus
type: Class
subclass of: frontal gyrus
definition: Component of the frontal lobe, lateral aspect. The rostral boundary is the first appearance of the superior frontal sulcus whereas the caudal boundary is the midpoint of the paracentral sulcus on the "inflated" surface. The medial and lateral boundaries are the medial aspect of the frontal lobe and the superior frontal sulcus respectively (Christine Fennema-Notestine).
imported from: uberon.owl
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Superior frontal gyrus
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0152296
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/279166005
database_cross_reference: BAMS:SFG
database_cross_reference: BIRNLEX:1303
database_cross_reference: BTO:0004836
database_cross_reference: DHBA:12115
database_cross_reference: EFO:0001991
database_cross_reference: FMA:61857
database_cross_reference: HBA:4021
database_cross_reference: NCIT:C33674
database_cross_reference: UMLS:C0152296
alternative_term: marginal gyrus
alternative_term: superior frontal convolution
has_obo_namespace: uberon
has_related_synonym: gyrus F1
has_related_synonym: gyrus frontalis primus
has_related_synonym: gyrus frontalis superior
id: UBERON:0002661
in subset: efo slim
in subset: uberon slim
from ESSO: true

angular gyrus
type: Class
subclass of: gyrus
definition: Part of inferior parietal lobule formed by the cortex surrounding the upturned end of the superior temporal sulcus (Nolte, The Human Brain, 6th ed, 2009, pg 659)
imported from: uberon.owl
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Angular gyrus
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0152305
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/279186009
database_cross_reference: BAMS:AnG
database_cross_reference: BIRNLEX:1376
database_cross_reference: DHBA:12136
database_cross_reference: FMA:61898
database_cross_reference: HBA:4111
database_cross_reference: NCIT:C32077
database_cross_reference: UMLS:C0152305
alternative_term: middle part of inferior parietal lobule
alternative_term: preoccipital gyrus
has_obo_namespace: uberon
has_related_synonym: gyrus angularis
has_related_synonym: gyrus parietalis inferior
has_related_synonym: prelunate gyrus
id: UBERON:0002686
in subset: uberon slim
from ESSO: true

supramarginal gyrus
type: Class
subclass of: gyrus
definition: Component of the parietal lobe. The first coronal slice between the superior temporal gyrus and the postcentral gyrus where the supramarginal gyrus appears was the rostral boundary whereas the slice where the supramarginal gyrus becomes continuous with the superior parietal gyrus was the caudal boundary. The medial and lateral boundaries were the lateral banks of the intraparietal sulcus and the medial banks of the lateral fissure and/or the superior temporal gyrus respectively (Christine Fennema-Notestine).
imported from: uberon.owl
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0228214
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/279185008
database_cross_reference: BAMS:SMG
database_cross_reference: BIRNLEX:1381
database_cross_reference: DHBA:12135
database_cross_reference: FMA:61897
database_cross_reference: HBA:4104
database_cross_reference: NCIT:C33706
database_cross_reference: UMLS:C0228214
alternative_term: anterior part of inferior parietal lobule
alternative_term: inferior parietal lobule (krieg)
has_obo_namespace: uberon
has_related_synonym: BA40
has_related_synonym: Brodmann area 40
has_related_synonym: gyrus supramarginalis
id: UBERON:0002688
in subset: pheno slim
in subset: uberon slim
from ESSO: true

parieto-occipital sulcus
type: Class
subclass of: subarachnoid sulcus
definition: Only a small part of the Parietooccipital Fissure (or parieto-occipital sulcus) is seen on the lateral surface of the hemisphere, its chief part being on the medial surface. The lateral part of the parietooccipital fissure (Fig. 726) is situated about 5 cm. in front of the occipital pole of the hemisphere, and measures about 1.25 cm. in length. The medial part of the parietooccipital fissure (Fig. 727) runs downward and forward as a deep cleft on the medial surface of the hemisphere, and joins the calcarine fissure below and behind the posterior end of the corpus callosum. In most cases it contains a submerged gyrus. [WP,unvetted].
imported from: uberon.owl
external_ontology_notes: two classes in ncit (in general ncit distinguishes between fissue and sulcus, whereas FMA treats these as exact synonyms)
has_broad_synonym: POS
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26063964
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Parieto-occipital sulcus
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0228191
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1744592
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/279354009
database_cross_reference: BAMS:pocs
database_cross_reference: BAMS:pos
database_cross_reference: BIRNLEX:1428
database_cross_reference: BM:Tel-Cx-POS
database_cross_reference: DHBA:10626
database_cross_reference: FMA:83754
database_cross_reference: HBA:9392
database_cross_reference: NCIT:C33275
database_cross_reference: OpenCyc:Mx4rv7l_DJwpEbGdrcN5Y29ycA
database_cross_reference: UMLS:C0228191
database_cross_reference: UMLS:C1744592
database_cross_reference: ncithesaurus:Parieto-occipital_Sulcus
alternative_term: fissura parieto-occipitalis
alternative_term: parieto-occipital fissure
alternative_term: parieto-occipital incisure
alternative_term: parietooccipital sulcus
alternative_term: sulcus parieto-occipitalis
alternative_term: sulcus parieto-occipitalis medialis
alternative_term: sulcus parietoccipitalis
alternative_term: sulcus parietooccipitalis
has_obo_namespace: uberon
has_related_synonym: fissura parietooccipitalis
has_related_synonym: posterior orbital sulcus
has_related_synonym: sulcus parietooccipitalis
id: UBERON:0002695
in subset: uberon slim
from ESSO: true
from pub med: true

middle frontal gyrus
type: Class
subclass of: frontal gyrus
definition: Component of the frontal lobe, lateral aspect (Christine Fennema-Notestine).
imported from: uberon.owl
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Middle frontal gyrus
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0152297
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/362332009
database_cross_reference: BAMS:MFG
database_cross_reference: BIRNLEX:1451
database_cross_reference: BTO:0004834
database_cross_reference: DHBA:12116
database_cross_reference: FMA:61859
database_cross_reference: HBA:4028
database_cross_reference: NCIT:C33118
database_cross_reference: UMLS:C0152297
database_cross_reference: ncithesaurus:Middle_Frontal_Gyrus
alternative_term: gyrus frontalis medialis
alternative_term: intermediate frontal gyrus
alternative_term: medial frontal gyrus
has_obo_namespace: uberon
has_related_synonym: gyrus F2
has_related_synonym: gyrus frontalis medialis (Winters)
has_related_synonym: gyrus frontalis medius
has_related_synonym: gyrus frontalis secundus
has_related_synonym: medial frontal gyrus (Mai)
has_related_synonym: middle (medial) frontal gyrus
id: UBERON:0002702
in subset: uberon slim
from ESSO: true

cingulate sulcus
type: Class
subclass of: subarachnoid sulcus
definition: The cingulate sulcus is a sulcus (brain fold) on the medial wall of the cerebral cortex. The frontal and parietal lobes are separated by the cingulate sulcus from the cingulate gyrus. [WP,unvetted].
imported from: uberon.owl
has_broad_synonym: CGS
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Cingulate sulcus
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0228189
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/279350000
database_cross_reference: BAMS:cgs
database_cross_reference: BAMS:cms
database_cross_reference: BIRNLEX:1468
database_cross_reference: BM:Tel-Cx-CGS
database_cross_reference: DHBA:10615
database_cross_reference: FMA:83748
database_cross_reference: HBA:9364
database_cross_reference: UMLS:C0228189
alternative_term: calloso-marginal sulcus
alternative_term: callosomarginal fissure
alternative_term: callosomarginal sulcus
alternative_term: cingulate fissure
alternative_term: sulcus callosomarginalis
alternative_term: sulcus cingulatus
alternative_term: sulcus cinguli
has_obo_namespace: uberon
has_related_synonym: sulcus cinguli
id: UBERON:0002710
in subset: uberon slim
from ESSO: true

lateral sulcus
type: Class
subclass of: subarachnoid sulcus
definition: A sulcus that divides the frontal lobe and parietal lobe above from the temporal lobe below. It is in both hemispheres of the brain but is longer in the left hemisphere. The lateral sulcus is one of the earliest-developing sulci of the human brain. It first appears around the fourteenth gestational week[WP,modified].
imported from: uberon.owl
has_broad_synonym: LS
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Lateral sulcus
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0228187
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/369226003
database_cross_reference: BAMS:lf
database_cross_reference: BAMS:ls
database_cross_reference: BIRNLEX:1487
database_cross_reference: BM:Tel-Cx-LS
database_cross_reference: DHBA:10621
database_cross_reference: DHBA:12110
database_cross_reference: FMA:77801
database_cross_reference: HBA:9402
database_cross_reference: NCIT:C32615
database_cross_reference: UMLS:C0228187
alternative_term: Sylvian fissure
alternative_term: Sylvian sulcus
alternative_term: fissura lateralis
alternative_term: fissura lateralis cerebri
alternative_term: fissura lateralis cerebri (sylvii)
alternative_term: fissura transversa cerebri
alternative_term: fissure of Sylvius
alternative_term: lateral cerebral fissure
alternative_term: lateral cerebral sulcus
alternative_term: lateral fissure
alternative_term: lateral fissure of Sylvius
alternative_term: sulcus lateralis
alternative_term: sulcus lateralis cerebri
alternative_term: transverse cerebral fissure
has_obo_namespace: uberon
has_related_synonym: sulcus cerebri lateralis (Sylvii)
id: UBERON:0002721
in subset: uberon slim
from ESSO: true

entorhinal cortex
type: Class
subclass of: organ part
definition: Component of the temporal lobe on the mesial surface. The rostral and caudal boundaries of the entorhinal cortex are the rostral end of the collateral sulcus and the caudal end of the amygdala respectively. The medial boundary is the medial aspect of the temporal lobe and the lateral boundary is the collateral sulcus. (DK).
editor note: TODO - check area vs complex. MBA:909 this is part of the hippocampal formation via retrohippocampal region
imported from: uberon.owl
taxon_notes: In primates it is found on the medial surface of the temporal lobe, partially bounded ventrolaterally by the collateral sulcus in the human and by the rhinal sulcus in the macaque. It is subdivided on the basis of internal structure into eight parts in the human ( Insausti-2004 ),and seven parts in the macaque ( Paxinos-2009a ). In the rat and mouse it is divided into a lateral part of the entorhinal area and a medial part of the entorhinal area; the latter is further divided into dorsal and ventral zones to produce three subdivisions in the rodent ( Swanson-2004 )
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/15857433
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Entorhinal cortex
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0175196
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/369099007
database_cross_reference: BAMS:ENT
database_cross_reference: BAMS:Ent
database_cross_reference: BIRNLEX:1508
database_cross_reference: BM:Tel-Cx-ENT
database_cross_reference: BTO:0002650
database_cross_reference: DHBA:10317
database_cross_reference: DMBA:16102
database_cross_reference: EFO:0001920
database_cross_reference: EMAPA:35313
database_cross_reference: FMA:72356
database_cross_reference: GAID:636
database_cross_reference: MA:0003117
database_cross_reference: MBA:909
database_cross_reference: MESH:A08.186.211.577.710.225
database_cross_reference: NCIT:C97338
database_cross_reference: PBA:294022158
database_cross_reference: UMLS:C0175196
alternative_term: entorhinal area
has_obo_namespace: uberon
has_related_synonym: Brodmann's area 28
has_related_synonym: area entorhinalis (28,34)
has_related_synonym: area entorhinalis ventralis et dorsalis
has_related_synonym: cortex entorhinalis
has_related_synonym: entorhinal cortex
id: UBERON:0002728
in subset: efo slim
in subset: pheno slim
in subset: uberon slim
from pub med: true

inferior temporal gyrus
type: Class
subclass of: gyrus
definition: Component of the temporal lobe, lateral aspect. The rostral boundary is the rostral extent of the inferior temporal sulcus whereas the caudal boundary is designated as the temporo-occipital incisure on the cortical surface. The occipitotemporal sulcus is the medial boundary and the inferior temporal sulcus is the lateral boundary (Christine Fennema-Notestine).
imported from: uberon.owl
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Inferior temporal gyrus
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/279191005
database_cross_reference: BAMS:ITG
database_cross_reference: BIRNLEX:1577
database_cross_reference: BM:Tel-ITG
database_cross_reference: DHBA:12142
database_cross_reference: FMA:61907
database_cross_reference: HBA:4147
database_cross_reference: NCIT:C32791
database_cross_reference: ncithesaurus:Inferior_Temporal_Gyrus
alternative_term: gyrus temporalis inferior
alternative_term: lateral occipitotemporal gyrus (heimer-83)
has_obo_namespace: uberon
has_related_synonym: IT cortex
has_related_synonym: gyrus temporalis inferior
has_related_synonym: inferotemporal cortex
id: UBERON:0002751
in subset: uberon slim
from ESSO: true

superior temporal gyrus
type: Class
subclass of: gyrus
definition: Component of the temporal lobe, lateral aspect. The rostral boundary is the rostral extent of the ssuperior temporal sulcus. The caudal boundary is the cauday portion of the superior temporal gyrus (posterior to becoming continuous with the supramarginal gyrus). The medial boundary is the lateral fissure (and when present the supramarginal gyrus), and the lateral boundary is the superior temporal suclus (Christine Fennema-Notestine).
imported from: uberon.owl
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Superior temporal gyrus
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0152309
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/362345008
database_cross_reference: BAMS:STG
database_cross_reference: BIRNLEX:1648
database_cross_reference: BM:Tel-STG
database_cross_reference: DHBA:12140
database_cross_reference: EFO:0001944
database_cross_reference: FMA:61905
database_cross_reference: HBA:4133
database_cross_reference: NCIT:C33698
database_cross_reference: UMLS:C0152309
database_cross_reference: ncithesaurus:Superior_Temporal_Gyrus
alternative_term: gyrus temporalis superior
has_obo_namespace: uberon
has_related_synonym: gyrus temporalis superior
id: UBERON:0002769
in subset: efo slim
in subset: pheno slim
in subset: uberon slim
from ESSO: true

middle temporal gyrus
type: Class
subclass of: gyrus
definition: Component of the temporal lobe, lateral aspect. The rostral boundary is the rostral extent of the superior temporal sulcus whereas the caudal boundary is the temporo-occipital incisure on the cortical surface. The superior temporal sulcus is the medial boundary and the inferior temporal sulcus is the lateral boundary (Christine Fennema-Notestine).
imported from: uberon.owl
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Middle temporal gyrus
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0152310
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/279190006
database_cross_reference: BAMS:MTG
database_cross_reference: BIRNLEX:1653
database_cross_reference: DHBA:12141
database_cross_reference: EFO:0002466
database_cross_reference: FMA:61906
database_cross_reference: HBA:4140
database_cross_reference: NCIT:C33125
database_cross_reference: UMLS:C0152310
database_cross_reference: ncithesaurus:Middle_Temporal_Gyrus
alternative_term: gyrus temporalis medius
alternative_term: intermediate temporal gyrus
has_obo_namespace: uberon
has_related_synonym: inferior temporal gyrus (Seltzer)
has_related_synonym: medial temporal gyrus
has_related_synonym: middle (medial) temporal gyrus
id: UBERON:0002771
in subset: efo slim
in subset: uberon slim
from ESSO: true

parietal operculum
type: Class
subclass of: regional part of brain
definition: The parietal operculum, forming the superior bank of the sylvian fissure, as studied in the cat, contains the secondary somatosensory representation, 'S-II', and a second somatotopic representation (parietal ventral, or PV). Anatomically, primate S-II receives inputs from area 3 and area 1, and projects to PV and area 7. PV has projections to area 5 and premotor areas. [WP,unvetted].
imported from: uberon.owl
has_broad_synonym: PAO
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30269938
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Parietal operculum
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0228265
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1284612
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/362353000
database_cross_reference: BAMS:PaOp
database_cross_reference: BAMS:pao
database_cross_reference: BIRNLEX:4029
database_cross_reference: DHBA:13230
database_cross_reference: FMA:74889
database_cross_reference: UMLS:C0228265
database_cross_reference: UMLS:C1284612
alternative_term: operculum parietale
has_obo_namespace: uberon
id: UBERON:0002911
in subset: uberon slim
from pub med: true

marginal sulcus
type: Class
subclass of: subarachnoid sulcus
definition: The marginal sulcus is the portion of the cingulate sulcus adjacent to the paracentral lobule and the precuneus. It is sometimes known as the 'marginal part of the cingulate sulcus'. [WP,unvetted].
imported from: uberon.owl
has_broad_synonym: MS
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Marginal sulcus
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0259792
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/279351001
database_cross_reference: BIRNLEX:4030
database_cross_reference: FMA:83773
database_cross_reference: UMLS:C0259792
alternative_term: marginal branch of cingulate sulcus
alternative_term: marginal ramus of cingulate sulcus
alternative_term: ramus marginalis sulci cingulati
alternative_term: ramus marginalis sulci cinguli
alternative_term: sulcus marginalis
has_obo_namespace: uberon
has_related_synonym: pars marginalis sulci cinguli
has_related_synonym: ramus marginalis; sulcus marginalis
id: UBERON:0002912
in subset: uberon slim
from ESSO: true

intraparietal sulcus
type: Class
subclass of: sulcus of parietal lobe
definition: The intraparietal sulcus (IPS) is located on the lateral surface of the parietal lobe, and consists of an oblique and a horizontal portion. The IPS contains a series of functionally distinct subregions that have been intensively investigated using both single cell neurophysiology in primates and human functional neuroimaging. Its principal functions are related to perceptual-motor coordination (for directing eye movements and reaching) and visual attention. The IPS is also thought to play a role in other functions, including processing symbolic numerical information, visuospatial working memory and interpreting the intent of others. [WP,unvetted].
imported from: uberon.owl
has_broad_synonym: ITPS
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Intraparietal sulcus
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0228213
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1281069
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/279338006
database_cross_reference: BAMS:ips
database_cross_reference: BAMS:itps
database_cross_reference: BIRNLEX:4031
database_cross_reference: BM:Tel-Cx-IPS
database_cross_reference: BTO:0003787
database_cross_reference: DHBA:10620
database_cross_reference: FMA:83772
database_cross_reference: HBA:9372
database_cross_reference: NCIT:C32879
database_cross_reference: UMLS:C0228213
database_cross_reference: UMLS:C1281069
alternative_term: interparietal fissure
alternative_term: intraparietal fissure
alternative_term: sulcus interparietalis
has_obo_namespace: uberon
has_related_synonym: Turner sulcus
has_related_synonym: intraparietal sulcus of Turner
has_related_synonym: sulcus intraparietalis
id: UBERON:0002913
in subset: uberon slim
from article: true
from ESSO: true

postcentral sulcus of parietal lobe
type: Class
subclass of: sulcus of parietal lobe
definition: The postcentral sulcus of the parietal lobe lies parallel to, and behind, the central sulcus in the human brain. (A sulcus is one of the prominent grooves on the surface of the brain. ) The postcentral sulcus divides the postcentral gyrus from the remainder of the parietal lobe. [WP,unvetted].
imported from: uberon.owl
has_broad_synonym: POCS
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Postcentral sulcus
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0228212
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1281070
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/279339003
database_cross_reference: BAMS:pocs
database_cross_reference: BIRNLEX:4033
database_cross_reference: BM:Tel-Cx-PoCS
database_cross_reference: DHBA:10627
database_cross_reference: FMA:83774
database_cross_reference: HBA:9371
database_cross_reference: NCIT:C33347
database_cross_reference: UMLS:C0228212
database_cross_reference: UMLS:C1281070
alternative_term: postcentral fissure of cerebral hemisphere
alternative_term: postcentral fissure-1
alternative_term: postcentral sulcus
alternative_term: structure of postcentral sulcus
alternative_term: sulcus postcentralis
has_obo_namespace: uberon
has_related_synonym: sulcus postcentralis
id: UBERON:0002915
in subset: uberon slim
from ESSO: true

frontal operculum
type: Class
subclass of: regional part of brain
definition: Portion of frontal lobe that overlaps the insular cortex (adapted from Wikipedia)
imported from: uberon.owl
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0149547
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/362352005
database_cross_reference: BAMS:FOp
database_cross_reference: BAMS:fro
database_cross_reference: BIRNLEX:751
database_cross_reference: DHBA:12127
database_cross_reference: FMA:74886
database_cross_reference: HBA:4078
database_cross_reference: UMLS:C0149547
has_obo_namespace: uberon
has_related_synonym: nucleus ventralis oralis, pars medialis (Dewulf)
has_related_synonym: opercular region
has_related_synonym: operculum frontale
id: UBERON:0002947
from ESSO: true

cingulate cortex
type: Class
subclass of: regional part of brain
definition: The cingulate cortex is a part of the brain situated in the medial aspect of the cortex. It is extended from the corpus callosum below to the cingulate sulcus above, at least anteriorly. [WP,unvetted].
imported from: uberon.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/21403025
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30100562
database_cross_reference: Cingulate cortex
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0598179
database_cross_reference: BIRNLEX:934
database_cross_reference: BM:Tel-Cx-Cg
database_cross_reference: BTO:0003975
database_cross_reference: DHBA:10277
database_cross_reference: DMBA:16072
database_cross_reference: EFO:0000343
database_cross_reference: EMAPA:35242
database_cross_reference: MA:0000904
database_cross_reference: NCIT:C52713
database_cross_reference: UMLS:C0598179
alternative_term: cingulate neocortex
has_obo_namespace: uberon
has_related_synonym: gyrus cingulatus
has_related_synonym: gyrus cinguli
id: UBERON:0003027
in subset: efo slim
in subset: uberon slim
from ESSO: true

brain gray matter
type: Class
subclass of: gray matter
definition: A gray matter that is part of a brain [Automatically generated definition].
imported from: uberon.owl
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1707348
database_cross_reference: EMAPA:35184
database_cross_reference: MA:0000810
database_cross_reference: NCIT:C49333
database_cross_reference: UMLS:C1707348
alternative_term: brain grey matter
alternative_term: brain grey substance
alternative_term: gray matter of brain
alternative_term: grey matter of brain
alternative_term: grey substance of brain
has_obo_namespace: uberon
id: UBERON:0003528

hippocampal field
type: Class
subclass of: regional part of brain
definition: a part or parts of the hippocampus that have a particular function
imported from: uberon.owl
external_ontology_notes: do not include ABA:HIP
database_cross_reference: BAMS:HIP
database_cross_reference: BAMS:Hi/CA
database_cross_reference: EMAPA:32772
database_cross_reference: FMA:74041
database_cross_reference: MA:0002428
alternative_term: hippocampus subdivision
alternative_term: subdivision of hippocampus
has_obo_namespace: uberon
has_related_synonym: hippocampal region
has_related_synonym: hippocampus region
id: UBERON:0003876
in subset: non informative
in subset: pheno slim

brain ventricle/choroid plexus
type: Class
subclass of: multicellular anatomical structure
definition: The brain ventricles or their associated choroid plexuses
editor note: TODO - check relationship between CP and BV. If this is part of then this class should be obsoleted
editor note: TODO merge into BV
imported from: uberon.owl
has_obo_namespace: uberon
id: UBERON:0003947
in subset: pheno slim

interventricular foramen of CNS
type: Class
subclass of: anatomical conduit
definition: The paired channels that connect the lateral and third ventricles and allows cerebrospinal fluid produced in the lateral ventricles to flow into the third ventricles
imported from: uberon.owl
external_ontology_notes: it is not clear if the FMA class refers to CNS or heart ventricles
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Interventricular foramina (neural anatomy)
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0016520
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/279248006
database_cross_reference: BAMS:IVF
database_cross_reference: BAMS:ivf
database_cross_reference: DHBA:10608
database_cross_reference: EMAPA:36067
database_cross_reference: FMA:75351
database_cross_reference: MBA:124
database_cross_reference: NCIT:C32627
database_cross_reference: UMLS:C0016520
alternative_term: foramen Monroi
alternative_term: foramen interventriculare
alternative_term: interventricular foramen
alternative_term: interventricular foramina
has_obo_namespace: uberon
id: UBERON:0003993
in subset: pheno slim
from ESSO: true

brain ventricle
type: Class
subclass of: brain ventricle/choroid plexus
subclass of: ventricle of nervous system
definition: one of the system of communicating cavities in the brain that are continuous with the central canal of the spinal cord, that like it are derived from the medullary canal of the embryo, that are lined with an epithelial ependyma, and that contain a serous fluid
imported from: uberon.owl
external_definition: Organ cavity of the brain which consists of the lateral ventricles, the third and fourth ventricles and the cerebral aqueduct[BIRNLEX:1356].
external_ontology_notes: FMA draws the distinction between e.g. 'fourth ventricle' and 'cavity of fourth ventricle'. The latter is a cavity, and part of the former, which is a region. The superclass of 'fourth ventricle' is_a 'region of ventricular system of the brain'. We place this class here, although it is not equivalent to ventricles, as it includes ventricle bodies.
contributor: cmungall
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0007799
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/180929003
database_cross_reference: BIRNLEX:1356
database_cross_reference: BTO:0001442
database_cross_reference: EFO:0001914
database_cross_reference: EMAPA:32674
database_cross_reference: FMA:78447
database_cross_reference: HBA:9418
database_cross_reference: MA:0000818
database_cross_reference: MESH:D002552
database_cross_reference: NCIT:C12356
database_cross_reference: OpenCyc:Mx4rvmTY65wpEbGdrcN5Y29ycA
database_cross_reference: UMLS:C0007799
alternative_term: brain ventricles
alternative_term: cerebral ventricle
alternative_term: region of ventricular system of brain
has_obo_namespace: uberon
id: UBERON:0004086
in subset: efo slim
in subset: pheno slim

anatomical conduit
type: Class
subclass of: multicellular anatomical structure
definition: Any tube, opening or passage that connects two distinct anatomical spaces.
imported from: uberon.owl
external_ontology_notes: FMA has both conduit and conduit space. In EHDAA2 this is a surface feature
database_cross_reference: Foramen
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/346902003
database_cross_reference: AEO:0000080
database_cross_reference: EHDAA2:0003080
database_cross_reference: FMA:242873
has_narrow_synonym: foramen
has_narrow_synonym: foramina
has_obo_namespace: uberon
has_related_synonym: opening
has_related_synonym: ostia
has_related_synonym: ostium
id: UBERON:0004111

orbitofrontal cortex
type: Class
subclass of: frontal gyrus
definition: The region of the cerebral cortex covering the basal surface of the frontal lobes; this region normally controls emotion and decision making
imported from: uberon.owl
external_ontology_notes: this is a gyrus in FMA
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28928072
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Orbitofrontal cortex
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0152301
database_cross_reference: BIRNLEX:1049
database_cross_reference: DHBA:10194
database_cross_reference: EFO:0001990
database_cross_reference: FMA:242003
database_cross_reference: UMLS:C0152301
alternative_term: fronto-orbital cortex
alternative_term: orbital frontal cortex
alternative_term: orbito-frontal cortex
has_obo_namespace: uberon
has_related_synonym: Orbitofrontal Region
has_related_synonym: segment of cortex of frontal lobe
id: UBERON:0004167
in subset: efo slim
in subset: pheno slim
from ESSO: true
from pub med: true

septum pellucidum
type: Class
subclass of: cell layer
definition: A triangular double membrane, consisting of glial cells and fibers (Heimer, 1996) separating the anterior horns of the lateral ventricles of the brain. It is situated in the median plane and bounded by the corpus callosum and the body and columns of the fornix.
imported from: uberon.owl
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Septum pellucidum
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0036700
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/362313003
database_cross_reference: BAMS:SptP
database_cross_reference: BAMS:spt
database_cross_reference: BIRNLEX:1315
database_cross_reference: BTO:0003448
database_cross_reference: DHBA:12098
database_cross_reference: FMA:61844
database_cross_reference: MA:0002979
database_cross_reference: MESH:D012688
database_cross_reference: NCIT:C33536
database_cross_reference: UMLS:C0036700
alternative_term: septal pellucidum
alternative_term: septum pellucidum of telencephalic ventricle
alternative_term: supracommissural septum
has_obo_namespace: uberon
has_related_synonym: lateral septum
has_related_synonym: pellucidum
has_related_synonym: septum gliosum
has_related_synonym: septum lucidum
id: UBERON:0004714
in subset: pheno slim
from ESSO: true

Brodmann (1909) area 29
type: Class
subclass of: Brodmann area
definition: Brodmann area 29, also known as granular retrolimbic area 29 or granular retrosplenial cortex, is a cytoarchitecturally defined portion of the retrosplenial region of the cerebral cortex. In the human it is a narrow band located in the isthmus of cingulate gyrus. Cytoarchitecturally it is bounded internally by the ectosplenial area 26 and externally by the agranular retrolimbic area 30 (Brodmann-1909).
imported from: uberon.owl
external_definition: A cytoarchitecturally defined portion of the retrosplenial region of the cerebral cortex. In the human it is a narrow band located in the isthmus of cingulate gyrus. Cytoarchitecturally it is bounded internally by the ectosplenial area 26 and externally by the agranular retrolimbic area 30[BTO:0003978].
has_broad_synonym: B09-29
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Brodmann area 29
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272490
database_cross_reference: BIRNLEX:1763
database_cross_reference: BTO:0003978
database_cross_reference: FMA:68626
database_cross_reference: UMLS:C1272490
alternative_term: B09-29
alternative_term: Brodmann (1909) area 29
alternative_term: Brodmann area 29
alternative_term: Brodmann area 29, granular retrolimbic
alternative_term: Brodmann's area 29
alternative_term: area 29 of Brodmann
alternative_term: area 29 of Brodmann-1909
alternative_term: area retrolimbica granularis
has_obo_namespace: uberon
has_related_synonym: BA29
has_related_synonym: granular retrolimbic area 29
id: UBERON:0004717
from ESSO: true

Brodmann (1909) area 26
type: Class
subclass of: Brodmann area
definition: .
imported from: uberon.owl
external_definition: In the human this area is called ectosplenial area 26. It is a cytoarchitecturally defined portion of the retrosplenial region of the cerebral cortex. It is a narrow band located in the isthmus of cingulate gyrus adjacent to the fasciolar gyrus internally. It is bounded externally by the granular retrolimbic area 29[BTO:0003979].
has_broad_synonym: B09-26
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Brodmann area 26
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272489
database_cross_reference: BIRNLEX:1757
database_cross_reference: BTO:0003979
database_cross_reference: FMA:68623
database_cross_reference: UMLS:C1272489
alternative_term: B09-26
alternative_term: Brodmann (1909) area 26
alternative_term: Brodmann area 26
alternative_term: Brodmann area 26, ectosplenial
alternative_term: area 26 of Brodmann
alternative_term: area 26 of Brodmann-1909
alternative_term: area ectosplenialis
alternative_term: ectosplenial area
has_obo_namespace: uberon
has_related_synonym: BA26
has_related_synonym: area 26 of Brodmann (guenon)
has_related_synonym: brodmann's area 26
has_related_synonym: ectosplenial area 26
id: UBERON:0004718
from ESSO: true

organ component layer
type: Class
subclass of: organ part
definition: A part of a wall of an organ that forms a layer.
imported from: uberon.owl
database_cross_reference: FMA:82485
has_obo_namespace: uberon
id: UBERON:0004923
in subset: upper level

multi cell part structure
type: Class
subclass of: anatomical cluster
definition: A structure consisting of multiple cell components but which is not itself a cell and does not have (complete) cells as a part.
imported from: uberon.owl
external_ontology_notes: we go with the FMA classification rather than the CARO one. FMA def: 'Anatomical cluster which has as direct parts cell parts from two or more cells.'
database_cross_reference: AAO:0011000
database_cross_reference: CARO:0001000
database_cross_reference: FBbt:00007060
database_cross_reference: FMA:83115
alternative_term: multi-cell-component structure
alternative_term: multi-cell-part structure
has_obo_namespace: uberon
has_related_synonym: cell part cluster
id: UBERON:0005162
in subset: upper level

dorsal telencephalic commissure
type: Class
subclass of: commissure of telencephalon
definition: A fiber tracts that connect the dorsal region of the two cerebral hemispheres and span the longitudinal fissure, including the corpus callosum and hippocampal commissure[MP].
imported from: uberon.owl
database_cross_reference: EMAPA:37844
database_cross_reference: NLX:147892
alternative_term: dorsal commissure
has_obo_namespace: uberon
id: UBERON:0005340
in subset: pheno slim

ventricle of nervous system
type: Class
subclass of: organ component layer
definition: A layer in the central nervous system that lines system of communicating cavities in the brain and spinal cord.
imported from: uberon.owl
contributor: cmungall
database_cross_reference: EMAPA:35209
database_cross_reference: FMA:242770
alternative_term: ventricular layer
has_obo_namespace: uberon
has_related_synonym: region of wall of ventricular system of neuraxis
id: UBERON:0005358

cerebral hemisphere gray matter
type: Class
subclass of: gray matter of telencephalon
definition: A gray matter that is part of a cerebral hemisphere.
imported from: uberon.owl
external_ontology_notes: BTO may actually be a more generic structure; FMA may represent a more specific structure. Consider merging with gray matter of telencephalon
database_cross_reference: BTO:0000823
database_cross_reference: CALOHA:TS-2361
database_cross_reference: EMAPA:37477
database_cross_reference: FMA:61821
database_cross_reference: MA:0000944
alternative_term: cerebral gray matter
alternative_term: cerebral grey matter
alternative_term: cerebral hemisphere grey matter
has_obo_namespace: uberon
id: UBERON:0005401

zone of bone organ
type: Class
subclass of: zone of organ
imported from: uberon.owl
database_cross_reference: FMA:10483
alternative_term: bone organ zone
has_obo_namespace: uberon
id: UBERON:0005913

brain commissure
type: Class
subclass of: nervous system commissure
subclass of: tract of brain
definition: any of the nerve fiber tracts that span the longitudinal fissure between the cerebral and/or cerebellar hemispheres of the brain
imported from: uberon.owl
external_definition: any of the nerve fiber tracts that span the longitudinal fissure between the cerebral and/or cerebellar hemispheres of the brain[MP]
database_cross_reference: EMAPA:37446
has_obo_namespace: uberon
id: UBERON:0005970
in subset: pheno slim

inferior parietal cortex
type: Class
subclass of: organ part
definition: Component of the parietal lobe. The inferior parietal cortex label includes the inferior parietal gyrus and the angular gyrus and lies inferior to the superior parietal gyrus. The rostral and caudal boundaries were the supramarginal gyrus and the parieto-occipital incisure respectively. The medial and lateral boundaries were the superior parietal gyrus and the middle temporal gyrus respectively (Christine Fennema-Notestine).
imported from: uberon.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/21925841
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0152304
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/362336007
database_cross_reference: BIRNLEX:1194
database_cross_reference: DHBA:12134
database_cross_reference: EFO:0001951
database_cross_reference: FMA:77536
database_cross_reference: HBA:4103
database_cross_reference: UMLS:C0152304
alternative_term: inferior parietal cortex
alternative_term: inferior parietal lobule
has_obo_namespace: uberon
has_related_synonym: inferior parietal gyrus
has_related_synonym: inferior portion of parietal gyrus
has_related_synonym: lobulus parietalis inferior
has_related_synonym: subparietal district
has_related_synonym: subparietal lobule
id: UBERON:0006088
in subset: efo slim
from pub med: true

cuneus cortex
type: Class
subclass of: occipital gyrus
definition: Component of the occipital lobe. The rostral boundary was the first coronal slice above the calcarine sulcus where the cuneus cortex becomes visible whereas the caudal boundary was the last slice where the calcarine sulcus was visualized. The medial boundary was the most medial portion of the occipital and parietal cortices. The superio-lateral boundary was the parieto-occipital fissure whereas the inferolateral boundary was the pericalcarine cortex (Christine Fennema-Notestine).
imported from: uberon.owl
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Cuneus
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0152307
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/279199007
database_cross_reference: BAMS:Cun
database_cross_reference: BIRNLEX:1396
database_cross_reference: DHBA:12150
database_cross_reference: FMA:61903
database_cross_reference: HBA:4184
database_cross_reference: UMLS:C0152307
alternative_term: cuneate lobule
alternative_term: cuneus
alternative_term: cuneus cortex
alternative_term: cuneus gyrus
alternative_term: cuneus of hemisphere
has_obo_namespace: uberon
has_related_synonym: gyrus cuneus
id: UBERON:0006092
from ESSO: true

precuneus cortex
type: Class
subclass of: gyrus
definition: Component of the pareital lobe. The rostral boundary was the posterior extent of the paracentral lobule whereas the caudal boundary was the lingual gyrus. The medial and lateral boundaries were the parieto-occipital fissure and the superior parietal gyrus respectively (Christine Fennema-Notestine).
imported from: uberon.owl
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Precuneus
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0152306
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/279200005
database_cross_reference: BAMS:PCu
database_cross_reference: BAMS:PCun
database_cross_reference: BIRNLEX:1446
database_cross_reference: DHBA:12137
database_cross_reference: FMA:61900
database_cross_reference: HBA:4118
database_cross_reference: NCIT:C112399
database_cross_reference: UMLS:C0152306
alternative_term: precuneate lobule
alternative_term: precuneus
alternative_term: precuneus cortex
alternative_term: quadrate lobule
has_obo_namespace: uberon
has_related_synonym: medial area of the superior parietal cortex
has_related_synonym: praecuneus
id: UBERON:0006093
from ESSO: true

anterior transverse temporal area 41
type: Class
subclass of: Brodmann area
definition: A subdivision of the cytoarchitecturally defined temporal region of cerebral cortex. It occupies the anterior transverse temporal gyrus (H) in the bank of the lateral sulcus on the dorsal surface of the temporal lobe. Cytoarchitecturally it is bounded medially by the parainsular area 52 (H) and laterally by the posterior transverse temporal area 42 (H) (Brodmann-1909). Adapted from Brain Info
imported from: uberon.owl
has_alternative_id: UBERON:0013574
has_broad_synonym: B09-41
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272502
database_cross_reference: BIRNLEX:1582
database_cross_reference: BIRNLEX:1774
database_cross_reference: FMA:68638
database_cross_reference: UMLS:C1272502
alternative_term: B09-41
alternative_term: BA41
alternative_term: Brodmann (1909) area 41
alternative_term: Brodmann area 41
alternative_term: Brodmann area 41, anterior transverse temporal
alternative_term: Brodmann's area 41
alternative_term: anterior transverse temporal area 41
alternative_term: anterior transverse termporal area 41
alternative_term: area 41 of Brodmann
alternative_term: area 41 of Brodmann-1909
alternative_term: area temporalis transversa anterior
alternative_term: principle auditory receptive areas
has_obo_namespace: uberon
id: UBERON:0006095
from ESSO: true

posterior transverse temporal area 42
type: Class
subclass of: Brodmann area
definition: A subdivision of the cytoarchitecturally defined temporal region of cerebral cortex. It is located in the bank of the lateral sulcus on the dorsal surface of the temporal lobe. Cytoarchitecturally it is bounded medially by the anterior transverse temporal area 41(H) and laterally by the superior temporal area 22 (Brodmann-1909). Adapted from Brain Info
imported from: uberon.owl
has_alternative_id: UBERON:0013575
has_broad_synonym: B09-42
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272506
database_cross_reference: BIRNLEX:1589
database_cross_reference: BIRNLEX:1775
database_cross_reference: FMA:236867
database_cross_reference: FMA:68639
database_cross_reference: UMLS:C1272506
alternative_term: B09-42
alternative_term: BA42
alternative_term: Brodmann (1909) area 42
alternative_term: Brodmann area 42
alternative_term: Brodmann area 42, posterior transverse temporal
alternative_term: Brodmann's area 42
alternative_term: area 42 of Brodmann
alternative_term: area 42 of Brodmann-1909
alternative_term: area temporalis transversa posterior
alternative_term: auditory association area
alternative_term: posterior transverse temporal area 42
alternative_term: posterior transverse termporal area 42
has_obo_namespace: uberon
has_related_synonym: auditory association cortex
id: UBERON:0006096
from ESSO: true

Brodmann (1909) area 1
type: Class
subclass of: Brodmann area
definition: .
imported from: uberon.owl
has_broad_synonym: B09-1
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Brodmann area 1
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272523
database_cross_reference: BIRNLEX:1732
database_cross_reference: FMA:68597
database_cross_reference: UMLS:C1272523
has definition: The term area 1 of Brodmann (human) refers to a subdivision of the cytoarchitecturally defined postcentral region of cerebral cortex. In the human it is located in the postcentral gyrus where it is bounded cytoarchitecturally by the area 3 of Brodmann (human) and the area 2 of Brodmann (human) and, at its ventral tip, by the area 43 of Brodmann (human) ( Brodmann-1909 ).
alternative_term: B09-1
alternative_term: BA1
alternative_term: Brodmann (1909) area 1
alternative_term: Brodmann area 1
alternative_term: Brodmann's area 1
alternative_term: area 1 of Brodmann
alternative_term: area 1 of Brodmann-1909
alternative_term: area postcentralis intermedia
alternative_term: intermediate postcentral
alternative_term: intermediate postcentral area
has_obo_namespace: uberon
has_related_synonym: area 1 of Brodmann (guenon)
id: UBERON:0006099
from ESSO: true

Axiom
annotated source: Brodmann (1909) area 1
annotated property: hasDefinition
annotated target: The term area 1 of Brodmann (human) refers to a subdivision of the cytoarchitecturally defined postcentral region of cerebral cortex. In the human it is located in the postcentral gyrus where it is bounded cytoarchitecturally by the area 3 of Brodmann (human) and the area 2 of Brodmann (human) and, at its ventral tip, by the area 43 of Brodmann (human) ( Brodmann-1909 ).

Brodmann (1909) area 3
type: Class
subclass of: Brodmann area
definition: .
imported from: uberon.owl
has_broad_synonym: B09-3
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Brodmann area 3
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272525
database_cross_reference: BIRNLEX:1734
database_cross_reference: FMA:68599
database_cross_reference: UMLS:C1272525
has definition: The term area 3 of Brodmann (human) refers to a subdivision of the cytoarchitecturally defined postcentral region of cerebral cortex. In the human it is located primarily in the rostral portion of the postcentral gyrus including the caudal bank of the central sulcus. At either end of the sulcus it can extend beyond the depth of the sulcus into the precentral gyrus. Cytoarchitecturally it is bounded rostrally by the area 4 of Brodmann (human) and caudally by the area 1 of Brodmann (human) ( Brodmann-1909 ).
alternative_term: B09-3
alternative_term: BA3
alternative_term: Brodmann (1909) area 3
alternative_term: Brodmann area 3
alternative_term: Brodmann's area 3
alternative_term: area 3 of Brodmann
alternative_term: area 3 of Brodmann-1909
alternative_term: area postcentralis oralis
alternative_term: rostral postcentral
alternative_term: rostral postcentral area
has_obo_namespace: uberon
has_related_synonym: area 3 of Brodmann (guenon)
id: UBERON:0006100
from ESSO: true

Axiom
annotated source: Brodmann (1909) area 3
annotated property: hasDefinition
annotated target: The term area 3 of Brodmann (human) refers to a subdivision of the cytoarchitecturally defined postcentral region of cerebral cortex. In the human it is located primarily in the rostral portion of the postcentral gyrus including the caudal bank of the central sulcus. At either end of the sulcus it can extend beyond the depth of the sulcus into the precentral gyrus. Cytoarchitecturally it is bounded rostrally by the area 4 of Brodmann (human) and caudally by the area 1 of Brodmann (human) ( Brodmann-1909 ).

Brodmann (1909) area 24
type: Class
subclass of: Brodmann area
definition: .
imported from: uberon.owl
has_broad_synonym: B09-24
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Brodmann area 24
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272542
database_cross_reference: BAMS:ACA
database_cross_reference: BIRNLEX:1755
database_cross_reference: FMA:68621
database_cross_reference: MBA:31
database_cross_reference: UMLS:C1272542
has definition: The term area 24 of Brodmann (human) refers to a subdivision of the cytoarchitecturally defined cingulate region of cerebral cortex. In the human it occupies most of the anterior cingulate gyrus in an arc around the genu of the corpus callosum. Its outer border corresponds approximately to the cingulate sulcus. Cytoarchitecturally it is bounded internally by area 33 of Brodmann externally by area 32 of Brodmann (human), and caudally by area 23 of Brodmann (human) and the area 31 of Brodmann (human) ( Brodmann-1909 ).
alternative_term: B09-24
alternative_term: BA24
alternative_term: Brodmann (1909) area 24
alternative_term: Brodmann area 24
alternative_term: area 24 of Brodmann
alternative_term: area 24 of Brodmann-1909
alternative_term: area cingularis anterior ventralis
alternative_term: ventral anterior cingulate
has_obo_namespace: uberon
has_related_synonym: agranular cingulate area
has_related_synonym: anterior cingulate area
has_related_synonym: area 24 of Brodmann-1905 (guenon)
has_related_synonym: brodmann's area 24
has_related_synonym: gyrus limbicus anterior
id: UBERON:0006101
from ESSO: true

Axiom
annotated source: Brodmann (1909) area 24
annotated property: hasDefinition
annotated target: The term area 24 of Brodmann (human) refers to a subdivision of the cytoarchitecturally defined cingulate region of cerebral cortex. In the human it occupies most of the anterior cingulate gyrus in an arc around the genu of the corpus callosum. Its outer border corresponds approximately to the cingulate sulcus. Cytoarchitecturally it is bounded internally by area 33 of Brodmann externally by area 32 of Brodmann (human), and caudally by area 23 of Brodmann (human) and the area 31 of Brodmann (human) ( Brodmann-1909 ).

Brodmann (1909) area 35
type: Class
subclass of: Brodmann area
definition: Brodmann area 35, together with Brodmann area 36, is most frequently referred to as perirhinal cortex.
imported from: uberon.owl
taxon_notes: Brodmann found a cytoarchitecturally homologous area in the monkey (Cercopithecus), but it was so weakly developed that he omitted it from the cortical map of that species (Brodmann-1909).
has_broad_synonym: B09-35
database_cross_reference: Brodmann area 35
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272496
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/384790006
database_cross_reference: BIRNLEX:1768
database_cross_reference: BTO:0004356
database_cross_reference: FMA:68632
database_cross_reference: UMLS:C1272496
alternative_term: B09-35
alternative_term: BA35
alternative_term: Brodmann (1909) area 35
alternative_term: Brodmann area 35
alternative_term: Brodmann area 35, perirhinal
alternative_term: Brodmann's area 35
alternative_term: area 35 of Brodmann
alternative_term: area 35 of Brodmann-1909
alternative_term: area perirhinalis
alternative_term: perirhinal area 35
has_obo_namespace: uberon
id: UBERON:0006102
from ESSO: true

Brodmann (1909) area 36
type: Class
subclass of: Brodmann area
definition: Ectorhinal area 36 is a subdivision of the cytoarchitecturally defined temporal region of cerebral cortex. With its medial boundary corresponding approximately to the rhinal sulcus it is located primarily in the fusiform gyrus. Cytoarchitecturally it is bounded laterally and caudally by the inferior temporal area 20, medially by the perirhinal area 35 and rostrally by the temporopolar area 38 (H) (Brodmann-1909). Together with Brodmann area 35, it comprises the perirhinal cortex.
imported from: uberon.owl
has_broad_synonym: B09-36
database_cross_reference: Brodmann area 36
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272497
database_cross_reference: BIRNLEX:1769
database_cross_reference: BTO:0004357
database_cross_reference: DMBA:16086
database_cross_reference: FMA:68633
database_cross_reference: UMLS:C1272497
alternative_term: B09-36
alternative_term: BA36
alternative_term: Brodmann (1909) area 36
alternative_term: Brodmann area 36
alternative_term: area 36 of Brodmann
alternative_term: area 36 of Brodmann-1909
alternative_term: area ectorhinalis
alternative_term: ectorhinal
alternative_term: ectorhinal area 36
has_obo_namespace: uberon
id: UBERON:0006104
from ESSO: true

Brodmann (1909) area 5
type: Class
subclass of: Brodmann area
definition: Brodmann area 5 is one of Brodmann's cytologically defined regions of the brain. It is involved in somatosensory processing and association.
imported from: uberon.owl
has_broad_synonym: B09-5
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Brodmann area 5
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272527
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/384764008
database_cross_reference: BIRNLEX:1736
database_cross_reference: FMA:68601
database_cross_reference: UMLS:C1272527
alternative_term: B09-5
alternative_term: BA5
alternative_term: Brodmann (1909) area 5
alternative_term: Brodmann area 5
alternative_term: Brodmann area 5, preparietal
alternative_term: area 5 of Brodmann-1909
alternative_term: area praeparietalis
alternative_term: preparietal area 5
has_obo_namespace: uberon
has_related_synonym: area 5 of Brodmann
has_related_synonym: area 5 of Brodmann (guenon)
has_related_synonym: brodmann's area 5
has_related_synonym: preparietal area
has_related_synonym: preparietal area 5
has_related_synonym: secondary somatosensory cortex
id: UBERON:0006471
from ESSO: true

Brodmann (1909) area 6
type: Class
subclass of: Brodmann area
definition: Brodmann area 6, or BA6, is part of the frontal cortex in the human brain. Situated just anterior to the primary motor cortex, it is composed of the premotor cortex and, medially, the supplementary motor area, or SMA. This large area of the frontal cortex is believed to play a role in the planning of complex, coordinated movements. Brodmann area 6 is also called agranular frontal area 6 in humans because it lacks an internal granular cortical layer (layer IV). It is a subdivision of the cytoarchitecturally defined precentral region of cerebral cortex. In the human brain, it is located on the portions of the precentral gyrus that are not occupied by the gigantopyramidal area 4; furthermore, BA6 extends onto the caudal portions of the superior frontal and middle frontal gyri. It extends from the cingulate sulcus on the medial aspect of the hemisphere to the lateral sulcus on the lateral aspect. It is bounded rostrally by the granular frontal region and caudally by the gigantopyramidal area 4 (Brodmann, 1909).
imported from: uberon.owl
has_broad_synonym: B09-6
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Brodmann area 6
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272528
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/384765009
database_cross_reference: BIRNLEX:1737
database_cross_reference: FMA:68602
database_cross_reference: UMLS:C1272528
alternative_term: B09-6
alternative_term: BA6
alternative_term: Brodmann (1909) area 6
alternative_term: Brodmann area 6
alternative_term: Brodmann area 6, agranular frontal
alternative_term: agranular frontal area 6
alternative_term: area 6 of Brodmann
alternative_term: area 6 of Brodmann-1909
alternative_term: area frontalis agranularis
alternative_term: frontal belt
has_obo_namespace: uberon
has_related_synonym: agranular frontal area
has_related_synonym: agranular frontal area 6
has_related_synonym: area 6 of Brodmann (guenon)
has_related_synonym: brodmann's area 6
id: UBERON:0006472
from ESSO: true

Brodmann (1909) area 18
type: Class
subclass of: Brodmann area
definition: .
imported from: uberon.owl
has_broad_synonym: B09-18
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Brodmann area 18
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272536
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/384773000
database_cross_reference: BIRNLEX:1749
database_cross_reference: DHBA:10271
database_cross_reference: FMA:68615
database_cross_reference: PBA:10039
database_cross_reference: UMLS:C1272536
has definition: The term area 18 of Brodmann (human) refers to a subdivision of the cytoarchitecturally defined occipital region of cerebral cortex. In the human it is located in parts of the cuneus, the lingual gyrus and the middle occipital gyrus of the occipital lobe. Cytoarchitecturally it is bounded on one side by the area 17 of Brodmann (human), from which it is distinguished by absence of a band of Gennari, and on the other by the area 19 of Brodmann (human) ( Brodmann-1909 ).
alternative_term: B09-18
alternative_term: BA18
alternative_term: Brodmann (1909) area 18
alternative_term: Brodmann area 18
alternative_term: Brodmann area 18, parastriate
alternative_term: Brodmann's area 18
alternative_term: area 18 of Brodmann
alternative_term: area 18 of Brodmann-1909
alternative_term: area parastriata
alternative_term: parastriate area 18
alternative_term: secondary visual area
alternative_term: visual area II
has_obo_namespace: uberon
has_related_synonym: V2
has_related_synonym: area 18 of Brodmann (guenon)
has_related_synonym: area occipitalis
has_related_synonym: occipital area
has_related_synonym: visual area two
id: UBERON:0006473
from ESSO: true

Axiom
annotated source: Brodmann (1909) area 18
annotated property: hasDefinition
annotated target: The term area 18 of Brodmann (human) refers to a subdivision of the cytoarchitecturally defined occipital region of cerebral cortex. In the human it is located in parts of the cuneus, the lingual gyrus and the middle occipital gyrus of the occipital lobe. Cytoarchitecturally it is bounded on one side by the area 17 of Brodmann (human), from which it is distinguished by absence of a band of Gennari, and on the other by the area 19 of Brodmann (human) ( Brodmann-1909 ).

Brodmann (1909) area 30
type: Class
subclass of: Brodmann area
definition: Brodmann area 30, also known as agranular retrolimbic area 30, is a subdivision of the cytoarchitecturally defined retrosplenial region of the cerebral cortex. In the human it is located in the isthmus of cingulate gyrus. Cytoarchitecturally it is bounded internally by the granular retrolimbic area 29, dorsally by the ventral posterior cingulate area 23 and ventrolaterally by the ectorhinal area 36 (Brodmann-1909).
imported from: uberon.owl
has_broad_synonym: B09-30
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Brodmann area 30
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272491
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/384784007
database_cross_reference: BIRNLEX:1764
database_cross_reference: FMA:68627
database_cross_reference: UMLS:C1272491
alternative_term: B09-30
alternative_term: BA30
alternative_term: Brodmann (1909) area 30
alternative_term: Brodmann area 30
alternative_term: Brodmann area 30, agranular retrolimbic
alternative_term: Brodmann's area 30
alternative_term: agranular retrolimbic area 30
alternative_term: area 30 of Brodmann
alternative_term: area 30 of Brodmann-1909
alternative_term: area retrolimbica agranularis
alternative_term: area retrosplenialis agranularis
has_obo_namespace: uberon
id: UBERON:0006474
from ESSO: true

Brodmann (1909) area 31
type: Class
subclass of: Brodmann area
definition: Brodmann area 31, also known as dorsal posterior cingulate area 31, is a subdivision of the cytoarchitecturally defined cingulate region of the cerebral cortex. In the human it occupies portions of the posterior cingulate gyrus and medial aspect of the parietal lobe. Approximate boundaries are the cingulate sulcus dorsally and the parieto-occipital sulcus caudally. It partially surrounds the subparietal sulcus, the ventral continuation of the cingulate sulcus in the parietal lobe. Cytoarchitecturally it is bounded rostrally by the ventral anterior cingulate area 24, ventrally by the ventral posterior cingulate area 23, dorsally by the gigantopyramidal area 4 and preparietal area 5 and caudally by the superior parietal area 7 (H) (Brodmann-1909).
imported from: uberon.owl
has_broad_synonym: B09-31
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Brodmann area 31
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272492
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/384785008
database_cross_reference: BIRNLEX:1765
database_cross_reference: FMA:68628
database_cross_reference: UMLS:C1272492
alternative_term: B09-31
alternative_term: BA31
alternative_term: Brodmann (1909) area 31
alternative_term: Brodmann area 31
alternative_term: Brodmann area 31, dorsal posterior cingulate
alternative_term: Brodmann's area 31
alternative_term: area 31 of Brodmann
alternative_term: area 31 of Brodmann-1909
alternative_term: area cingularis posterior dorsalis
alternative_term: cinguloparietal transition area
alternative_term: dorsal posterior cingulate area 31
has_obo_namespace: uberon
id: UBERON:0006475
from ESSO: true

Brodmann (1909) area 33
type: Class
subclass of: Brodmann area
definition: Brodmann area 33, also known as pregenual area 33, is a subdivision of the cytoarchitecturally defined cingulate region of cerebral cortex. It is a narrow band located in the anterior cingulate gyrus adjacent to the supracallosal gyrus in the depth of the callosal sulcus, near the genu of the corpus callosum. Cytoarchitecturally it is bounded by the ventral anterior cingulate area 24 and the supracallosal gyrus (Brodmann-1909).
imported from: uberon.owl
has_broad_synonym: B09-33
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Brodmann area 33
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272494
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/384788005
database_cross_reference: BIRNLEX:1766
database_cross_reference: FMA:68630
database_cross_reference: UMLS:C1272494
alternative_term: B09-33
alternative_term: BA33
alternative_term: Brodmann (1909) area 33
alternative_term: Brodmann area 33
alternative_term: Brodmann area 33, pregenual
alternative_term: Brodmann's area 33
alternative_term: area 33 of Brodmann
alternative_term: area 33 of Brodmann-1909
alternative_term: area praegenualis
alternative_term: pregenual area 33
has_obo_namespace: uberon
id: UBERON:0006476
from ESSO: true

Brodmann (1909) area 34
type: Class
subclass of: Brodmann area
definition: Brodmann area 34 is a part of the brain. It has been described as part of the entorhinal area. It has been described as part of the superior temporal gyrus.
imported from: uberon.owl
has_broad_synonym: B09-34
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Brodmann area 34
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272495
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/384789002
database_cross_reference: BIRNLEX:1767
database_cross_reference: FMA:68631
database_cross_reference: UMLS:C1272495
alternative_term: B09-34
alternative_term: BA34
alternative_term: Brodmann (1909) area 34
alternative_term: Brodmann area 34
alternative_term: Brodmann area 34, dorsal entorhinal
alternative_term: area 34 of Brodmann
alternative_term: area 34 of Brodmann-1909
alternative_term: area entorhinalis dorsalis
alternative_term: dorsal entorhinal area 34
has_obo_namespace: uberon
id: UBERON:0006477
from ESSO: true

Brodmann (1909) area 37
type: Class
subclass of: Brodmann area
definition: Brodmann area 37, or BA37, is part of the temporal cortex in the human brain. This area is known as occipitotemporal area 37 (H). It is a subdivision of the cytoarchitecturally defined temporal region of cerebral cortex. It is located primarily in the caudal portions of the fusiform gyrus and inferior temporal gyrus on the mediobasal and lateral surfaces at the caudal extreme of the temporal lobe. Cytoarchitecturally it is bounded caudally by the peristriate Brodmann area 19, rostrally by the inferior temporal area 20 and middle temporal area 21 and dorsally on the lateral aspect of the hemisphere by the angular area 39 (H) (Brodmann-1909).
imported from: uberon.owl
has_broad_synonym: B09-37
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Brodmann area 37
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272498
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/384792003
database_cross_reference: BIRNLEX:1770
database_cross_reference: FMA:68634
database_cross_reference: UMLS:C1272498
alternative_term: B09-37
alternative_term: BA37
alternative_term: Brodmann (1909) area 37
alternative_term: Brodmann area 37
alternative_term: Brodmann area 37, occipitotemporal
alternative_term: area 37 0f brodmann
alternative_term: area 37 of Brodmann-1909
alternative_term: area occipitotemporalis
alternative_term: occipitotemporal area 37
has_obo_namespace: uberon
id: UBERON:0006478
from ESSO: true

Brodmann (1909) area 38
type: Class
subclass of: Brodmann area
definition: Brodmann area 38, also BA38 or temporopolar area 38 (H), is part of the temporal cortex in the human brain. BA 38 is at the anterior end of the temporal lobe, known as the temporal pole. BA38 is a subdivision of the cytoarchitecturally defined temporal region of cerebral cortex. It is located primarily in the most rostral portions of the superior temporal gyrus and the middle temporal gyrus. Cytoarchitecturally it is bounded caudally by the inferior temporal area 20, the middle temporal area 21, the superior temporal area 22 and the ectorhinal area 36 (Brodmann-1909). Cytoarchitectonic and chemoarchitectonic studies find that it contains at least seven subareas, one of which, TG, is unique to humans. 'The functional significance of this area TG is not known, but it may bind complex, highly processed perceptual inputs to visceral emotional responses.' This area is among the earliest affected by Alzheimer's disease and the earliest involved at the start of temporal lobe seizures. [
imported from: uberon.owl
has_broad_synonym: B09-38
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Brodmann area 38
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272499
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/384793008
database_cross_reference: BIRNLEX:1771
database_cross_reference: FMA:68635
database_cross_reference: UMLS:C1272499
alternative_term: B09-38
alternative_term: BA38
alternative_term: Brodmann (1909) area 38
alternative_term: Brodmann area 38
alternative_term: Brodmann area 38, temporopolar
alternative_term: area 38 of Brodmann
alternative_term: area 38 of Brodmann-1909
alternative_term: area temporopolaris
alternative_term: temporopolar area 38
has_obo_namespace: uberon
id: UBERON:0006479
from ESSO: true

Brodmann (1909) area 39
type: Class
subclass of: Brodmann area
definition: .
imported from: uberon.owl
has_broad_synonym: B09-39
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Brodmann area 39
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272500
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/384794002
database_cross_reference: BIRNLEX:1772
database_cross_reference: FMA:68636
database_cross_reference: UMLS:C1272500
has definition: The term area 39 of Brodmann refers to a subdivision of the cytoarchitecturally defined parietal region of cerebral cortex in the human. It corresponds to the angular gyrus surrounding the caudal tip of the superior temporal sulcus. Dorsally it is bounded approximately by the intraparietal sulcus. Cytoarchitecturally it is bounded rostrally by the area 40 of Brodmann (human), dorsally and caudally by the area 19 of Brodmann (human), and ventrally by the area 37 of Brodmann (human) ( Brodmann-1909 ).
alternative_term: B09-39
alternative_term: BA39
alternative_term: Brodmann (1909) area 39
alternative_term: Brodmann area 39
alternative_term: Brodmann area 39, angular
alternative_term: angular area 39
alternative_term: area 39 of Brodmann
alternative_term: area 39 of Brodmann-1909
alternative_term: area angularis
has_obo_namespace: uberon
id: UBERON:0006480
from ESSO: true

Axiom
annotated source: Brodmann (1909) area 39
annotated property: hasDefinition
annotated target: The term area 39 of Brodmann refers to a subdivision of the cytoarchitecturally defined parietal region of cerebral cortex in the human. It corresponds to the angular gyrus surrounding the caudal tip of the superior temporal sulcus. Dorsally it is bounded approximately by the intraparietal sulcus. Cytoarchitecturally it is bounded rostrally by the area 40 of Brodmann (human), dorsally and caudally by the area 19 of Brodmann (human), and ventrally by the area 37 of Brodmann (human) ( Brodmann-1909 ).

Brodmann (1909) area 44
type: Class
subclass of: Brodmann area
definition: Brodmann area 44, or BA44, is part of the frontal cortex in the human brain. Situated just anterior to premotor cortex and on the lateral surface, inferior to BA9. This area is also known as pars opercularis (of the inferior frontal gyrus), and it refers to a subdivision of the cytoarchitecturally defined frontal region of cerebral cortex. In the human it corresponds approximately to the opercular part of inferior frontal gyrus (H). Thus, it is bounded caudally by the inferior precentral sulcus (H) and rostrally by the anterior ascending limb of lateral sulcus (H). It surrounds the diagonal sulcus (H). In the depth of the lateral sulcus it borders on the insula. Cytoarchitectonically it is bounded caudally and dorsally by the agranular frontal area 6, dorsally by the granular frontal area 9 and rostrally by the triangular area 45 (Brodmann-1909).
imported from: uberon.owl
has_broad_synonym: B09-44
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Brodmann area 44
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272509
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/384803008
database_cross_reference: BIRNLEX:1776
database_cross_reference: FMA:68641
database_cross_reference: UMLS:C1272509
alternative_term: B09-44
alternative_term: BA44
alternative_term: Brodmann (1909) area 44
alternative_term: Brodmann area 44
alternative_term: Brodmann area 44, opercular
alternative_term: area 44 of Brodmann
alternative_term: area 44 of Brodmann-1909
alternative_term: area opercularis
alternative_term: opercular area 44
has_obo_namespace: uberon
id: UBERON:0006481
from ESSO: true

Brodmann (1909) area 45
type: Class
subclass of: Brodmann area
definition: Part of the cytoarchitecturally defined frontal region of cerebral cortex. In the human, it occupies the triangular part of the inferior frontal gyrus (human) and, surrounding the anterior horizontal limb of the lateral sulcus (human), a portion of the orbital part of the inferior frontal gyrus (human). Bounded caudally by the anterior ascending limb of the lateral sulcus (human), it borders on the insula in the depth of the lateral sulcus. Cytoarchitectonically it is bounded caudally by the opercular area 44, rostrodorsally by the area 46 of Brodmann (human) and ventrally by the area 47 of Brodmann (human) (Brodmann-1909) (Adapted from Brain Info)
imported from: uberon.owl
external_definition: Brodmann area 45 (BA45), is part of the frontal cortex in the human brain. Situated on the lateral surface, inferior to BA9 and adjacent to BA46. This area is also known as pars triangular (of the inferior frontal gyrus). In the human, it occupies the triangular part of inferior frontal gyrus (H) and, surrounding the anterior horizontal limb of lateral sulcus (H), a portion of the orbital part of inferior frontal gyrus (H). Bounded caudally by the anterior ascending limb of lateral sulcus (H), it borders on the insula in the depth of the lateral sulcus. In terms of cytoarchitecture, it is bounded caudally by the opercular area 44 (BA44), rostrodorsally by the middle frontal area 46 (BA46), and ventrally by the orbital area 47 (BA47) (Brodmann-1909)[Wikipedia:Brodmann_area_45].
has_broad_synonym: B09-45
has_broad_synonym: BA45
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Brodmann area 45
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272511
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/384805001
database_cross_reference: BIRNLEX:1777
database_cross_reference: FMA:68642
database_cross_reference: UMLS:C1272511
alternative_term: B09-45
alternative_term: BA45
alternative_term: Brodmann (1909) area 45
alternative_term: Brodmann area 45
alternative_term: Brodmann area 45, triangular
alternative_term: area 45 of Brodmann
alternative_term: area 45 of Brodmann-1909
alternative_term: area triangularis
alternative_term: triangular area 45
has_obo_namespace: uberon
id: UBERON:0006482
from ESSO: true

Brodmann (1909) area 46
type: Class
subclass of: Brodmann area
definition: Brodmann area 46, or BA46, is part of the frontal cortex in the human brain. It is between BA10 and BA45. BA46 is known as middle frontal area 46. In the human it occupies approximately the middle third of the middle frontal gyrus and the most rostral portion of the inferior frontal gyrus. Brodmann area 46 roughly corresponds with the dorsolateral prefrontal cortex (DLPFC), although the borders of area 46 are based on cytoarchitecture rather than function. The DLPFC also encompasses part of granular frontal area 9, directly adjacent on the dorsal surface of the cortex. Cytoarchitecturally, BA46 is bounded dorsally by the granular frontal area 9, rostroventrally by the frontopolar area 10 and caudally by the triangular area 45 (Brodmann-1909). There is some discrepancy between the extent of BA8 (Brodmann-1905) and the same area as described by Walker (1940)
imported from: uberon.owl
has_broad_synonym: B09-46
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Brodmann area 46
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272512
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/384806000
database_cross_reference: BIRNLEX:1778
database_cross_reference: FMA:68643
database_cross_reference: UMLS:C1272512
alternative_term: B09-46
alternative_term: BA46
alternative_term: Brodmann (1909) area 46
alternative_term: Brodmann area 46
alternative_term: Brodmann area 46, middle frontal
alternative_term: area 46 of Brodmann
alternative_term: area 46 of Brodmann-1909
alternative_term: area frontalis media
alternative_term: middle frontal area 46
has_obo_namespace: uberon
has_related_synonym: area 46
has_related_synonym: middle frontal area 46
id: UBERON:0006483
from ESSO: true

Brodmann (1909) area 47
type: Class
subclass of: Brodmann area
definition: Brodmann area 47, or BA47, is part of the frontal cortex in the human brain. Curving from the lateral surface of the frontal lobe into the ventral (orbital) frontal cortex. It is below areas BA10 and BA45, and beside BA11. This area is also known as orbital area 47. In the human, on the orbital surface it surrounds the caudal portion of the orbital sulcus (H) from which it extends laterally into the orbital part of inferior frontal gyrus (H). Cytoarchitectonically it is bounded caudally by the triangular area 45, medially by the prefrontal area 11 of Brodmann-1909, and rostrally by the frontopolar area 10 (Brodmann-1909). It incorporates the region that Brodmann identified as 'Area 12' in the monkey, and therefore, following the suggestion of Michael Petrides, some contemporary neuroscientists refer to the region as 'BA47/12. ' BA47 has been implicated in the processing of syntax in spoken and signed languages, and more recently in musical syntax.
imported from: uberon.owl
has_broad_synonym: B09-47
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Brodmann area 47
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272513
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/384807009
database_cross_reference: BIRNLEX:1779
database_cross_reference: FMA:68644
database_cross_reference: UMLS:C1272513
alternative_term: B09-47
alternative_term: BA47
alternative_term: Brodmann (1909) area 47
alternative_term: Brodmann area 47
alternative_term: Brodmann area 47, orbital
alternative_term: area 47 of Brodmann
alternative_term: area 47 of Brodmann-1909
alternative_term: area orbitalis
alternative_term: orbital area 47
has_obo_namespace: uberon
id: UBERON:0006484
from ESSO: true

visual processing part of nervous system
type: Class
subclass of: organ system subdivision
imported from: uberon.owl
database_cross_reference: GAID:1233
has_obo_namespace: uberon
has_related_synonym: optic lobe
id: UBERON:0006794
in subset: grouping class
comment: This grouping class is primarily to accommodate GO

orbital gyrus
type: Class
subclass of: gyrus
definition: The inferior or orbital surface of the frontal lobe is concave, and rests on the orbital plate of the frontal bone. It is divided into four orbital gyri by a well-marked H-shaped orbital sulcus. These are named, from their position, the medial, anterior, lateral, and posterior orbital gyri. The medial orbital gyrus presents a well-marked antero-posterior sulcus, the olfactory sulcus, for the olfactory tract; the portion medial to this is named the straight gyrus, and is continuous with the superior frontal gyrus on the medial surface.
imported from: uberon.owl
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Orbital gyri
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/280372002
database_cross_reference: BAMS:OrG
database_cross_reference: FMA:256194
alternative_term: orbital gyri
has_obo_namespace: uberon
has_related_synonym: gyrus orbitales
id: UBERON:0007193
from ESSO: true

nuclear complex of neuraxis
type: Class
subclass of: gray matter
definition: Gray matter of the central nervous system which is a collection of clustered nuclei.
imported from: uberon.owl
database_cross_reference: FMA:256381
database_cross_reference: FMA:84059
has_obo_namespace: uberon
has_related_synonym: cluster of neural nuclei
has_related_synonym: neural nuclei
has_related_synonym: nuclear complex
id: UBERON:0007245

tract of brain
type: Class
subclass of: axon tract
definition: An axon tract that is part of a brain.
editor note: the NIFSTD class 'nerve tract' is classified under 'regional part of brain', so it may seem like it belongs here, but actually includes spinal cord tracts
imported from: uberon.owl
database_cross_reference: FMA:83848
alternative_term: brain tract
has_obo_namespace: uberon
has_related_synonym: landmark tracts
id: UBERON:0007702

subarachnoid sulcus
type: Class
subclass of: sulcus of brain
imported from: uberon.owl
database_cross_reference: FMA:75759
has_obo_namespace: uberon
id: UBERON:0008334

somatosensory cortex
type: Class
subclass of: functional part of brain
definition: Area of the parietal lobe concerned with receiving general sensations. It lies posterior to the central sulcus.
editor note: TODO - add layers
editor note: TODO - add relationship to system (not part of, as sensory systems are peripheral)
imported from: uberon.owl
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/279252006
database_cross_reference: BAMS:SS
database_cross_reference: BTO:0004353
database_cross_reference: EFO:0001391
database_cross_reference: FMA:242642
database_cross_reference: GAID:681
database_cross_reference: MBA:453
database_cross_reference: MESH:A08.186.211.730.885.213.670.675
alternative_term: somatic sensory cortex
has_obo_namespace: uberon
has_related_synonym: primary somatic sensory cortex
has_related_synonym: somatic sensory cortex
has_related_synonym: somatosensory area
has_related_synonym: somatosensory areas
has_related_synonym: somesthetic area
id: UBERON:0008930
in subset: efo slim
in subset: pheno slim

primary somatosensory cortex
type: Class
subclass of: somatosensory cortex
definition: (Chapin & Lin, 1984, rat): the region considered as the SI cortex is not a cytoarchitecturally homogeneous structure but consists instead of a patchwork array of areas containing dense aggregations of layer IV granule cells, surrounded by granule-cell-sparse regions. As was shown by Welker (b71,b76), and in our own mapping studies (see Fig. 3), this discontinuous pattern of granular, or koniocortical, zones contains within itself a map of the ratbs cutaneous periphery. There are clear subtypes within this cytoarchitectural subregion, notably including the bgranular aggregateb type of cytoarchitecture characteristic of the paw, limb, and mystacial vibrissae areas, and the bbarrel-fieldb type (originally described by Woolsey and Van der Loos, b70) seen in the nose and perioral regions. In the mouse, but not the rat, such barrels also cover the whole whisker representation (Welker and Woolsey, b74).
imported from: uberon.owl
external_ontology_notes: ABA disjointness - Removed relationship: part_of UBERON:0001870 frontal cortex
has_broad_synonym: S1
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: BAMS:S1
database_cross_reference: BAMS:SSp
database_cross_reference: DHBA:10209
database_cross_reference: EMAPA:35706
database_cross_reference: MA:0000908
database_cross_reference: MBA:322
database_cross_reference: NLX:143551
alternative_term: primary somatosensory cortex (area S1, areas 3,1,2)
alternative_term: somatosensory area 1
has_obo_namespace: uberon
has_related_synonym: S1C
has_related_synonym: postcentral gyrus
has_related_synonym: primary somatosensory area
id: UBERON:0008933
in subset: pheno slim
from ESSO: true

secondary somatosensory cortex
type: Class
subclass of: somatosensory cortex
definition: the area of the upper bank of the lateral sulcus that is involved in somatic sensation
editor note: TODO - check brodmann
imported from: uberon.owl
has_broad_synonym: S2
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26295917
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: BAMS:S2
database_cross_reference: BAMS:SSs
database_cross_reference: EMAPA:35756
database_cross_reference: MA:0000918
database_cross_reference: MBA:378
alternative_term: somatosensory area 2
has_obo_namespace: uberon
has_related_synonym: supplemental somatosensory area
id: UBERON:0008934
in subset: pheno slim
from pub med: true

dorsolateral prefrontal cortex
type: Class
subclass of: regional part of brain
definition: The dorsolateral prefrontal cortex (DL-PFC or DLPFC), according to a more restricted definition, is roughly equivalent to Brodmann areas 9 and 46.[1] According to a broader definition DL-PFC consists of the lateral portions of Brodmann areas 9 - 12, of areas 45, 46, and the superior part of area 47.[2] These regions mainly receive their blood supply from the middle cerebral artery. With respect to neurotransmitter systems, there is evidence that dopamine plays a particularly important role in DL-PFC.[2]DL-PFC is connected to the orbitofrontal cortex, and to a variety of brain areas, which include the thalamus, parts of the basal ganglia (the dorsal caudate nucleus), the hippocampus, and primary and secondary association areas of neocortex, including posterior temporal, parietal, and occipital areas
editor note: check dorsolateral prefrontal neocortex
imported from: uberon.owl
database_cross_reference: Dorsolateral prefrontal cortex
database_cross_reference: DHBA:10173
database_cross_reference: FMA:276189
has_obo_namespace: uberon
id: UBERON:0009834
from ESSO: true

multicellular anatomical structure
type: Class
subclass of: anatomical structure
definition: An anatomical structure that has more than one cell as a part.
imported from: uberon.owl
database_cross_reference: CARO:0010000
database_cross_reference: FBbt:00100313
alternative_term: multicellular structure
has_obo_namespace: uberon
id: UBERON:0010000
in subset: upper level

central nervous system cell part cluster
type: Class
subclass of: multi cell part structure
definition: A multi cell part structure that is part of a central nervous system.
imported from: uberon.owl
database_cross_reference: FMA:83143
alternative_term: cell part cluster of neuraxis
alternative_term: neuraxis layer
has_obo_namespace: uberon
id: UBERON:0011215
in subset: upper level

organ system subdivision
type: Class
subclass of: multicellular anatomical structure
definition: A subdivision of an anatomical system.
imported from: uberon.owl
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/91690000
database_cross_reference: FBbt:00007330
database_cross_reference: FMA:67509
has_obo_namespace: uberon
id: UBERON:0011216
in subset: upper level

gray matter of telencephalon
type: Class
subclass of: gray matter of forebrain
definition: A portion of gray matter that is part of a telencephalon.
imported from: uberon.owl
has_alternative_id: UBERON:0024186
database_cross_reference: BIRNLEX:1067
database_cross_reference: FMA:83911
alternative_term: predominantly gray regional part of telencephalon
has_obo_namespace: uberon
id: UBERON:0011300

sulcus of brain
type: Class
subclass of: sulcus
definition: A depression or fissure in the surface of the brain. It surrounds the gyri, creating the characteristic appearance of the brain in humans and other large mammals.
editor note: sulci are considered absent from lissencephalic mammals such as mice, but they may possess fissures. For example, the Allen mouse brain Atlas includes hippocampal, rhinal and choroid fissure. For this reason we do not place a taxon constraint on this class
imported from: uberon.owl
external_definition: Indentation on the surface of the brain or spinal cord that forms a recognizable landmark, e.g., central sulcus, sulcus limitans (CUMBO)
has_broad_synonym: sulci & spaces
has_broad_synonym: sulcus
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Sulcus (neuroanatomy)
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/279337001
database_cross_reference: DHBA:10610
database_cross_reference: HBA:9352
database_cross_reference: NCIT:C32292
alternative_term: cerebral sulci
has_narrow_synonym: fissure of brain
has_obo_namespace: uberon
has_related_synonym: cerebral sulci
has_related_synonym: cerebral sulcus
id: UBERON:0013118
in subset: cumbo

Brodmann (1909) area 11
type: Class
subclass of: Brodmann area
definition: Brodmann area 11 is one of Brodmann's cytologically defined regions of the brain. It is involved in planning, reasoning, and decision making.
imported from: uberon.owl
has_broad_synonym: B09-11
has_broad_synonym: area praefrontalis
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Brodmann area 11
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272533
database_cross_reference: BIRNLEX:1742
database_cross_reference: FMA:68608
database_cross_reference: UMLS:C1272533
alternative_term: B09-11
alternative_term: Brodmann (1909) area 11
alternative_term: Brodmann area 11, prefrontal
alternative_term: area 11 of Brodmann
alternative_term: area 11 of Brodmann-1909
alternative_term: medial orbital area
has_obo_namespace: uberon
has_related_synonym: BA11
has_related_synonym: area 11 of Brodmann
has_related_synonym: area 11 of Brodmann (guenon)
has_related_synonym: area orbitalis interna
has_related_synonym: brodmann's area 11
has_related_synonym: prefrontal area 11
id: UBERON:0013528
from ESSO: true

Brodmann area
type: Class
subclass of: regional part of brain
definition: A segmentation of the cerebral cortex on the basis of cytoarchitecture as described in Brodmann-1905, Brodmann-1909 and Brodmann-10. Maps for several species were presented. NeuroNames includes only areas in the human and in Old World monkeys. Of the latter, Brodmann studied representatives of several species including guenons (one Cercopithecus mona, one Cercocebus torquatus, and one Cercopithecus otherwise unspecified), which are all closely related African species, and one macaque (Macaca mulatta) an Asian species (Brodmann-1905). The legend to the summary map in Brodmann-1909 ascribes the areas simply to Cercopithecus. Brodmann referenced the areas by name and number. The same area number in humans and monkeys did not necessarily refer to topologically or cytoarchitecturally homologous structures. In NeuroNames the standard term for human areas consists of the English translation of Brodmann's Latin name followed by the number he assigned, e.g., agranular frontal area 6; the standard terms for monkey areas are in the format: area 6 of Brodmann-1909. He mapped a portion of areas limited to the banks of sulci, e.g., area 3 of Brodmann-1909 (Brodmann-1909) onto the adjacent, visible surface. This accounts for the fact that some areas appear larger on his surface map than on maps of other authors, e.g., area 3 of Vogts-1919. (Adapted from NeuroNames)
imported from: uberon.owl
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Brodmann area
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/384717008
database_cross_reference: BAMS:VTM
database_cross_reference: BIRNLEX:1731
database_cross_reference: FMA:68596
database_cross_reference: NCIT:C94868
database_cross_reference: WikipediaCategory:Brodmann_areas
has_obo_namespace: uberon
has_related_synonym: Brodmann parcellation scheme region
has_related_synonym: Brodmann partition scheme region
has_related_synonym: Brodmann's areas
id: UBERON:0013529

Brodmann (1909) area 2
type: Class
subclass of: Brodmann area
imported from: uberon.owl
has_broad_synonym: B09-2
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Brodmann area 2
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272524
database_cross_reference: BIRNLEX:1733
database_cross_reference: FMA:68598
database_cross_reference: UMLS:C1272524
alternative_term: B09-2
alternative_term: Brodmann (1909) area 2
alternative_term: Brodmann area 2
alternative_term: Brodmann area 2, caudal postcentral
alternative_term: Brodmann's area 2
alternative_term: area 2 of Brodmann
alternative_term: area 2 of Brodmann-1909
alternative_term: area postcentralis caudalis
alternative_term: caudal postcentral area
has_obo_namespace: uberon
has_related_synonym: BA2
has_related_synonym: area 2 of Brodmann (guenon)
has_related_synonym: postcentral gyrus
id: UBERON:0013533
from ESSO: true

Brodmann (1909) area 4
type: Class
subclass of: Brodmann area
definition: The term area 4 of Brodmann-1909 refers to a cytoarchitecturally defined portion of the frontal lobe of the guenon. It is located predominantly in the precentral gyrus. Brodmann-1909 regarded it as topographically and cytoarchitecturally homologous to the human gigantopyramidal area 4 and noted that it occupies a much greater fraction of the frontal lobe in the monkey than in the human. Distinctive features (Brodmann-1905): the cortex is unusually thick; the layers are not distinct; the cells are relatively sparsely distributed; giant pyramidal (Betz) cells are present in the internal pyramidal layer (V); lack of an internal granular layer (IV) such that the boundary between the external pyramidal layer (III) and the internal pyramidal layer (V) is indistinct; lack of a distinct external granular layer (II); a gradual transition from the multiform layer (VI) to the subcortical white matter.
imported from: uberon.owl
has_broad_synonym: B09-4
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Brodmann area 4
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272526
database_cross_reference: BIRNLEX:1735
database_cross_reference: FMA:68600
database_cross_reference: UMLS:C1272526
alternative_term: B09-4
alternative_term: Brodmann (1909) area 4
alternative_term: Brodmann area 4
alternative_term: Brodmann area 4, gigantopyramidal
alternative_term: Brodmann's area 4
alternative_term: area 4 of Brodmann
alternative_term: area 4 of Brodmann-1909
alternative_term: area gigantopyramidalis
alternative_term: giant pyramidal area
has_obo_namespace: uberon
has_related_synonym: BA4
has_related_synonym: area 4 of Brodmann (guenon)
id: UBERON:0013535
from ESSO: true

Brodmann (1909) area 7
type: Class
subclass of: Brodmann area
definition: Brodmann area 7 is one of Brodmann's cytologically defined regions of the brain. It is involved in locating objects in space. It serves as a point of convergence between vision and proprioception to determine where objects are in relation to parts of the body.
imported from: uberon.owl
has_broad_synonym: B09-7
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Brodmann area 7
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272529
database_cross_reference: BIRNLEX:1738
database_cross_reference: FMA:68604
database_cross_reference: UMLS:C1272529
alternative_term: B09-7
alternative_term: Brodmann (1909) area 7
alternative_term: Brodmann area 7
alternative_term: Brodmann area 7, superior parietal
alternative_term: area 7 of Brodmann
alternative_term: area 7 of Brodmann-1909
alternative_term: area parietalis superior
has_obo_namespace: uberon
has_related_synonym: BA7
has_related_synonym: gyrus F3
has_related_synonym: gyrus frontalis tertius
has_related_synonym: regio subfrontalis
id: UBERON:0013538
from ESSO: true

Brodmann (1909) area 8
type: Class
subclass of: Brodmann area
definition: Brodmann area 8 is one of Brodmann's cytologically defined regions of the brain. It is involved in planning complex movements.
imported from: uberon.owl
has_broad_synonym: B09-8
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Brodmann area 8
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272530
database_cross_reference: BIRNLEX:1739
database_cross_reference: FMA:68605
database_cross_reference: UMLS:C1272530
alternative_term: B09-8
alternative_term: Brodmann (1909) area 8
alternative_term: Brodmann area 8
alternative_term: Brodmann area 8, intermediate frontal
alternative_term: area 8 of Brodmann
alternative_term: area 8 of Brodmann-1909
alternative_term: area frontalis intermedia
alternative_term: intermediate frontal area
has_obo_namespace: uberon
has_related_synonym: BA8
has_related_synonym: area 8 of Brodmann (guenon)
has_related_synonym: brodmann's area 8
id: UBERON:0013539
from ESSO: true

Brodmann (1909) area 9
type: Class
subclass of: Brodmann area
definition: .
imported from: uberon.owl
has_broad_synonym: B09-9
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Brodmann area 9
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272531
database_cross_reference: BIRNLEX:1740
database_cross_reference: FMA:68606
database_cross_reference: UMLS:C1272531
has definition: The term area 9 of Brodmann (human) refers to a subdivision of the cytoarchitecturally defined frontal region of cerebral cortex in the human. It occupies portions of the superior frontal gyrus and the middle frontal gyrus. Its approximate boundary on the medial aspect of the hemisphere is the cingulate sulcus and, on the lateral aspect, the inferior frontal sulcus. Cytoarchitecturally it is bounded dorsocaudally by area 8 of Brodmann (human), caudally by area 6 of Brodmann (human), and ventrally by area 10 of Brodmann (human), area 46 of Brodmann and area 44 of Brodmann ( Brodmann-1909 ).
alternative_term: B09-9
alternative_term: Brodmann (1909) area 9
alternative_term: Brodmann area 9
alternative_term: Brodmann area 9, granular frontal
alternative_term: area 9 of Brodmann
alternative_term: area 9 of Brodmann-1909
alternative_term: area frontalis granularis
alternative_term: granular frontal area
has_obo_namespace: uberon
has_related_synonym: BA9
has_related_synonym: area 9 of Brodmann (guenon)
has_related_synonym: brodmann's area 9
id: UBERON:0013540
from ESSO: true

Axiom
annotated source: Brodmann (1909) area 9
annotated property: hasDefinition
annotated target: The term area 9 of Brodmann (human) refers to a subdivision of the cytoarchitecturally defined frontal region of cerebral cortex in the human. It occupies portions of the superior frontal gyrus and the middle frontal gyrus. Its approximate boundary on the medial aspect of the hemisphere is the cingulate sulcus and, on the lateral aspect, the inferior frontal sulcus. Cytoarchitecturally it is bounded dorsocaudally by area 8 of Brodmann (human), caudally by area 6 of Brodmann (human), and ventrally by area 10 of Brodmann (human), area 46 of Brodmann and area 44 of Brodmann ( Brodmann-1909 ).

Brodmann (1909) area 10
type: Class
subclass of: Brodmann area
definition: Brodmann area 10, or BA10, is part of the frontal cortex in the human brain. BA10 encompasses the most anterior part of the frontal cortex, known as the frontopolar region. This area is believed to play a part in strategic processes involved in memory retrieval and executive function. This area is also called frontopolar area 10, and it refers to a subdivision of the cytoarchitecturally defined frontal region of cerebral cortex. It occupies the most rostral portions of the superior frontal gyrus and the middle frontal gyrus. In humans, on the medial aspect of the hemisphere it is bounded ventrally by the superior rostral sulcus (H). It does not extend as far as the cingulate sulcus. Cytoarchitecturally it is bounded dorsally by the granular frontal area 9, caudally by the middle frontal area 46, and ventrally by the orbital area 47 and by the rostral area 12 or, in an early version of Brodmann's cortical map (Brodmann-1909), the prefrontal Brodmann area 11-1909.
imported from: uberon.owl
has_broad_synonym: B09-10
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Brodmann area 10
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272532
database_cross_reference: BAMS:ros
database_cross_reference: BIRNLEX:1741
database_cross_reference: DHBA:146034836
database_cross_reference: FMA:68607
database_cross_reference: UMLS:C1272532
alternative_term: B09-10
alternative_term: Brodmann (1909) area 10
alternative_term: Brodmann area 10
alternative_term: Brodmann area 10, frontoplar
alternative_term: area 10 of Brodmann
alternative_term: area 10 of Brodmann-1909
alternative_term: area frontopolaris
alternative_term: lateral orbital area
has_obo_namespace: uberon
has_related_synonym: BA10
has_related_synonym: rostral sulcus
has_related_synonym: sulcus rectus
has_related_synonym: sulcus rectus (Krieg)
id: UBERON:0013541
from ESSO: true

Brodmann (1909) area 12
type: Class
subclass of: Brodmann area
definition: Brodmann area 12 is a subdivision of the cerebral cortex of the guenon defined on the basis of cytoarchitecture. It occupies the most rostral portion of the frontal lobe. Brodmann-1909 did not regard it as homologous, either topographically or cytoarchitecturally, to rostral area 12 of the human. Distinctive features (Brodmann-1905): a quite distinct internal granular layer (IV) separates slender pyramidal cells of the external pyramidal layer (III) and the internal pyramidal layer (V); the multiform layer (VI) is expanded, contains widely dispersed spindle cells and merges gradually with the underlying cortical white matter; all cells, including the pyramidal cells of the external and internal pyramidal layers are inordinately small; the internal pyramidal layer (V) also contains spindle cells in groups of two to five located close to its border with the internal granular layer (IV).
imported from: uberon.owl
has_alternative_id: UBERON:0013530
has_broad_synonym: B09-12
has_broad_synonym: area praefrontalis
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Brodmann area 12
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272534
database_cross_reference: BIRNLEX:1743
database_cross_reference: FMA:68609
database_cross_reference: UMLS:C1272534
alternative_term: B09-12
alternative_term: Brodmann (1909) area 12
alternative_term: Brodmann area 12
alternative_term: Brodmann area 12, prefrontal
alternative_term: area 12 of Brodmann
alternative_term: area 12 of Brodmann-1909
alternative_term: area praefrontalis
alternative_term: frontopolar area
has_obo_namespace: uberon
has_related_synonym: BA12
has_related_synonym: sulcus fronto-orbitalis
id: UBERON:0013543
from ESSO: true

Brodmann (1909) area 19
type: Class
subclass of: Brodmann area
definition: Brodmann area 19, or BA19, is part of the occipital lobe cortex in the human brain. Along with area 18, it comprises the extrastriate (or peristriate) cortex. In normally-sighted humans, extrastriate cortex is a visual association area, with feature-extracting, shape recognition, attentional, and multimodal integrating functions. This area is also known as peristriate area 19, and it refers to a subdivision of the cytoarchitecturally defined occipital region of cerebral cortex. In the human it is located in parts of the lingual gyrus, the cuneus, the lateral occipital gyrus (H) and the superior occipital gyrus (H) of the occipital lobe where it is bounded approximately by the parieto-occipital sulcus. Cytoarchitecturally it is bounded on one side by the parastriate area 18 which it surrounds. Rostrally it is bounded by the angular area 39 (H) and the occipitotemporal area 37 (H) (Brodmann-1909).
imported from: uberon.owl
has_broad_synonym: B09-19
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Brodmann area 19
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272537
database_cross_reference: BIRNLEX:1750
database_cross_reference: FMA:68616
database_cross_reference: UMLS:C1272537
alternative_term: B09-19
alternative_term: Brodmann (1909) area 19
alternative_term: Brodmann area 19
alternative_term: Brodmann area 19, peristriate
alternative_term: Brodmann's area 19
alternative_term: area 19 of Brodmann
alternative_term: area 19 of Brodmann-1909
alternative_term: area peristriata
alternative_term: preoccipital area
has_obo_namespace: uberon
has_related_synonym: BA19
has_related_synonym: area 19 of Brodmann (guenon)
has_related_synonym: area praeoccipitalis
id: UBERON:0013550
from ESSO: true

Brodmann (1909) area 21
type: Class
subclass of: Brodmann area
definition: Brodmann area 21, or BA21, is part of the temporal cortex in the human brain. The region encompasses most of the lateral temporal cortex, a region believed to play a part in auditory processing and language. Language function is left lateralized in most individuals. BA21 is superior to BA20 and inferior to BA40 and BA41. This area is also known as middle temporal area 21. It is a subdivision of the cytoarchitecturally defined temporal region of cerebral cortex. In the human it corresponds approximately to the middle temporal gyrus. It is bounded rostrally by the temporopolar area 38 (H), ventrally by the inferior temporal area 20, caudally by the occipitotemporal area 37 (H), and dorsally by the superior temporal area 22 (Brodmann-1909). [WP,unvetted].
imported from: uberon.owl
has_broad_synonym: B09-21
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Brodmann area 21
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272539
database_cross_reference: BIRNLEX:1752
database_cross_reference: FMA:68618
database_cross_reference: UMLS:C1272539
alternative_term: B09-21
alternative_term: BA21
alternative_term: Brodmann (1909) area 21
alternative_term: Brodmann area 21
alternative_term: Brodmann area 21, middle temporal
alternative_term: area 21 of Brodmann
alternative_term: area 21 of Brodmann-1909
has_obo_namespace: uberon
has_related_synonym: area 21 of Brodmann (guenon)
has_related_synonym: area temporalis media
has_related_synonym: brodmann's area 21
id: UBERON:0013552
from ESSO: true

Brodmann (1909) area 22
type: Class
subclass of: Brodmann area
definition: Brodmann area 22 is one of Brodmann's cytologically defined regions of the brain. It is involved in auditory processing.
imported from: uberon.owl
has_broad_synonym: B09-22
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Brodmann area 22
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272540
database_cross_reference: BIRNLEX:1753
database_cross_reference: FMA:68619
database_cross_reference: UMLS:C1272540
alternative_term: B09-22
alternative_term: Brodmann (1909) area 22
alternative_term: Brodmann area 22
alternative_term: Brodmann area 22, superior temporal
alternative_term: Superior temporal area
alternative_term: area 22 of Brodmann
alternative_term: area 22 of Brodmann-1909
alternative_term: area temporalis superior
has_obo_namespace: uberon
has_related_synonym: BA22
has_related_synonym: area 22 of Brodmann (guenon)
has_related_synonym: brodmann's area 22
id: UBERON:0013553
from ESSO: true

Brodmann (1909) area 23
type: Class
subclass of: Brodmann area
definition: The term area 23 of Brodmann-1909 refers to a subdivision of the cerebral cortex of the guenon defined on the basis of cytoarchitecture. Brodmann regarded it as topographically and cytoarchitecturally homologous to the combined ventral posterior cingulate area 23 and dorsal posterior cingulate area 31 of the human (Brodmann-1909). Distinctive Features (Brodmann-1905): the cortex is relatively thin; smaller cells predominate; the cell density of the multiform layer (VI) is great, producing a distinct boundary with the subcortical white matter; the internal granular layer (IV) is rather well developed; the internal pyramidal layer (V) contains a dense population of round, medium-sized ganglion cells concentrated at the border with layer IV; layers V and VI are narrow with a distinct mutual boundary.nn* Definition Source NeuroNames
imported from: uberon.owl
has_broad_synonym: B09-23
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Brodmann area 23
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272541
database_cross_reference: BIRNLEX:1754
database_cross_reference: FMA:68620
database_cross_reference: UMLS:C1272541
alternative_term: B09-23
alternative_term: Brodmann (1909) area 23
alternative_term: Brodmann area 23
alternative_term: Brodmann area 23, ventral posterior cingulate
alternative_term: area 23 of Brodmann
alternative_term: area 23 of Brodmann-1909
alternative_term: area cingularis posterior ventralis
alternative_term: granular cingulate area
alternative_term: posterior cingulate area
has_obo_namespace: uberon
has_related_synonym: BA23
has_related_synonym: area 23 of Brodmann (guenon)
has_related_synonym: area cingularis posterior
has_related_synonym: brodmann's area 23
has_related_synonym: ventral posterior cingulate area
id: UBERON:0013554
from ESSO: true

Brodmann (1909) area 25
type: Class
subclass of: Brodmann area
definition: Brodmann area 25 (BA25) is an area in the cerebral cortex of the brain and delineated based on its cytoarchitectonic characteristics. It is also called the subgenual area or area subgenualis. It is the 25th 'Brodmann area' defined by Korbinian Brodmann (thus its name). BA25 is located in the cingulate region as a narrow band in the caudal portion of the subcallosal area adjacent to the paraterminal gyrus. The posterior parolfactory sulcus separates the paraterminal gyrus from BA25. Rostrally it is bound by the prefrontal area 11 of Brodmann.
imported from: uberon.owl
has_broad_synonym: B09-25
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Brodmann area 25
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272543
database_cross_reference: BIRNLEX:1756
database_cross_reference: FMA:68622
database_cross_reference: UMLS:C1272543
alternative_term: B09-25
alternative_term: Brodmann (1909) area 25
alternative_term: Brodmann area 25
alternative_term: Brodmann area 25, subgenual
alternative_term: Brodmann's area 25
alternative_term: area 25 of Brodmann
alternative_term: area 25 of Brodmann-1909
alternative_term: area subgenualis
has_obo_namespace: uberon
has_related_synonym: BA25
has_related_synonym: area 25 of Brodmann (guenon)
id: UBERON:0013556
from ESSO: true

Brodmann (1909) area 27
type: Class
subclass of: Brodmann area
definition: Area 27 of Brodmann-1909 is a cytoarchitecturally defined cortical area that is a rostral part of the parahippocampal gyrus of the guenon (Brodmann-1909). It is commonly regarded as a synonym of presubiculum (Crosby-62). [WP,unvetted].
imported from: uberon.owl
has_broad_synonym: B09-27
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Brodmann area 27
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0175194
database_cross_reference: BIRNLEX:1758
database_cross_reference: FMA:68624
database_cross_reference: UMLS:C0175194
alternative_term: B09-27
alternative_term: BA27
alternative_term: Brodmann (1909) area 27
alternative_term: Brodmann area 26, presubicular
alternative_term: Brodmann area 27
alternative_term: area 27
alternative_term: area 27 of Brodmann
alternative_term: area 27 of Brodmann-1909
alternative_term: area praesubicularis
alternative_term: presubicular area
has_obo_namespace: uberon
has_related_synonym: area 27 of Brodmann (guenon)
has_related_synonym: brodmann's area 27
id: UBERON:0013558
from ESSO: true

Brodmann (1909) area 28
type: Class
subclass of: Brodmann area
definition: .
imported from: uberon.owl
has_broad_synonym: B09-28
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/10775518
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Brodmann area 28
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0598377
database_cross_reference: BIRNLEX:1759
database_cross_reference: FMA:68625
database_cross_reference: UMLS:C0598377
alternative_term: B09-28
alternative_term: BA28
alternative_term: Brodmann (1909) area 28
alternative_term: Brodmann area 28
alternative_term: Brodmann area 28, entorhinal
alternative_term: area 28 of Brodmann
alternative_term: area 28 of Brodmann (Crosby)
alternative_term: area 28 of Brodmann-1909
alternative_term: area entorhinalis
alternative_term: area entorhinalis ventralis
has_obo_namespace: uberon
has_related_synonym: area 28 of Brodmann (guenon)
id: UBERON:0013559
from pub med: true

Brodmann (1909) area 32
type: Class
subclass of: Brodmann area
definition: The Brodmann area 32, also known in the human brain as the dorsal anterior cingulate area 32, refers to a subdivision of the cytoarchitecturally defined cingulate region of cerebral cortex. In the human it forms an outer arc around the anterior cingulate gyrus. The cingulate sulcus defines approximately its inner boundary and the superior rostral sulcus (H) its ventral boundary; rostrally it extends almost to the margin of the frontal lobe. Cytoarchitecturally it is bounded internally by the ventral anterior cingulate area 24, externally by medial margins of the agranular frontal area 6, intermediate frontal area 8, granular frontal area 9, frontopolar area 10, and prefrontal area 11-1909. (Brodmann19-09). Dorsal region of anterior cingulate gyrus is associated with rational thought processes, most notably active during the Stroop task.
imported from: uberon.owl
has_broad_synonym: B09-32
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Brodmann area 32
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272493
database_cross_reference: BIRNLEX:1760
database_cross_reference: EMAPA:36447
database_cross_reference: FMA:68629
database_cross_reference: MBA:972
database_cross_reference: UMLS:C1272493
alternative_term: B09-32
alternative_term: Brodmann (1909) area 32
alternative_term: Brodmann area 32
alternative_term: Brodmann area 32, dorsal anterior cingulate
alternative_term: Prelimbic area
alternative_term: area 32 of Brodmann
alternative_term: area 32 of Brodmann-1909
alternative_term: area cingularis anterior dorsalis
has_obo_namespace: uberon
has_related_synonym: BA32
has_related_synonym: area 25 of Brodmann-1905
has_related_synonym: area 32 of Brodmann (guenon)
has_related_synonym: area praelimbica
has_related_synonym: brodmann's area 32
id: UBERON:0013560
from ESSO: true

Brodmann (1909) area 40
type: Class
subclass of: Brodmann area
definition: Brodmann area 40, or BA40, is part of the parietal cortex in the human brain. The inferior part of BA40 is in the area of the supramarginal gyrus, which lies at the posterior end of the lateral fissure, in the inferior lateral part of the parietal lobe. It is bounded approximately by the intraparietal sulcus, the inferior postcentral sulcus, the posterior subcentral sulcus and the lateral sulcus. Cytoarchitecturally it is bounded caudally by the angular area 39 (H), rostrally and dorsally by the caudal postcentral area 2, and ventrally by the subcentral area 43 and the superior temporal area 22 (Brodmann-1909). Cytoarchitectonically defined subregions of rostral BA40/the supramarginal gyrus are PF, PFcm, PFm, PFop, and PFt. Area PF is the homologue to macaque area PF, part of the mirror neuron system, and active in humans during imitation. The supramarginal gyrus part of Brodmann area 40 is the region in the inferior parietal lobe that is involved in reading both in regards to meaning and phonology. [WP,unvetted].
imported from: uberon.owl
has_broad_synonym: B09-40
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Supramarginal gyrus
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1272501
database_cross_reference: BIRNLEX:1773
database_cross_reference: FMA:68637
database_cross_reference: UMLS:C1272501
alternative_term: B09-40
alternative_term: Brodmann (1909) area 40
alternative_term: Brodmann area 40
alternative_term: Brodmann area 40, supramarginal
alternative_term: Supramarginal area 40
alternative_term: area 40 of Brodmann
alternative_term: area 40 of Brodmann-1909
alternative_term: area supramarginalis
has_obo_namespace: uberon
id: UBERON:0013573
from ESSO: true

occipital gyrus
type: Class
subclass of: gyrus
definition: A gyrus that is part of a occipital lobe.
imported from: uberon.owl
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1110642
database_cross_reference: BAMS:OG
database_cross_reference: BIRNLEX:747
database_cross_reference: UMLS:C1110642
has_obo_namespace: uberon
has_related_synonym: gyrus occipitalis
id: UBERON:0014640

frontal gyrus
type: Class
subclass of: gyrus
definition: A gyrus that is part of a frontal cortex.
imported from: uberon.owl
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0228195
database_cross_reference: NCIT:C32636
has_obo_namespace: uberon
id: UBERON:0015593

frontal lobe
type: Class
subclass of: lobe of cerebral hemisphere
definition: Frontal lobe is the anterior-most of five lobes of the cerebral hemisphere. It is bounded by the central sulcus on its posterior border and by the longitudinal cerebral fissure on its medial border.
editor note: Many species don't have lobes but they do have frontal cortex. Lobe isn't a really well defined term though
imported from: uberon.owl
has_broad_synonym: frontal region
has_broad_synonym: regio frontalis
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0016733
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1268977
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/180920004
database_cross_reference: BAMS:Frontal_lobe
database_cross_reference: BIRNLEX:928
database_cross_reference: BM:Tel-Cx-FR
database_cross_reference: CALOHA:TS-0389
database_cross_reference: DHBA:12113
database_cross_reference: EFO:0000913
database_cross_reference: EV:0100167
database_cross_reference: FMA:61824
database_cross_reference: HBA:4009
database_cross_reference: MAT:0000505
database_cross_reference: MESH:A08.186.211.730.885.213.270
database_cross_reference: NCIT:C12352
database_cross_reference: OpenCyc:Mx4rv3OJ8JwpEbGdrcN5Y29ycA
database_cross_reference: UMLS:C0016733
database_cross_reference: UMLS:C1268977
alternative_term: lobi frontales
alternative_term: lobus frontalis
has_narrow_synonym: frontal cortex
has_obo_namespace: uberon
id: UBERON:0016525
in subset: efo slim
from ESSO: true

lobe of cerebral hemisphere
type: Class
subclass of: organ part
definition: Subdivision of telencephalon which is one of a number of subdivisions of each hemisphere separated by both real landmarks (sulci and fissures) and arbitrary boundaries[FMA,modified].
imported from: uberon.owl
fma_set_term: FMA_77800
has_alternative_id: UBERON:0000322
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/272632001
database_cross_reference: BIRNLEX:922
database_cross_reference: BTO:0000445
database_cross_reference: FMA:61823
alternative_term: cerebral hemisphere lobe
alternative_term: cerebral lobe
alternative_term: lobe of cerebral cortex
alternative_term: lobe parts of cerebral cortex
alternative_term: lobi cerebri
has_obo_namespace: uberon
has_related_synonym: cerebral cortical segment
has_related_synonym: lobes of the brain
has_related_synonym: regional organ part of cerebral cortex
has_related_synonym: segment of cerebral cortex
id: UBERON:0016526
comment: We use the term lobe broadly as a rough regional area, encompassing homologous regions in smooth-brained mammals. We subdivide the lobes into white matter and neocortical parts.

cortex of cerebral lobe
type: Class
subclass of: gray matter
subclass of: cerebral hemisphere gray matter
definition: Grey matter neocortex region of a lobe of the cerebral hemisphere.
imported from: uberon.owl
database_cross_reference: FMA:242197
alternative_term: cortex of cerebral hemisphere lobe
alternative_term: cortex of lobe of cerebral hemisphere
has_obo_namespace: uberon
has_related_synonym: gray matter of lobe of cerebral hemisphere
has_related_synonym: neocortical part of cerebral hemisphere
id: UBERON:0016529

parietal cortex
type: Class
subclass of: cortex of cerebral lobe
definition: Gray matter of the parietal region of the neocortex, located in the parietal lobe of gyrencephalic animals. It is continuous anteriorly with the frontal cortex, posteriorly with the occipital cortex and medially with the insular cortex and with the temporal cortex on the posterior/inferior border.
imported from: uberon.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29519472
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/369217001
database_cross_reference: DHBA:10208
database_cross_reference: DMBA:16016
database_cross_reference: EMAPA:35667
database_cross_reference: FMA:242203
database_cross_reference: MA:0000916
database_cross_reference: NLX:79282
alternative_term: cortex of parietal lobe
alternative_term: parietal lobe cortex
alternative_term: parietal neocortex
has_obo_namespace: uberon
has_related_synonym: gray matter of parietal lobe
id: UBERON:0016530
in subset: pheno slim
from pub med: true

central nervous system gray matter layer
type: Class
subclass of: nervous system cell part layer
definition: A layer of of the central nervous system that is part of gray matter.
imported from: uberon.owl
has_broad_synonym: grey matter layer
database_cross_reference: FMA:83142
alternative_term: CNS gray matter layer
alternative_term: CNS grey matter layer
alternative_term: gray matter layer of neuraxis
alternative_term: grey matter layer of neuraxis
has_obo_namespace: uberon
id: UBERON:0016548

premotor cortex
type: Class
subclass of: regional part of brain
definition: The premotor cortex is an area of motor cortex lying within the frontal lobe of the brain. It extends 3 mm anterior to the primary motor cortex, near the Sylvian fissure, before narrowing to approximately 1 mm near the medial longitudinal fissure, which serves as the posterior border for the prefrontal cortex. The premotor cortex is largely equivalent to Brodmann area 6. Activity within this region is critical to the sensory guidance of movement and control of proximal and trunk muscles of the body.
imported from: uberon.owl
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Premotor cortex
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/90928005
database_cross_reference: DHBA:10168
database_cross_reference: FMA:224852
database_cross_reference: MBA:993
alternative_term: premotor cortex (area 6)
has_obo_namespace: uberon
has_related_synonym: intermediate precentral cortex
has_related_synonym: nonprimary motor cortex
has_related_synonym: premotor
has_related_synonym: premotor area
has_related_synonym: premotor cortex
has_related_synonym: premotor region
has_related_synonym: promotor cortex
has_related_synonym: secondary motor areas
has_related_synonym: secondary motor cortex
has_related_synonym: secondary somatomotor areas
id: UBERON:0016634
from ESSO: true

gray matter of forebrain
type: Class
subclass of: brain gray matter
imported from: uberon.owl
database_cross_reference: DHBA:10157
database_cross_reference: FMA:268608
has_obo_namespace: uberon
id: UBERON:0019264

commissure of telencephalon
type: Class
subclass of: brain commissure
imported from: uberon.owl
database_cross_reference: HBA:9220
alternative_term: telencephalic commissures
has_obo_namespace: uberon
id: UBERON:0019294

occipital sulcus
type: Class
subclass of: sulcus of brain
imported from: uberon.owl
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C1518530
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/314148004
database_cross_reference: HBA:9386
database_cross_reference: NCIT:C33196
alternative_term: occipital lobe sulcus
has_obo_namespace: uberon
id: UBERON:0019303

nervous system cell part layer
type: Class
subclass of: multi cell part structure
definition: Single layer of a laminar structure, identified by different density, arrangement or size of cells and processes arranged in flattened layers or lamina[CUMBO].
editor note: this is currently used to group some cellular layers that may not strictly conform to the CARO definition of cell-part layer. Consider genericisizing and introducing subtypes for cellular layer, fibrous layer and cell soma layer
imported from: uberon.owl
has_broad_synonym: lamina
has_broad_synonym: layer
database_cross_reference: NLX:149357
has_obo_namespace: uberon
id: UBERON:0022303
in subset: cumbo

composite part spanning multiple base regional parts of brain
type: Class
subclass of: anatomical collection
imported from: uberon.owl
database_cross_reference: BIRNLEX:1304
alternative_term: composite part spanning multiple base regional parts of brain
has_obo_namespace: uberon
id: UBERON:0022776

tegmentum
type: Class
subclass of: composite part spanning multiple base regional parts of brain
definition: The ventral topographic division of the midbrain; the dorsal topographic division is the tectum. Meckel (1817; see English translation, 1832, vol. 2, p. 467) apparently introduced the term and roughly its definition here for macrodissected adult humans, except he excluded the cerebral peduncle (Tarin, 1753), a white matter tract at the base of the midbrain, which is still common today but is included here. As defined here, tegmentum refers to the whole of the midbrain (Baer, 1837) excluding the tectum but including the pretectal region (Scalia, 1972); see Swanson (2000, pp. 522, 526). Usage of this term is very complex, inconsistent, and illogical; see for example Crosby et al. (1962, pp. 221, 260, 262), Carpenter (1976, p. 367 ff.).
imported from: uberon.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/3987648
database_cross_reference: Tegmentum
database_cross_reference: BIRNLEX:1031
alternative_term: tegmentum
has_obo_namespace: uberon
id: UBERON:0024151
from pub med: true

superior calcarine sulcus
type: Class
subclass of: occipital sulcus
imported from: uberon.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26063964
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: http://linkedlifedata.com/resource/umls/id/C0262333
database_cross_reference: BIRNLEX:4014
has definition: The term superior calcarine sulcus refers to one of two extensions of the calcarine sulcus where it splits into two short vertically oriented branches near the occipital pole. This is the dorsally curved superior branch; the other is a symmetrical, ventrally curved inferior calcarine sulcus.
alternative_term: superior calcarine sulcus
has_obo_namespace: uberon
has_related_synonym: sulcus calcarinus superior
has_related_synonym: superior ramus of calcarine fissure
has_related_synonym: upper calcarine sulcus
id: UBERON:0025096
from pub med: true

Axiom
annotated source: superior calcarine sulcus
annotated property: hasDefinition
annotated target: The term superior calcarine sulcus refers to one of two extensions of the calcarine sulcus where it splits into two short vertically oriented branches near the occipital pole. This is the dorsally curved superior branch; the other is a symmetrical, ventrally curved inferior calcarine sulcus.

primary auditory cortex
type: Class
subclass of: regional part of brain
definition: The part of the auditory cortex that is located on the superior temporal gyrus in the temporal lobe and receives point-to-point input from the ventral division of the medial geniculate complex.
imported from: uberon.owl
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Primary auditory cortex
database_cross_reference: DHBA:10236
database_cross_reference: FMA:272953
alternative_term: primary auditory cortex (core)
has_obo_namespace: uberon
has_related_synonym: A1C
has_related_synonym: auditory complex area A1
has_related_synonym: auditory core region
has_related_synonym: primary auditory area
has_related_synonym: primary auditory cortex
id: UBERON:0034751
from ESSO: true

secondary auditory cortex
type: Class
subclass of: regional part of brain
definition: The part of the auditory cortex that receive more diffuse input from the belt areas of the medial geniculate complex.
imported from: uberon.owl
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/11377839
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: DHBA:10239
database_cross_reference: FMA:272944
alternative_term: belt auditory area
alternative_term: peripheral auditory cortex
alternative_term: second auditory area
alternative_term: secondary auditory cortex (belt, area 42)
has_obo_namespace: uberon
has_related_synonym: A42
has_related_synonym: belt area of auditory complex
has_related_synonym: second auditory area
has_related_synonym: second auditory cortex
id: UBERON:0034752
from pub med: true

morphological feature
type: Class
subclass of: anatomical structure
definition: A part of an organism or organ that is continuous with its surroundings and distinguished from its surroundings based on morphology.
imported from: uberon.owl
has_obo_namespace: uberon
id: UBERON:0034768

anatomical collection
type: Class
subclass of: material anatomical entity
definition: A collection of anatomical structures that are alike in terms of their morphology or developmental origin.
editor note: resolve if this should be a subclass of disconnected anatomical group. Some collections (e.g. the skeleton or skull) are arguably connected
imported from: uberon.owl
has_obo_namespace: uberon
id: UBERON:0034925

zone of organ
type: Class
subclass of: organ part
imported from: uberon.owl
database_cross_reference: FMA:55268
alternative_term: organ sector
alternative_term: organ zonal region
alternative_term: organ zone
has_obo_namespace: uberon
has_related_synonym: organ region with floating fiat boundary
id: UBERON:0034944

functional part of brain
type: Class
subclass of: regional part of brain
definition: A brain region defined by functional criteria, e.g. auditory cortex, rather than by structural or histological criteria.
imported from: uberon.owl
database_cross_reference: NLX:155513
has_obo_namespace: uberon
id: UBERON:0035014

sulcus of parietal lobe
type: Class
subclass of: sulcus of brain
imported from: uberon.owl
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/314145001
database_cross_reference: HBA:9370
alternative_term: parietal lobe sulci
alternative_term: parietal lobe sulcus
has_obo_namespace: uberon
has_related_synonym: PLs
id: UBERON:0035927

paracentral lobule
type: Class
subclass of: gyrus
definition: The junction of the precentral gyrus and postcentral gyrus on the medial surface of the cerebral cortex. It lies across the boundary between the frontal lobe and the parietal lobe.
imported from: uberon.owl
database_cross_reference: http://braininfo.rprc.washington.edu/centraldirectory.aspx
database_cross_reference: Paracentral lobule
database_cross_reference: http://www.snomedbrowser.com/Codes/Details/279202002
database_cross_reference: BTO:0005601
database_cross_reference: FMA:77534
database_cross_reference: RadLex:RID6449
database_cross_reference: Talairach:1047
alternative_term: lobulus paracentralis
has_obo_namespace: uberon
id: UBERON:0035933
from article: true
from ESSO: true

neuroimaging measurement
type: Class
subclass of: clinical measurement
subclass of: Restriction
  some values from: epilepsy
definition: Non-invasive methods of visualizing and measuring the CENTRAL NERVOUS SYSTEM, especially the brain, by various imaging modalities e.g. CT scan
definition editor: Dani Welter
imported from: efo.owl
gwas trait: true
alternative_term: brain imaging
comment: is about MSH:D059906

brain connectivity measurement
type: Class
subclass of: neuroimaging measurement
definition: quantification of the pattern of links between distinct units within a nervous system through neuroimaging techniques such a MRI
definition editor: Dani Welter
imported from: efo.owl
gwas trait: true

Zung self-rating anxiety scale
type: Class
subclass of: Research or Clinical Assessment Tool
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/18209276
has definition: The Zung Self-Rating Anxiety Scale (SAS) is a method of measuring levels of anxiety in patients who have anxiety-related symptoms. The scale focuses on the most common general anxiety disorders; coping with stress typically causes anxiety. The SAS test is self-administered, with each response using a 4-point scale, from ‘none of the time” to “most of the time.” There are 20 questions with 15 increasing anxiety level questions and 5 decreasing anxiety questions. There are two formats, self-evaluations and clinical evaluations.
alternative_term: self-rating anxiety scale
from pub med: true

Axiom
annotated source: Zung self-rating anxiety scale
annotated property: hasDefinition
annotated target: The Zung Self-Rating Anxiety Scale (SAS) is a method of measuring levels of anxiety in patients who have anxiety-related symptoms. The scale focuses on the most common general anxiety disorders; coping with stress typically causes anxiety. The SAS test is self-administered, with each response using a 4-point scale, from ‘none of the time” to “most of the time.” There are 20 questions with 15 increasing anxiety level questions and 5 decreasing anxiety questions. There are two formats, self-evaluations and clinical evaluations.

risk factor TM_BIN
type: Class
equivalent class: Restriction
  on property: isRiskFactorFor
  some values from: epilepsy
description: The 'risk factor TM_BIN' concept enables a compilation of diverse concepts that are related to risk factors in Epilepsy via the Axiome 'isRiskFactorFor some epilepsy'. Thus enables the adaptation of the ontology for text mining purposes for Epilepsy related information retrieval and information extraction.

diagnosis TM_BIN
type: Class
equivalent class: Restriction
  on property: isDiagnosisFor
  some values from: epilepsy
description: The 'diagnosis TM_BIN' concept enables a compilation of diverse concepts that are related to diagnosis in Epilepsy via the Axiome 'isDiagnosisFor some epilepsy'. Thus enables the adaptation of the ontology for text mining purposes for Epilepsy related information retrieval and information extraction.

sign and symptom TM_BIN
type: Class
equivalent class: Restriction
  on property: isSignAndSymptomFor
  some values from: epilepsy
description: The 'sign and symptom TM_BIN' concept enables a compilation of diverse concepts that are related to signs and symptoms in Epilepsy via the Axiome 'isSignAndSymptomsFor some epilepsy'. Thus enables the adaptation of the ontology for text mining purposes for Epilepsy related information retrieval and information extraction.

epilepsy syndrome TM_BIN
type: Class
equivalent class: Restriction
  on property: isSyndromeFor
  some values from: epilepsy
description: The 'epilepsy syndrome TM_BIN' concept enables a compilation of diverse concepts that are related to syndromes in Epilepsy via the Axiome 'isSyndromeFor some epilepsy'. Thus enables the adaptation of the ontology for text mining purposes for Epilepsy related information retrieval and information extraction.

epilepsy imitator TM_BIN
type: Class
equivalent class: Restriction
  on property: isImitatorFor
  some values from: epilepsy
description: The 'epilepsy imitator TM_BIN' concept enables a compilation of diverse concepts that are related to imitators of Epilepsy via the Axiome 'isImitatorFor some epilepsy'. Thus enables the adaptation of the ontology for text mining purposes for Epilepsy related information retrieval and information extraction.

etiology TM_BIN
type: Class
equivalent class: Restriction
  on property: isEtiologyFor
  some values from: epilepsy
description: The 'etiology TM_BIN' concept enables a compilation of diverse concepts that are related to the etiology of Epilepsy via the Axiome 'isEtiologyFor some epilepsy'. Thus enables the adaptation of the ontology for text mining purposes for Epilepsy related information retrieval and information extraction.

seizure classification TM_BIN
type: Class
equivalent class: Restriction
  on property: isSeizureClassificationFor
  some values from: epilepsy
description: The 'seizure classification TM_BIN' concept enables a compilation of diverse concepts that are related to seizure classification in Epilepsy via the Axiome 'isSeizureClassificationFor some epilepsy'. Thus enables the adaptation of the ontology for text mining purposes for Epilepsy related information retrieval and information extraction.

treatment TM_BIN
type: Class
equivalent class: Restriction
  on property: isTreatmentFor
  some values from: epilepsy
description: The 'treatment TM_BIN' concept enables a compilation of diverse concepts that are related to treatment of Epilepsy via the Axiome 'isTreatmentFor some epilepsy'. Thus enables the adaptation of the ontology for text mining purposes for Epilepsy related information retrieval and information extraction.

anatomical entity TM_BIN
type: Class
equivalent class: Restriction
  on property: isAnatomicalEntityFor
  some values from: epilepsy
description: The 'anatomical entity TM_BIN' concept enables a compilation of diverse concepts that are related to anatomical entities in Epilepsy via the Axiome 'isAnatomicalEntityFor some epilepsy'. Thus enables the adaptation of the ontology for text mining purposes for Epilepsy related information retrieval and information extraction.

cellular process TM_BIN
type: Class
equivalent class: Restriction
  on property: isCellularProcessFor
  some values from: epilepsy
description: The 'cellular process TM_BIN' concept enables a compilation of diverse concepts that are related to cellular processes in Epilepsy via the Axiome 'isAnatomicalEntityFor some epilepsy'. Thus enables the adaptation of the ontology for text mining purposes for Epilepsy related information retrieval and information extraction.

connectivity
type: Class
subclass of: generically dependent continuant

functional connectivity
type: Class
subclass of: connectivity
subclass of: Restriction
  some values from: epilepsy

brain functional connectivity
type: Class
subclass of: functional connectivity
definition: Functional connectivity is defined as the temporal dependency of neuronal activation patterns of anatomically separated brain regions.

brain connectivity
type: Class
subclass of: connectivity
subclass of: Restriction
  some values from: epilepsy

seizure event
type: Class
subclass of: Event

seizure network
type: Class
subclass of: Neural Network

epileptic seizure network
type: Class
subclass of: seizure network

brain functional connectivity network
type: Class
subclass of: Neural Network

functional connectivity measure
type: Class
subclass of: data item
subclass of: Restriction
  some values from: epilepsy

global connectivity measure
type: Class
subclass of: data item
subclass of: Restriction
  some values from: epilepsy

brain functional connectivity measure
type: Class
subclass of: functional connectivity measure

pre-ictal
type: Class
subclass of: physiological state
subclass of: Restriction
  some values from: epilepsy
definition source: https://pubmed.ncbi.nlm.nih.gov/21447894/
has exact synonym: preictal
definition: Preictal psychiatric symptoms usually consist of cluster of symptoms preceding seizures of variable duration, ranging from a few minutes up to three days.

stereotactic electroencephalogaphy
type: Class
subclass of: electroencephalography
definition source: https://pubmed.ncbi.nlm.nih.gov/32174810/
has exact synonym: stereotactic EEG
definition: Stereotactic electroencephalogaphy (sEEG) utilizes localized, penetrating depth electrodes to measure electrophysiological brain activity.

inter-ictal
type: Class
subclass of: physiological state
subclass of: Restriction
  some values from: epilepsy
definition source: https://pubmed.ncbi.nlm.nih.gov/21447894/
has exact synonym: interictal
definition: Patients with epilepsy may experience psychiatric symptoms preceding the seizure (preictal), following the seizure (postictal), independently of seizure occurrence (interictal), or as an expression of the seizure (ictal).

intracranial electrode
type: Class
subclass of: Electrode Device
definition source: https://pubmed.ncbi.nlm.nih.gov/22460695/
definition: The intracranial electrode is used for interacranial monitoring: depth electrodes, subdural strip electrodes, and subdural grid electrodes.

automotor seizure
type: Class
subclass of: Motor seizure
definition: Automotor seizures are complex motor seizures characterized primarily by automatisms of the distal segments of body, including in particular the fingers, hands, tongue and lips.

multi-contact electrode
type: Class
subclass of: Electrode Device

AMPA receptor antibody
type: Class
subclass of: antibody mediated epilepsy
has definition: AMPA receptor antibodies may present with limbic encephalitis and are most commonly found in older patients in association with cancers of the thymus, breast or lung. Diagnosis is supported by identification of AMPA receptor antibody in serum. Given the risk of cancer, this should be excluded.
from ILAE: true

Axiom
annotated source: AMPA receptor antibody
annotated property: hasDefinition
annotated target: AMPA receptor antibodies may present with limbic encephalitis and are most commonly found in older patients in association with cancers of the thymus, breast or lung. Diagnosis is supported by identification of AMPA receptor antibody in serum. Given the risk of cancer, this should be excluded.

Atkins diet
type: Class
subclass of: Diet Therapy
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29960852
has definition: The Atkins diet is a low-carb diet, usually recommended for weight loss.
from pub med: true

Axiom
annotated source: Atkins diet
annotated property: hasDefinition
annotated target: The Atkins diet is a low-carb diet, usually recommended for weight loss.

El mouse
type: Class
subclass of: Transgenic Model
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/11684349
has definition: El mouse is a model of hereditary sensory precipitated temporal lobe epilepsy. All adult El mice given rhythmic vestibular stimulation (e.g. tossing, rocking) during development will experience tonic-clonic convulsions when given similar stimulation as adults.
alternative_term: El mice
from pub med: true

Axiom
annotated source: El mouse
annotated property: hasDefinition
annotated target: El mouse is a model of hereditary sensory precipitated temporal lobe epilepsy. All adult El mice given rhythmic vestibular stimulation (e.g. tossing, rocking) during development will experience tonic-clonic convulsions when given similar stimulation as adults.

GABA-B receptor antibody
type: Class
subclass of: antibody mediated epilepsy
has definition: GABA-B receptor antibodies may present with limbic encephalitis and are most commonly found in adults with small cell lung cancer. Diagnosis is supported by identification of GABA-B receptor antibody in serum.
from ILAE: true

Axiom
annotated source: GABA-B receptor antibody
annotated property: hasDefinition
annotated target: GABA-B receptor antibodies may present with limbic encephalitis and are most commonly found in adults with small cell lung cancer. Diagnosis is supported by identification of GABA-B receptor antibody in serum.

GAD65 antibody
type: Class
subclass of: antibody mediated epilepsy
has definition: Low titers of GAD65 are commonly seen as a marker of thyrogastric autoimmunity and are not concerning for neurological disease. Very high titers (>20 nmol/l in serum) can be associated with variable neurological symptoms including limbic encephalitis. Diagnosis is supported by identification of GAD65 antibody in serum.
from ILAE: true

Axiom
annotated source: GAD65 antibody
annotated property: hasDefinition
annotated target: Low titers of GAD65 are commonly seen as a marker of thyrogastric autoimmunity and are not concerning for neurological disease. Very high titers (>20 nmol/l in serum) can be associated with variable neurological symptoms including limbic encephalitis. Diagnosis is supported by identification of GAD65 antibody in serum.

International League Against Epilepsy classification
type: Class
subclass of: Research or Clinical Assessment Tool
has definition: The International League Against Epilepsy (ILAE) presents a revised operational classification of seizure types. The purpose of such a revision is to recognize that some seizure types can have either a focal or generalized onset, to allow classification when the onset is unobserved, to include some missing seizure types, and to adopt more transparent names.
alternative_term: ILAE classification

Axiom
annotated source: International League Against Epilepsy classification
annotated property: hasDefinition
annotated target: The International League Against Epilepsy (ILAE) presents a revised operational classification of seizure types. The purpose of such a revision is to recognize that some seizure types can have either a focal or generalized onset, to allow classification when the onset is unobserved, to include some missing seizure types, and to adopt more transparent names.

K complex
type: Class
subclass of: normal EEG pattern
has definition: A burst of somewhat variable appearance, consisting most commonly of a high voltage negative slow wave followed by a smaller positive slow wave frequently associated with a sleep spindle. Amplitude is generally maximal in the frontal vertex. K complexes occur during non- REM sleep, apparently spontaneously, or in response to sudden sensory stimuli, and are not specific for any individual sensory modality.
from ESSO: true

Axiom
annotated source: K complex
annotated property: hasDefinition
annotated target: A burst of somewhat variable appearance, consisting most commonly of a high voltage negative slow wave followed by a smaller positive slow wave frequently associated with a sleep spindle. Amplitude is generally maximal in the frontal vertex. K complexes occur during non- REM sleep, apparently spontaneously, or in response to sudden sensory stimuli, and are not specific for any individual sensory modality.

N-methyl-DL-aspartate model
type: Class
subclass of: convulsant drug model
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/1834893
has definition: A seizure model involving slow intravenous infusion of the excitatory amino acid N-methyl-DL-aspartate (NMDLA) in the mouse, eliciting tonic-clonic seizure in dose-depended manner.
comment on definition: Modified definition
from pub med: true

Panayiotopoulos syndrome
type: Class
subclass of: childhood-onset epilepsy syndrome
has definition: Panayiotopoulos syndrome is characterized by the onset in early childhood of focal autonomic seizures that are often prolonged. The EEG commonly shows high amplitude focal spikes and may be activated by sleep. Seizures are infrequent in most patients, with 25% only having a single seizure (which may be autonomic status epilepticus) and 50% having six seizures or less. Seizures are self-limiting with remission typically within a few years from onset.
from pub med: true

Axiom
annotated source: Panayiotopoulos syndrome
annotated property: hasDefinition
annotated target: Panayiotopoulos syndrome is characterized by the onset in early childhood of focal autonomic seizures that are often prolonged. The EEG commonly shows high amplitude focal spikes and may be activated by sleep. Seizures are infrequent in most patients, with 25% only having a single seizure (which may be autonomic status epilepticus) and 50% having six seizures or less. Seizures are self-limiting with remission typically within a few years from onset.

SCN8A-related epilepsy with encephalopathy
type: Class
subclass of: syndrome
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/25568300
has definition: SCN8A-related epilepsy with encephalopathy is a condition characterized by recurrent seizures (epilepsy), abnormal brain function (encephalopathy), and intellectual disability. The signs and symptoms of this condition typically begin in infancy.The seizures in SCN8A-related epilepsy with encephalopathy include involuntary muscle contractions that occur before age 1 (infantile spasms), partial or complete loss of consciousness (absence seizures), involuntary muscle twitches (myoclonic seizures), or loss of consciousness with muscle rigidity and convulsions (tonic-clonic seizures). Most people with SCN8A-related epilepsy with encephalopathy have more than one type of seizure.
alternative_term: SCN8A-Related Epilepsy syndromes Class
from pub med: true

Axiom
annotated source: SCN8A-related epilepsy with encephalopathy
annotated property: hasDefinition
annotated target: SCN8A-related epilepsy with encephalopathy is a condition characterized by recurrent seizures (epilepsy), abnormal brain function (encephalopathy), and intellectual disability. The signs and symptoms of this condition typically begin in infancy.The seizures in SCN8A-related epilepsy with encephalopathy include involuntary muscle contractions that occur before age 1 (infantile spasms), partial or complete loss of consciousness (absence seizures), involuntary muscle twitches (myoclonic seizures), or loss of consciousness with muscle rigidity and convulsions (tonic-clonic seizures). Most people with SCN8A-related epilepsy with encephalopathy have more than one type of seizure.

subclinical rhythmical discharge of adults
type: Class
subclass of: rhythmic benign variant
has definition: Subclinical rhythmic non-epileptiform electrographic discharges in adults (SREDA) consists of mixed-frequency components in the delta and theta frequency ranges that evolve into a rhythmic pattern consisting of sharp-contoured components of 5-7 Hz.
alternative_term: SREDA

Axiom
annotated source: subclinical rhythmical discharge of adults
annotated property: hasDefinition
annotated target: Subclinical rhythmic non-epileptiform electrographic discharges in adults (SREDA) consists of mixed-frequency components in the delta and theta frequency ranges that evolve into a rhythmic pattern consisting of sharp-contoured components of 5-7 Hz.

V wave
type: Class
subclass of: normal EEG pattern
has definition: Vertex sharp transient.
from ESSO: true

Axiom
annotated source: V wave
annotated property: hasDefinition
annotated target: Vertex sharp transient.

Wada test
type: Class
subclass of: neuropsychological testing
subclass of: Restriction
  on property: isDiagnosisFor
  some values from: epilepsy
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/31044310
has definition: The Wada test, also known as the Intracarotid Amobarbital Procedure (IAP), was named after Dr. Juhn Wada. He developed the combination of neuro-imaging and neuropsychological testing methods to examine independent functions of the brain such as memory and language. It is useful in determining which hemisphere is “dominant” for speech and if memory is functional on one or both sides of the brain.
alternative_term: Intracarotid Amobarbital Procedure
from pub med: true

Axiom
annotated source: Wada test
annotated property: hasDefinition
annotated target: The Wada test, also known as the Intracarotid Amobarbital Procedure (IAP), was named after Dr. Juhn Wada. He developed the combination of neuro-imaging and neuropsychological testing methods to examine independent functions of the brain such as memory and language. It is useful in determining which hemisphere is “dominant” for speech and if memory is functional on one or both sides of the brain.

absence seizure model
type: Class
subclass of: Transgenic Model
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/25228809
has definition: Absence seizures are characterized by usually brief (5–10 seconds), nonconvulsive episodes of behavioral arrest and apparent unconsciousness. The WAG/Rij strain can be used as an audiogenic seizure model, it is better known as a genetic model of absence seizures.
comment on definition: Modified definition
from pub med: true

adversive movement
type: Class
subclass of: Versive seizures
has definition: A rotation of the eyes, head, or trunk about the long axis of the body
from ESSO: true

Axiom
annotated source: adversive movement
annotated property: hasDefinition
annotated target: A rotation of the eyes, head, or trunk about the long axis of the body

afterdischarges model
type: Class
subclass of: Rodent Model of Disease
has definition: The single-evoked epileptic afterdischarges model (AD) is another important approach to electrical stimulation. It is induced in specific brain regions, resembling complex partial seizures if applied into limbic structures and myoclonic seizures if applied into the sensorimotor cortex. AD is useful for investigating electrophysiological and behavioral correlates of focally generated seizure-like patterns that often spread to nonstimulated networks
from ESSO: true

Axiom
annotated source: afterdischarges model
annotated property: hasDefinition
annotated target: The single-evoked epileptic afterdischarges model (AD) is another important approach to electrical stimulation. It is induced in specific brain regions, resembling complex partial seizures if applied into limbic structures and myoclonic seizures if applied into the sensorimotor cortex. AD is useful for investigating electrophysiological and behavioral correlates of focally generated seizure-like patterns that often spread to nonstimulated networks

allylglycine model
type: Class
subclass of: convulsant drug model
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/25845493
has definition: In allylglycine model , DL-allylglycine inhibits glutamic acid decarboxylase (GAD) - the key enzyme in γ-aminobutyric acid (GABA) biosynthesis - leading to GABA depletion, seizures, and neuronal damage.
comment on definition: Modified definition
from pub med: true

alpha coma
type: Class
subclass of: special pattern
has definition: Alpha coma / Alpha stupor (AS) refers to EEG of a comatose/stuporous patient in which alpha activity predominates.
alternative_term: alpha stupor

Axiom
annotated source: alpha coma
annotated property: hasDefinition
annotated target: Alpha coma / Alpha stupor (AS) refers to EEG of a comatose/stuporous patient in which alpha activity predominates.

alpha rhythm
type: Class
subclass of: normal EEG pattern
has db x ref: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5603104/
has definition: Alpha rhythm is the initial starting point for visual analysis of EEG, originates from occipital region of brain and has a frequency of 8 to 13 Hertz in adults
from pub med: true

Axiom
annotated source: alpha rhythm
annotated property: hasDefinition
annotated target: Alpha rhythm is the initial starting point for visual analysis of EEG, originates from occipital region of brain and has a frequency of 8 to 13 Hertz in adults

alpha variant
type: Class
subclass of: rhythmic benign variant
has definition: Alpha variant consists of activity over the posterior head regions that have a harmonic relationship to the alpha rhythm and show similar activity and distribution.

Axiom
annotated source: alpha variant
annotated property: hasDefinition
annotated target: Alpha variant consists of activity over the posterior head regions that have a harmonic relationship to the alpha rhythm and show similar activity and distribution.

aluminum encephalopathy syndrome
type: Class
subclass of: kidney disease
has definition: Aluminum encephalopathy syndrome is a progressive encephalopathy of infants and children with chronic renal insufficiency who have taken aluminum-containing products such as phosphate binders for several years.
alternative_term: encephalopathy aluminum
from article: true

Axiom
annotated source: aluminum encephalopathy syndrome
annotated property: hasDefinition
annotated target: Aluminum encephalopathy syndrome is a progressive encephalopathy of infants and children with chronic renal insufficiency who have taken aluminum-containing products such as phosphate binders for several years.

ambulatory electroencephalography
type: Class
subclass of: electroencephalography
has definition: An ambulatory EEG is where brain activity is recorded throughout the day and night over a period of one or more days. The electrodes will be attached to a small portable EEG recorder that can be clipped onto clothing.
alternative_term: Portable EEG
alternative_term: ambulatory EEG
from article: true

Axiom
annotated source: ambulatory electroencephalography
annotated property: hasDefinition
annotated target: An ambulatory EEG is where brain activity is recorded throughout the day and night over a period of one or more days. The electrodes will be attached to a small portable EEG recorder that can be clipped onto clothing.

amgdalar epilepsy
type: Class
subclass of: temporal lobe epilepsy
has definition: Temporal lobe epilepsy with amygdala enlargement (TLE-AE) is increasingly recognized as a distinct adult electroclinical syndrome of heterogeneous aetiology. It is often associated with autoantibody (aab)-positive limbic encephalitis (LE) but also occurs as a (yet) aab-negative condition sometimes associated with focal cortical dysplasias or tumors of the amygdala.

Axiom
annotated source: amgdalar epilepsy
annotated property: hasDefinition
annotated target: Temporal lobe epilepsy with amygdala enlargement (TLE-AE) is increasingly recognized as a distinct adult electroclinical syndrome of heterogeneous aetiology. It is often associated with autoantibody (aab)-positive limbic encephalitis (LE) but also occurs as a (yet) aab-negative condition sometimes associated with focal cortical dysplasias or tumors of the amygdala.

amnestic seizure
type: Class
subclass of: special seizure
has definition: Pure amnestic seizures are defined as seizures during which the only clinical manifestation is the patients' inability to retain in memory what occurs during the seizure coupled with the preservation of other cognitive functions and the ability to interact normally with their physical and social environment. It is postulated that PAS result from selective ictal inactivation of mesial temporal (MT) structures without isocortical involvement.

Axiom
annotated source: amnestic seizure
annotated property: hasDefinition
annotated target: Pure amnestic seizures are defined as seizures during which the only clinical manifestation is the patients' inability to retain in memory what occurs during the seizure coupled with the preservation of other cognitive functions and the ability to interact normally with their physical and social environment. It is postulated that PAS result from selective ictal inactivation of mesial temporal (MT) structures without isocortical involvement.

amygdala kindling
type: Class
subclass of: pharmacoresistant epilepsy model
has definition: Amygdala kindling is a model of temporal lobe epilepsy (TLE) with convulsion. The rapid amygdala kindling has an advantage on quick development of motor seizures and for antiepileptic drugs screening.
from pub med: true

Axiom
annotated source: amygdala kindling
annotated property: hasDefinition
annotated target: Amygdala kindling is a model of temporal lobe epilepsy (TLE) with convulsion. The rapid amygdala kindling has an advantage on quick development of motor seizures and for antiepileptic drugs screening.

anatomic neuroimaging
type: Class
subclass of: Neuroimaging
has definition: Use of neuroimaging technology to measure the aspect of brain anatomy, including the integrity of brain structures and their interconnections.
comment on definition: modified definition
from ESSO: true

anterior cingulate epilepsy
type: Class
subclass of: cingulate epilepsy
has definition: Anterior cingulate epilepsy is a diagnostic and therapeutic challenge, with a broad range of nonspecific symptoms. Seizures can arise from any region of the anterior cingulate cortex (ACC) and manifest distinctive features based on the area of onset and pattern of spread.

Axiom
annotated source: anterior cingulate epilepsy
annotated property: hasDefinition
annotated target: Anterior cingulate epilepsy is a diagnostic and therapeutic challenge, with a broad range of nonspecific symptoms. Seizures can arise from any region of the anterior cingulate cortex (ACC) and manifest distinctive features based on the area of onset and pattern of spread.

anterior frontopolar cortex
type: Class
subclass of: cerebral cortex
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/21532379
has definition: Frontopolar cortex (FPC) is a large region occupying the anterior portion of the brain’s frontal lobe, and has been suggested to play a role in complex, higher order behavior.
from ESSO: true
from pub med: true

Axiom
annotated source: anterior frontopolar cortex
annotated property: hasDefinition
annotated target: Frontopolar cortex (FPC) is a large region occupying the anterior portion of the brain’s frontal lobe, and has been suggested to play a role in complex, higher order behavior.

anterior temporal epilepsy
type: Class
subclass of: temporal lobe epilepsy
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/9932952
has definition: Epilepsy characterized by seizures arising from abnormalities in anterior temporal lobe of brain
comment on definition: modified definition

anteromesial temporal lobectomy
type: Class
subclass of: surgical procedure
has definition: Anteromesial temporal lobectomy (AMTL) is the most commonly performed surgical procedure for the treatment of patients with medically refractory epilepsy

Axiom
annotated source: anteromesial temporal lobectomy
annotated property: hasDefinition
annotated target: Anteromesial temporal lobectomy (AMTL) is the most commonly performed surgical procedure for the treatment of patients with medically refractory epilepsy

artifact obscured EEG
type: Class
subclass of: Interictal EEG abnormality
has definition: Artifact-obscured EEG refers to an ictal record that is obscured by artifacts, thereby making its interpretation difficult or impossible.

Axiom
annotated source: artifact obscured EEG
annotated property: hasDefinition
annotated target: Artifact-obscured EEG refers to an ictal record that is obscured by artifacts, thereby making its interpretation difficult or impossible.

asymmetry pattern
type: Class
subclass of: special pattern
has definition: Asymmetry refers exclusively to amplitude differences of physiological EEG activity between the two hemispheres.

Axiom
annotated source: asymmetry pattern
annotated property: hasDefinition
annotated target: Asymmetry refers exclusively to amplitude differences of physiological EEG activity between the two hemispheres.

audiogenic model
type: Class
subclass of: Transgenic Model
has definition: Audiogenic models of epilepsy have been used not only for reflex epilepsy and TLE studies but also to characterize comorbidities associated with the epilepsies.
from pub med: true

Axiom
annotated source: audiogenic model
annotated property: hasDefinition
annotated target: Audiogenic models of epilepsy have been used not only for reflex epilepsy and TLE studies but also to characterize comorbidities associated with the epilepsies.

auditory illusion
type: Class
subclass of: neurological and physiological symptom
has definition: Auditory illusions are false perceptions of a real external stimulus, for example a change in intensity or a duplication of the stimulus
from ESSO: true

Axiom
annotated source: auditory illusion
annotated property: hasDefinition
annotated target: Auditory illusions are false perceptions of a real external stimulus, for example a change in intensity or a duplication of the stimulus

autoimmune epilepsy
type: Class
subclass of: disease
has definition: The autoimmune epilepsies are immunologically mediated disorders in which recurrent seizures are a primary and persistent clinical feature. Autoimmune epilepsy are characterized by seizures which are a common manifestation of autoimmune limbic encephalitis and multifocal paraneoplastic disorders
from pub med: true

Axiom
annotated source: autoimmune epilepsy
annotated property: hasDefinition
annotated target: The autoimmune epilepsies are immunologically mediated disorders in which recurrent seizures are a primary and persistent clinical feature. Autoimmune epilepsy are characterized by seizures which are a common manifestation of autoimmune limbic encephalitis and multifocal paraneoplastic disorders

autoimmune seizure
type: Class
subclass of: seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30714986
has definition: Autoimmune disorders have long been recognized as potential causes of seizures. In the extreme, autoimmune mechanisms can lead to limbic encephalitis, an acute disorder. Patients with such disorders may respond to immunosuppressant therapies.
from pub med: true

Axiom
annotated source: autoimmune seizure
annotated property: hasDefinition
annotated target: Autoimmune disorders have long been recognized as potential causes of seizures. In the extreme, autoimmune mechanisms can lead to limbic encephalitis, an acute disorder. Patients with such disorders may respond to immunosuppressant therapies.

autonomic imbalance
type: Class
subclass of: nervous system symptom
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30139784
has definition: Autonomic dysfunction was manifested by: the observation that autonomic cardiac nerves did not always respond in a predictable manner to changes in blood pressure; the development of a marked increase in variability in mean autonomic cardiac sympathetic and parasympathetic neural discharge.
from pub med: true

Axiom
annotated source: autonomic imbalance
annotated property: hasDefinition
annotated target: Autonomic dysfunction was manifested by: the observation that autonomic cardiac nerves did not always respond in a predictable manner to changes in blood pressure; the development of a marked increase in variability in mean autonomic cardiac sympathetic and parasympathetic neural discharge.

autonomic status epilepsy
type: Class
subclass of: focal non convulsive status epilepticus
has definition: Autonomic status epilepticus is a condition lasting at least 30 minutes and characterized by epileptic activity causing altered autonomic function of any type at seizure onset or in which manifestations consistent with altered autonomic function are prominent even if not present at seizure onset.
from pub med: true

Axiom
annotated source: autonomic status epilepsy
annotated property: hasDefinition
annotated target: Autonomic status epilepticus is a condition lasting at least 30 minutes and characterized by epileptic activity causing altered autonomic function of any type at seizure onset or in which manifestations consistent with altered autonomic function are prominent even if not present at seizure onset.

autoregressive model
type: Class
subclass of: non-deterministic model
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28324947
has definition: AR model represents a class of linear predictive models in which the future outcome of the observed variable is predicted based on a linear combination of past outcomes and an independent identically distributed random variable.
from pub med: true

Axiom
annotated source: autoregressive model
annotated property: hasDefinition
annotated target: AR model represents a class of linear predictive models in which the future outcome of the observed variable is predicted based on a linear combination of past outcomes and an independent identically distributed random variable.

autosomal-dominant lateral temporal lobe epilepsy model
type: Class
subclass of: chemical mutagenesis derived model
has definition: Mutations of the leucine-rich glioma-inactivated 1 (LGI1) gene cause an autosomal dominant partial epilepsy with auditory features also known as autosomal dominant lateral temporal lobe epilepsy (ADLTE).
alternative_term: ADLTE
from pub med: true

Axiom
annotated source: autosomal-dominant lateral temporal lobe epilepsy model
annotated property: hasDefinition
annotated target: Mutations of the leucine-rich glioma-inactivated 1 (LGI1) gene cause an autosomal dominant partial epilepsy with auditory features also known as autosomal dominant lateral temporal lobe epilepsy (ADLTE).

background slow activity
type: Class
subclass of: EEG with abnormally slow frequencies
has definition: The frequency of the background rhythm is below the normal value.
from ESSO: true

Axiom
annotated source: background slow activity
annotated property: hasDefinition
annotated target: The frequency of the background rhythm is below the normal value.

background suppression
type: Class
subclass of: special pattern
has definition: Background suppression refers to activity which is less than 10µV.

Axiom
annotated source: background suppression
annotated property: hasDefinition
annotated target: Background suppression refers to activity which is less than 10µV.

basal temporal epilepsy
type: Class
subclass of: temporal lobe epilepsy
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/2345619
from pub med: true

benign EEG pattern
type: Class
subclass of: electroencephalography
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK390347/
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK390352/
has definition: benign electroencephalographic (EEG) patterns which are morphologically epileptiform but are non-epileptic.
from NCBI book: true

Axiom
annotated source: benign EEG pattern
annotated property: hasDefinition
annotated target: benign electroencephalographic (EEG) patterns which are morphologically epileptiform but are non-epileptic.

benign electroencephalographic pattern
type: Class
subclass of: abnormal brain wave pattern
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK390347/
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK390352/
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/20231918
has definition: EEG patterns which are morphologically epileptiform but are non-epileptic.
alternative_term: benign EEG pattern

benign focal epileptiform discharge of childhood
type: Class
subclass of: Interictal EEG abnormality
has definition: Benign focal epileptiform discharges of childhood refer to regional or multiregional sharp waves that are normally followed by a negative slow wave with lower amplitude than the negative peak of the sharp wave and ocassionally show a dipolar distribution.
alternative_term: BFEDC

Axiom
annotated source: benign focal epileptiform discharge of childhood
annotated property: hasDefinition
annotated target: Benign focal epileptiform discharges of childhood refer to regional or multiregional sharp waves that are normally followed by a negative slow wave with lower amplitude than the negative peak of the sharp wave and ocassionally show a dipolar distribution.

benign myoclonus of infancy and shuddering attack
type: Class
subclass of: Miscellaneous
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/11292215
has definition: Benign myoclonus of infancy and shuddering attacks are both benign (self limiting) variants of normal behaviour in infants and may be related conditions with differing durations of attacks. These attacks typically have onset from 4 months of age and can persist up to the age of 6-7 years, with a remitting and relapsing course.
from ILAE: true

Axiom
annotated source: benign myoclonus of infancy and shuddering attack
annotated property: hasDefinition
annotated target: Benign myoclonus of infancy and shuddering attacks are both benign (self limiting) variants of normal behaviour in infants and may be related conditions with differing durations of attacks. These attacks typically have onset from 4 months of age and can persist up to the age of 6-7 years, with a remitting and relapsing course.

benign neonatal sleep myoclonus
type: Class
subclass of: sleep disorder
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/15032388
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/16302879
has definition: Benign neonatal sleep myoclonus is a normal sleep phenomenon which can be very frequent in some infants leading to misdiagnosis as myoclonic seizures or generalized tonic-clonic seizures.
alternative_term: BNSM
alternative_term: Benign neonatal sleep myoclonus
from ILAE: true

Axiom
annotated source: benign neonatal sleep myoclonus
annotated property: hasDefinition
annotated target: Benign neonatal sleep myoclonus is a normal sleep phenomenon which can be very frequent in some infants leading to misdiagnosis as myoclonic seizures or generalized tonic-clonic seizures.

benign paroxysmal vertigo
type: Class
subclass of: migraine associated disorder
has definition: Benign paroxysmal vertigo is considered a migraine variant of childhood and is characterized by a subjective experience described by the child of the world spinning (vertigo).
from ILAE: true

Axiom
annotated source: benign paroxysmal vertigo
annotated property: hasDefinition
annotated target: Benign paroxysmal vertigo is considered a migraine variant of childhood and is characterized by a subjective experience described by the child of the world spinning (vertigo).

beta-carboline model
type: Class
subclass of: convulsant drug model
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/1396544
has definition: In this model, beta-carbolines induce clonic and tonic-clonic seizures follwing intrapritoneal or subcutaneous administration.
from pub med: true

beta activity
type: Class
subclass of: normal EEG pattern
has db x ref: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5603104/
has definition: Beta activity refers to activity with frequency range 13 to 30 Hz.
from pub med: true

Axiom
annotated source: beta activity
annotated property: hasDefinition
annotated target: Beta activity refers to activity with frequency range 13 to 30 Hz.

beta coma
type: Class
subclass of: special pattern
has definition: Beta coma (BC) / Beta stupor (BS) refers to predominance of beta activity with amplitudes higher than 30µV in a comatose/stuporous patient.
alternative_term: beta stupor

Axiom
annotated source: beta coma
annotated property: hasDefinition
annotated target: Beta coma (BC) / Beta stupor (BS) refers to predominance of beta activity with amplitudes higher than 30µV in a comatose/stuporous patient.

bicuculline model
type: Class
subclass of: convulsant drug model
has definition: As a GABA antagonist of the action of this neurotransmitter , bicuculline produces acute focus epileptic convulsions when administered systematically or when applied topically to rats.

Axiom
annotated source: bicuculline model
annotated property: hasDefinition
annotated target: As a GABA antagonist of the action of this neurotransmitter , bicuculline produces acute focus epileptic convulsions when administered systematically or when applied topically to rats.

bifocal encephalomalacia
type: Class
subclass of: brain disease

bilateral periodic lateralized epileptiform discharge
type: Class
subclass of: Interictal EEG abnormality
has definition: In bi-PLEDs, periodic or semi-periodic sharp waves occur in both hemispheres but do so asynchronously between the two hemispheres
alternative_term: Bi-PLED

Axiom
annotated source: bilateral periodic lateralized epileptiform discharge
annotated property: hasDefinition
annotated target: In bi-PLEDs, periodic or semi-periodic sharp waves occur in both hemispheres but do so asynchronously between the two hemispheres

biotinidase and holocarboxylase synthase deficiency
type: Class
subclass of: metabolic etiology
has definition: In biotinidase deficiency, the endogenous recycling of biotin is impaired. Epilepsy is frequent, often starting after the first 3 or 4 months of life, and often as epileptic spasms; optic atrophy and hearing loss are also often seen. Clues to the diagnosis are alopecia and dermatitis. The refractory seizures respond promptly to small doses of biotin. In holocarboxylase synthase deficiency, symptoms start during the neonatal period. Seizures are less frequent, occurring in 25-50% of all children. Biotin also is effective in this disorder.
from ILAE: true

Axiom
annotated source: biotinidase and holocarboxylase synthase deficiency
annotated property: hasDefinition
annotated target: In biotinidase deficiency, the endogenous recycling of biotin is impaired. Epilepsy is frequent, often starting after the first 3 or 4 months of life, and often as epileptic spasms; optic atrophy and hearing loss are also often seen. Clues to the diagnosis are alopecia and dermatitis. The refractory seizures respond promptly to small doses of biotin. In holocarboxylase synthase deficiency, symptoms start during the neonatal period. Seizures are less frequent, occurring in 25-50% of all children. Biotin also is effective in this disorder.

blank stare
type: Class
subclass of: nervous system symptom
has definition: a look that shows one does not understand what someone has said or does not know the answer to a question
from ESSO: true

Axiom
annotated source: blank stare
annotated property: hasDefinition
annotated target: a look that shows one does not understand what someone has said or does not know the answer to a question

borborygmi
type: Class
subclass of: digestive system symptom
has definition: Rumbling sounds caused by gas moving through the intestines
from ESSO: true

Axiom
annotated source: borborygmi
annotated property: hasDefinition
annotated target: Rumbling sounds caused by gas moving through the intestines

brain junction
type: Class
subclass of: cerebral cortex
from ESSO: true

breach rhythm
type: Class
subclass of: epileptiform benign variant
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK390352/
has definition: Breach rhythm refers to high-voltage activity that occurs in the region of a skull defect and have a spiky appearance and consist of sharply contoured arciform waveforms that usually have a frequency of 6-11 Hz.
from NCBI book: true

Axiom
annotated source: breach rhythm
annotated property: hasDefinition
annotated target: Breach rhythm refers to high-voltage activity that occurs in the region of a skull defect and have a spiky appearance and consist of sharply contoured arciform waveforms that usually have a frequency of 6-11 Hz.

calcium-activated potassium channel model
type: Class
subclass of: In Vitro Model
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29623857
has definition: Potassium channels are activated by the increase of the intracellular Ca2+ concentration, a consequence of neuronal excitation, and then terminate the action potential with the outward K+ flux and precludes excessive Ca2+ influx. Considering this negative feedback effect, BK channel seemly acts to decrease membrane excitability in order to prevent hyperexcitation which is a typical characteristic of epilepsy.
comment on definition: modified definition
from pub med: true

channel blocker-induced seizure
type: Class
subclass of: toxic cause of seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/1283140
has definition: Seizures caused due to blockage of voltage dependent channels
comment on definition: Modified definition
from pub med: true

chemical mutagenesis derived model
type: Class
subclass of: Transgenic Model
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/25228809
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/25312505
has definition: Chemical mutagenesis is a powerful strategy to produce genetically modified mutations in many species, in which N-ethyl-N-nitrosourea (ENU) induced the mutations.
comment on definition: modified definition
from pub med: true

childhood epilepsy with occipital paroxysm
type: Class
subclass of: simple focal seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/15941650
has definition: Benign childhood epilepsy with occipital paroxysms is classified among childhood benign partial epilepsies. The absence of neurological and neuropsychological deficits has long been considered as a prerequisite for a diagnosis of benign childhood partial epilepsy.
comment on definition: modified definition

chronic spontaneous limbic seizure model
type: Class
subclass of: Rodent Model of Disease
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/9024190
has definition: In animal moels of chronic spontaneous limbic epilepsy, the electrographic seizures resemble the seizures recorded in humans with mesial temporal lobe epilepsy.
comment on definition: modified definition
from pub med: true

cingulate cortex seizure
type: Class
subclass of: frontal lobe seizure
has definition: Seizures are characterized by automatisms at onset with impaired awareness, emotion/mood and autonomic features. Focal emotional seizures with laughter (gelastic seizures) may occur.
from ILAE: true

Axiom
annotated source: cingulate cortex seizure
annotated property: hasDefinition
annotated target: Seizures are characterized by automatisms at onset with impaired awareness, emotion/mood and autonomic features. Focal emotional seizures with laughter (gelastic seizures) may occur.

cingulate epilepsy
type: Class
subclass of: simple focal seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/10802766
has definition: A subgroup of “frontal” focal cortical epilepsy involves the pericallosal gyrus. This type of epilepsy, termed “cingulate epilepsy,” demonstrates variable clinical seiniology and poorly localizing scalp EEG patterns.
comment on definition: modified definition

cobalt model
type: Class
subclass of: convulsant drug model
has definition: This partial crisis model is induced with the application of cobalt powder or wire on the motor cortex, and the thalamus of rats and cats. Cobalt powder is reportedly applied in high doses, resulting in the chronic status epilepticus (SE) model.
from pub med: true

Axiom
annotated source: cobalt model
annotated property: hasDefinition
annotated target: This partial crisis model is induced with the application of cobalt powder or wire on the motor cortex, and the thalamus of rats and cats. Cobalt powder is reportedly applied in high doses, resulting in the chronic status epilepticus (SE) model.

cognitive aura
type: Class
subclass of: cognitive symptom
has definition: Characterized by the feeling of strangeness to people, words, and well-known circumstances, incapacity to recall the name of a known person, or incapacity to understand the words seen
from pub med: true

Axiom
annotated source: cognitive aura
annotated property: hasDefinition
annotated target: Characterized by the feeling of strangeness to people, words, and well-known circumstances, incapacity to recall the name of a known person, or incapacity to understand the words seen

combined generalized and focal epilepsy
type: Class
subclass of: epilepsy classification
subclass of: Restriction
  some values from: epilepsy
has definition: Patients may have both generalized and focal seizure types, with interictal and/or ictal EEG findings that accompany both seizure types. Patients with Dravet syndrome and Lennox Gastaut syndrome may have generalized and focal epilepsy.
from ILAE: true

Axiom
annotated source: combined generalized and focal epilepsy
annotated property: hasDefinition
annotated target: Patients may have both generalized and focal seizure types, with interictal and/or ictal EEG findings that accompany both seizure types. Patients with Dravet syndrome and Lennox Gastaut syndrome may have generalized and focal epilepsy.

complex febrile model
type: Class
subclass of: hyperthermic seizure model
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/25228809
has definition: Models exhibiting seizures longer than 15 minutes with focal onset and possible recurrence within 24 hours.
comment on definition: modified definition
from pub med: true

complex visual hallucination
type: Class
subclass of: visual hallucination
has definition: Complex visual hallucinations may affect some normal individuals on going to sleep and are also seen in pathological states, often in association with a sleep disturbance. The content of these hallucinations is striking and relatively stereotyped, often involving animals and human figures in bright colours and dramatic settings. Conditions causing these hallucinations include narcolepsy-cataplexy syndrome, peduncular hallucinosis, treated idiopathic Parkinson's disease, Lewy body dementia without treatment, migraine coma, Charles Bonnet syndrome (visual hallucinations of the blind), schizophrenia, hallucinogen-induced states and epilepsy.

Axiom
annotated source: complex visual hallucination
annotated property: hasDefinition
annotated target: Complex visual hallucinations may affect some normal individuals on going to sleep and are also seen in pathological states, often in association with a sleep disturbance. The content of these hallucinations is striking and relatively stereotyped, often involving animals and human figures in bright colours and dramatic settings. Conditions causing these hallucinations include narcolepsy-cataplexy syndrome, peduncular hallucinosis, treated idiopathic Parkinson's disease, Lewy body dementia without treatment, migraine coma, Charles Bonnet syndrome (visual hallucinations of the blind), schizophrenia, hallucinogen-induced states and epilepsy.

compulsive valsalva
type: Class
subclass of: Syncope
has definition: Compulsive valsalva can cause frequent syncope in people with learning disability, particularly those with autism. Individuals learn that through hyperventilation, followed by breath holding and a valsalva manoeuvre they can self-induce a syncope. It is presumed that this produces a pleasurable sensation. These children may also have epileptic seizures, a particular example being Rett syndrome. Video is invaluable in making the diagnosis
from ILAE: true

Axiom
annotated source: compulsive valsalva
annotated property: hasDefinition
annotated target: Compulsive valsalva can cause frequent syncope in people with learning disability, particularly those with autism. Individuals learn that through hyperventilation, followed by breath holding and a valsalva manoeuvre they can self-induce a syncope. It is presumed that this produces a pleasurable sensation. These children may also have epileptic seizures, a particular example being Rett syndrome. Video is invaluable in making the diagnosis

congenital stroke
type: Class
subclass of: stroke
has definition: Stroke may occur prenatally or perinatally, with middle cerebral artery distribution stroke being common due to the nature of stroke etiologies in this age group. Infants may present with hemiplegia, which may only be diagnosed as development progresses and asymmetric motor function is recognized, such as early hand preference. Seizures may be the presenting symptom, and may have onset in the neonatal period or later. Because of the middle cerebral artery territory involvement, seizures with focal features that relate to sensori-motor cortex occur. Epileptic spasms occur in around one third of patients, generally responding to medication.
from ILAE: true

Axiom
annotated source: congenital stroke
annotated property: hasDefinition
annotated target: Stroke may occur prenatally or perinatally, with middle cerebral artery distribution stroke being common due to the nature of stroke etiologies in this age group. Infants may present with hemiplegia, which may only be diagnosed as development progresses and asymmetric motor function is recognized, such as early hand preference. Seizures may be the presenting symptom, and may have onset in the neonatal period or later. Because of the middle cerebral artery territory involvement, seizures with focal features that relate to sensori-motor cortex occur. Epileptic spasms occur in around one third of patients, generally responding to medication.

conventional electroencephalography
type: Class
subclass of: electroencephalography
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30528098
has definition: The conventional EEG (cEEG) records the cerebral electrical activity of the brain. Conventional EEG provides a sensitive, direct measure of neonatal brain function and is valuable in early prediction of the neurodevelopmental outcomes of infants after brain injuries. Conventional EEG acquires the electrocortical signal through electrodes attached to the scalp
alternative_term: Routine EEG
alternative_term: conventional EEG
from pub med: true

Axiom
annotated source: conventional electroencephalography
annotated property: hasDefinition
annotated target: The conventional EEG (cEEG) records the cerebral electrical activity of the brain. Conventional EEG provides a sensitive, direct measure of neonatal brain function and is valuable in early prediction of the neurodevelopmental outcomes of infants after brain injuries. Conventional EEG acquires the electrocortical signal through electrodes attached to the scalp

convulsant drug model
type: Class
subclass of: Rodent Model of Disease
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/25769270
has definition: Models based on the systemic administration of chemoconvulsants to induce an initial precipitating injury (status epilepticus) that is followed by the appearance of recurrent seizures originating from limbic structures.
comment on definition: Modified definition

convulsive status epilepticus
type: Class
subclass of: Status epilepticus with prominent motor symptoms
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26920416
has definition: Convulsive status epilepticus is defined as a convulsive seizure lasting more than 5 min or consecutive seizures without recovery of consciousness.
comment on definition: Modified definition
from pub med: true

corneal kindling
type: Class
subclass of: Kindling model
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/10510977
has definition: Kindling of male mice via transcorneal electrical stimulation
comment on definition: Modified definition
from pub med: true

corpus callosotomy
type: Class
subclass of: surgical procedure
has definition: Corpus callosotomy (CC) has been utilized as a palliative procedure for DRE for more than half a century. Transection is intended to disrupt rapid interhemispheric transcallosal propagation of seizures, particularly from regions of cortex associated with ictal motor manifestations. The target for resection is typically the anterior to mid callosum, with sparing of the posterior fibers in an attempt to mitigate the risks of a sensory disconnection syndrome.
alternative_term: callosotomy
from pub med: true

Axiom
annotated source: corpus callosotomy
annotated property: hasDefinition
annotated target: Corpus callosotomy (CC) has been utilized as a palliative procedure for DRE for more than half a century. Transection is intended to disrupt rapid interhemispheric transcallosal propagation of seizures, particularly from regions of cortex associated with ictal motor manifestations. The target for resection is typically the anterior to mid callosum, with sparing of the posterior fibers in an attempt to mitigate the risks of a sensory disconnection syndrome.

delta coma
type: Class
subclass of: special pattern
has definition: Delta Coma (DC) / Delta stupor (DS) refers to irregular, high voltage delta background activity in a comatose/stuporous patient.
alternative_term: delta stupor

Axiom
annotated source: delta coma
annotated property: hasDefinition
annotated target: Delta Coma (DC) / Delta stupor (DS) refers to irregular, high voltage delta background activity in a comatose/stuporous patient.

delta rhythm
type: Class
subclass of: normal EEG pattern
has db x ref: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5603104/
has definition: Delta activity refers to activity with a frequency range of 1 to 3 Hz.
from pub med: true

Axiom
annotated source: delta rhythm
annotated property: hasDefinition
annotated target: Delta activity refers to activity with a frequency range of 1 to 3 Hz.

deterministic model
type: Class
subclass of: in silico model
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/22995680
has definition: Deterministic models are computational models of epilepsy aim to represent the dynamics of an epileptic brain by limiting their analysis to a given spatial scale of resolution using specified initial conditions and the system parameters.
comment on definition: Modified definition
from pub med: true

diaphragmatic breathing
type: Class
subclass of: respiratory system and chest symptom
has definition: Diaphragmatic breathing is a type of a breathing exercise that helps strengthen your diaphragm, an important muscle that helps you breathe. This breathing exercise is also sometimes called belly breathing or abdominal breathing
alternative_term: deep respiration

Axiom
annotated source: diaphragmatic breathing
annotated property: hasDefinition
annotated target: Diaphragmatic breathing is a type of a breathing exercise that helps strengthen your diaphragm, an important muscle that helps you breathe. This breathing exercise is also sometimes called belly breathing or abdominal breathing

dominant parieto-temporal region seizure
type: Class
subclass of: parietal lobe seizure
has definition: Focal cognitive seizures are seen characterized by language impairment with difficulties reading, calculating and writing.
from ILAE: true

Axiom
annotated source: dominant parieto-temporal region seizure
annotated property: hasDefinition
annotated target: Focal cognitive seizures are seen characterized by language impairment with difficulties reading, calculating and writing.

dorsolateral frontal cortex
type: Class
subclass of: frontal lobe seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/23027094
has definition: Dorsolateral lateral frontal lobe is one of major areas in frontal lobe. Due to its diverse functions (e.g. motor, language, cognitive and higher brain functions), dorsolateral frontal lobe seizures can present with a range of semiology. Some of these are classic, stereotypic patterns, such as the Jacksonian march associated with seizure originating in motor cortex, others can appear bizarre and suggest psychogenic events.
from ILAE: true

Axiom
annotated source: dorsolateral frontal cortex
annotated property: hasDefinition
annotated target: Dorsolateral lateral frontal lobe is one of major areas in frontal lobe. Due to its diverse functions (e.g. motor, language, cognitive and higher brain functions), dorsolateral frontal lobe seizures can present with a range of semiology. Some of these are classic, stereotypic patterns, such as the Jacksonian march associated with seizure originating in motor cortex, others can appear bizarre and suggest psychogenic events.

dreamy state
type: Class
subclass of: visual hallucination
has definition: The ‘dreamy state’ refers to a sensation of déjà vécu and/or complex visual hallucinations (e.g. of scenes, faces or people) and sensation of ‘strangeness’. Jackson localized this in the mesial temporal lobe (MTL).
from article: true
from ESSO: true

Axiom
annotated source: dreamy state
annotated property: hasDefinition
annotated target: The ‘dreamy state’ refers to a sensation of déjà vécu and/or complex visual hallucinations (e.g. of scenes, faces or people) and sensation of ‘strangeness’. Jackson localized this in the mesial temporal lobe (MTL).

ducky mouse
type: Class
subclass of: absence seizure model
has definition: Mouse mutant ducky, a model for absence epilepsy, is characterized by spike-wave seizures and ataxia.
from pub med: true

Axiom
annotated source: ducky mouse
annotated property: hasDefinition
annotated target: Mouse mutant ducky, a model for absence epilepsy, is characterized by spike-wave seizures and ataxia.

dysmature
type: Class
subclass of: Interictal EEG abnormality
has definition: Dysmature EEG pattern.
has definition: EEGs are considered dysmature if they contain patterns that are at least 2 weeks immature for the conceptional age.
comment on definition: modified definition

Axiom
annotated source: dysmature
annotated property: hasDefinition
annotated target: Dysmature EEG pattern.

early-onset benign childhood occipital seizure
type: Class
subclass of: seizure
has definition: Seizures consist of autonomic and behavioural disturbances with vomiting and deviation of the eyes lasting from minutes to hours. They are mainly nocturnal and often progress to convulsions. Consciousness is usually impaired from onset or during the ictus. By definition, seizures lasting for more than half an hour are status epilepticus. In one third of these children, the phase of deviation of the eyes with vomiting and impairment of consciousness is prolonged for more than 30 minutes (partial status epilepticus) and usually ends with generalised convulsions.
has_related_synonym: Early onset benign childhood occipital epilepsy (Panayiotopoulos type)
from article: true

Axiom
annotated source: early-onset benign childhood occipital seizure
annotated property: hasDefinition
annotated target: Seizures consist of autonomic and behavioural disturbances with vomiting and deviation of the eyes lasting from minutes to hours. They are mainly nocturnal and often progress to convulsions. Consciousness is usually impaired from onset or during the ictus. By definition, seizures lasting for more than half an hour are status epilepticus. In one third of these children, the phase of deviation of the eyes with vomiting and impairment of consciousness is prolonged for more than 30 minutes (partial status epilepticus) and usually ends with generalised convulsions.

electrically kindled cat
type: Class
subclass of: Non-Rodent Model
has definition: Electrical kindling is performed 1–2 weeks after surgery, using a protocol of one stimulation per day in adult cats, and multiple stimulations per day in kittens
from pub med: true

Axiom
annotated source: electrically kindled cat
annotated property: hasDefinition
annotated target: Electrical kindling is performed 1–2 weeks after surgery, using a protocol of one stimulation per day in adult cats, and multiple stimulations per day in kittens

electrocerebral inactivity
type: Class
subclass of: special pattern
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/25687591
has definition: Electrocerebral inactivity (ECI) or electrocerebral silence (ECS) is defined as no cerebral activity greater than 2µV, having first ruled out the possible influence of sedative drugs, metabolic disorders or hypothermia.
comment on definition: modified definition

electrode implantation
type: Class
subclass of: surgical procedure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/24405074
has definition: Implanted EEG electrodes are often necessary to pinpoint the origin of seizure activity. They are particularly helpful for more precisely localizing seizure activity that has been identified with scalp EEG recordings. For example, the scalp recordings may determine that seizures arise from the right hemisphere. Implanted EEG electrodes can then reveal whether the epileptogenic activity arises specifically from the frontal lobe, rather than the temporal, parietal, or occipital lobes. These invasive electrodes allow EEG recording directly from the surface of the brain or from deeper cortical structures.
from pub med: true

Axiom
annotated source: electrode implantation
annotated property: hasDefinition
annotated target: Implanted EEG electrodes are often necessary to pinpoint the origin of seizure activity. They are particularly helpful for more precisely localizing seizure activity that has been identified with scalp EEG recordings. For example, the scalp recordings may determine that seizures arise from the right hemisphere. Implanted EEG electrodes can then reveal whether the epileptogenic activity arises specifically from the frontal lobe, rather than the temporal, parietal, or occipital lobes. These invasive electrodes allow EEG recording directly from the surface of the brain or from deeper cortical structures.

electrodecrement
type: Class
subclass of: Interictal EEG abnormality
has definition: A focal or generalized flattening of the EEG due to a sudden desynchronization of brain activity.

Axiom
annotated source: electrodecrement
annotated property: hasDefinition
annotated target: A focal or generalized flattening of the EEG due to a sudden desynchronization of brain activity.

electrographic seizure
type: Class
subclass of: seizure
has definition: Electrographic seizures are seizures that are evident on EEG monitoring. They are common in critically ill children and neonates with acute encephalopathy. Most electrographic seizures have no associated clinical changes, and continuous EEG monitoring is necessary for identification.
from pub med: true

Axiom
annotated source: electrographic seizure
annotated property: hasDefinition
annotated target: Electrographic seizures are seizures that are evident on EEG monitoring. They are common in critically ill children and neonates with acute encephalopathy. Most electrographic seizures have no associated clinical changes, and continuous EEG monitoring is necessary for identification.

electroshock stimulation model
type: Class
subclass of: Rodent Model of Disease
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/20492865
has definition: Electrical stimulation of the brain by placing electrodes on the cornea or ears to induce motor convulsions that depend on the intensity of the stimulation
from pub med: true

Axiom
annotated source: electroshock stimulation model
annotated property: hasDefinition
annotated target: Electrical stimulation of the brain by placing electrodes on the cornea or ears to induce motor convulsions that depend on the intensity of the stimulation

elementary partial seizure
type: Class
subclass of: seizure
has definition: Partial seizures with elementary motor symptoms, formerly called focal motor seizures, typically consist of rhythmic jerking (clonic movement) of a body region that may be limited to one finger or extend to an entire side of the body
from article: true

Axiom
annotated source: elementary partial seizure
annotated property: hasDefinition
annotated target: Partial seizures with elementary motor symptoms, formerly called focal motor seizures, typically consist of rhythmic jerking (clonic movement) of a body region that may be limited to one finger or extend to an entire side of the body

emetic seizure
type: Class
subclass of: seizure
has definition: Ictal vomiting or emetic seizure is considered as a localizing sign in patients with partial seizures of temporal origin.
alternative_term: EmeticSeizure

Axiom
annotated source: emetic seizure
annotated property: hasDefinition
annotated target: Ictal vomiting or emetic seizure is considered as a localizing sign in patients with partial seizures of temporal origin.

epilepsy classification
type: Class
subclass of: International League Against Epilepsy classification
from ILAE: true

epilepsy imitator
type: Class
subclass of: International League Against Epilepsy classification
subclass of: Restriction
  on property: isImitatorFor
  some values from: epilepsy
has definition: There are a range of conditions associated with recurrent paroxysmal events that may imitate and be misdiagnosed as epilepsies, these are presented in this section of EpilepsyDiagnosis.org with reference to the epilepsies that they may imitate and important discriminating features. It is important that these disorders are considered in the evaluation of paroxysmal events as misdiagnosis rates in epilepsy are high throughout the world. History remains the key to a correct diagnosis with video recordings very helpful. There are some conditions in which epileptic and non-epileptic events can co-exist.
from ILAE: true

Axiom
annotated source: epilepsy imitator
annotated property: hasDefinition
annotated target: There are a range of conditions associated with recurrent paroxysmal events that may imitate and be misdiagnosed as epilepsies, these are presented in this section of EpilepsyDiagnosis.org with reference to the epilepsies that they may imitate and important discriminating features. It is important that these disorders are considered in the evaluation of paroxysmal events as misdiagnosis rates in epilepsy are high throughout the world. History remains the key to a correct diagnosis with video recordings very helpful. There are some conditions in which epileptic and non-epileptic events can co-exist.

epilepsy with general tonic clonic seizure on awakening
type: Class
subclass of: epilepsy
from article: true

epileptic encephalopathy with continous spikes and wave during sleep
type: Class
subclass of: childhood-onset epilepsy syndrome
has definition: Epileptic encephalopathy with continuous spike-and-wave during sleep is a syndrome characterized by continuous spike-and-wave during sleep, seizures and progressive decline in cognitive, behavioral and psychiatric functioning.
from ILAE: true

Axiom
annotated source: epileptic encephalopathy with continous spikes and wave during sleep
annotated property: hasDefinition
annotated target: Epileptic encephalopathy with continuous spike-and-wave during sleep is a syndrome characterized by continuous spike-and-wave during sleep, seizures and progressive decline in cognitive, behavioral and psychiatric functioning.

epileptiform benign variant
type: Class
subclass of: benign EEG pattern
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK390352/
has definition: Eileptiform benign variant have an epileptiform appearance but are not epileptogenic, that is, they are not associated with seizures.
from NCBI book: true

Axiom
annotated source: epileptiform benign variant
annotated property: hasDefinition
annotated target: Eileptiform benign variant have an epileptiform appearance but are not epileptogenic, that is, they are not associated with seizures.

episodic ataxia type-1 model
type: Class
subclass of: chemical mutagenesis derived model
has db x ref: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4329510/
has definition: Mutation in Kcna1 gene, which encodes for the α subunit of the voltage-gated potassium channel Kv1.1, cause episodic ataxia type 1 (EA1).
comment on definition: Modified definition
from pub med: true

episodic ataxia type-2 model
type: Class
subclass of: chemical mutagenesis derived model
has db x ref: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4329510/
has definition: Cacna1a missense mutation in a N-Methyl-N-nitrosourea (MNU)-induced mutant rat strain GRY, resulted in the discovery of episodic ataxia type 2 (EA2) model rats.
comment on definition: Modified definition
from pub med: true

excessive fast pattern
type: Class
subclass of: special pattern
has definition: Excessive fast (EF) refers to an EEG recording in which at least 50 % of the awake recording is dominated by generalized beta activity of amplitude exceeding 50µV (reference derivation).

Axiom
annotated source: excessive fast pattern
annotated property: hasDefinition
annotated target: Excessive fast (EF) refers to an EEG recording in which at least 50 % of the awake recording is dominated by generalized beta activity of amplitude exceeding 50µV (reference derivation).

experiential sensory seizure
type: Class
subclass of: seizure
has definition: Experiential symptoms are illusions or hallucinations that result in erroneous interpretations of the present experience.Frequent types of experiential symptoms include deja-vu, jamais-vu, hyperfamiliarity, and out-of-body experiences termed autoscopy.
from article: true

Axiom
annotated source: experiential sensory seizure
annotated property: hasDefinition
annotated target: Experiential symptoms are illusions or hallucinations that result in erroneous interpretations of the present experience.Frequent types of experiential symptoms include deja-vu, jamais-vu, hyperfamiliarity, and out-of-body experiences termed autoscopy.

extensor spasm
type: Class
subclass of: Muscle spasm
has definition: Extensor spasticity is an involuntary straightening of the legs. Extensor spasticity involves the quadriceps (muscles on the front of the upper leg) and the adductors (inner thigh muscles).
alternative_term: Extensor spasticity
from ESSO: true

Axiom
annotated source: extensor spasm
annotated property: hasDefinition
annotated target: Extensor spasticity is an involuntary straightening of the legs. Extensor spasticity involves the quadriceps (muscles on the front of the upper leg) and the adductors (inner thigh muscles).

extra striate cortex seizure
type: Class
subclass of: occipital lobe seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/27093945
has definition: Seizures in this area are associated with more complex formed visual hallucinations such as pictures of people, animals or scenes. These are considered as focal cognitive seizures
from ILAE: true
from pub med: true

Axiom
annotated source: extra striate cortex seizure
annotated property: hasDefinition
annotated target: Seizures in this area are associated with more complex formed visual hallucinations such as pictures of people, animals or scenes. These are considered as focal cognitive seizures

extratemporal cortical resection
type: Class
subclass of: surgical procedure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/7925156
has definition: An extratemporal cortical resection is an operation to resect, or cut away, brain tissue that contains a seizure focus. Extratemporal means the tissue is located in an area of the brain other than the temporal lobe. The frontal lobe is the most common extratemporal site for seizures. In some cases, tissue may be removed from more than one area/lobe of the brain.
from article: true
from pub med: true

Axiom
annotated source: extratemporal cortical resection
annotated property: hasDefinition
annotated target: An extratemporal cortical resection is an operation to resect, or cut away, brain tissue that contains a seizure focus. Extratemporal means the tissue is located in an area of the brain other than the temporal lobe. The frontal lobe is the most common extratemporal site for seizures. In some cases, tissue may be removed from more than one area/lobe of the brain.

eye rotation
type: Class
subclass of: Abnormality of eye movement
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/17162190
from ESSO: true
from pub med: true

febrile seizure model
type: Class
subclass of: chemical mutagenesis derived model
has definition: Missense mutations of the Nav1.1 channel (Scn1a), which alter channel properties, have been reported in a familial syndrome of generalized epilepsy with febrile seizures plus (GEFS+).
from pub med: true

Axiom
annotated source: febrile seizure model
annotated property: hasDefinition
annotated target: Missense mutations of the Nav1.1 channel (Scn1a), which alter channel properties, have been reported in a familial syndrome of generalized epilepsy with febrile seizures plus (GEFS+).

first line immunotherapy
type: Class
subclass of: immunotherapy procedure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30057567
from pub med: true

flash
type: Class
subclass of: positive visual hallucination
has definition: Streaks or specks of light in vision are described as flashes.
alternative_term: Flashes of light
comment on definition: Modified definition
from ESSO: true

flexor spasm
type: Class
subclass of: Muscle spasm
has definition: Flexor spasticity is an involuntary bending of the hips or knees (primarily involving the hamstring muscles on the back of the upper leg). The hips and knees bend up toward the chest.
alternative_term: Flexor spasticity
from ESSO: true

Axiom
annotated source: flexor spasm
annotated property: hasDefinition
annotated target: Flexor spasticity is an involuntary bending of the hips or knees (primarily involving the hamstring muscles on the back of the upper leg). The hips and knees bend up toward the chest.

flickering light
type: Class
subclass of: positive visual hallucination
from article: true
from ESSO: true

fluid percussion injury model
type: Class
subclass of: posttraumatic epilepsy model
has definition: In this model, a single episode of severe fluid percussion injury is sufficient to cause posttraumatic epilepsy and it may progress from frontal-parietal epilepsy to mesial temporal lobe epilepsy with dual pathology.
from pub med: true

Axiom
annotated source: fluid percussion injury model
annotated property: hasDefinition
annotated target: In this model, a single episode of severe fluid percussion injury is sufficient to cause posttraumatic epilepsy and it may progress from frontal-parietal epilepsy to mesial temporal lobe epilepsy with dual pathology.

flurothyl model
type: Class
subclass of: convulsant drug model
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/20868357
has definition: In this model, brief exposures to flurothyl gas result in clonic seizures, followed by tonic-clonic convulsions.
comment on definition: Modified definition
from pub med: true

focal automatism seizure
type: Class
subclass of: Focal motor seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/17525024
has definition: An automatism is a coordinated, repetitive motor activity, often resembling a voluntary movement, but undertaken without volition. They often occur in seizures with impaired awareness, but can occur in aware states. Focal automatism seizures can be further described using the following descriptors: Orofacial: lip smacking, lip pursing, chewing, swallowing, clicking, eye-blinking. Manual: unilateral or bilateral, fumbling, tapping, manipulating or exploratory movements with the hands. Pedal: bilateral or unilateral movements of the feet/legs, these may include pacing, walking or running. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs. Perseverative: the movement consists of an inappropriate continuation of pre-seizure movement. Vocal: single or repetitive sounds such as shrieks or grunts. Verbal: single or repetitive words, phrases or brief sentences. Sexual: sexual behaviours. Other: automatisms can include head nodding, undressing and a range of other automatic movements.
from ILAE: true
from pub med: true

Axiom
annotated source: focal automatism seizure
annotated property: hasDefinition
annotated target: An automatism is a coordinated, repetitive motor activity, often resembling a voluntary movement, but undertaken without volition. They often occur in seizures with impaired awareness, but can occur in aware states. Focal automatism seizures can be further described using the following descriptors: Orofacial: lip smacking, lip pursing, chewing, swallowing, clicking, eye-blinking. Manual: unilateral or bilateral, fumbling, tapping, manipulating or exploratory movements with the hands. Pedal: bilateral or unilateral movements of the feet/legs, these may include pacing, walking or running. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs. Perseverative: the movement consists of an inappropriate continuation of pre-seizure movement. Vocal: single or repetitive sounds such as shrieks or grunts. Verbal: single or repetitive words, phrases or brief sentences. Sexual: sexual behaviours. Other: automatisms can include head nodding, undressing and a range of other automatic movements.

focal autonomic seizure with erection
type: Class
subclass of: Focal autonomic seizure
has definition: Seizures accompanied by autonomic symptoms or signs such as sexual arousal, penile erection, and orgasm
comment on definition: Modified definition
from ILAE: true

focal autonomic seizure with lacrimation
type: Class
subclass of: Focal autonomic seizure
has definition: Complex partial seizures characterized by lacrimation or running tears as the initial and most prominent ictal event, with no sign of crying
from article: true
from ILAE: true
from pub med: true

Axiom
annotated source: focal autonomic seizure with lacrimation
annotated property: hasDefinition
annotated target: Complex partial seizures characterized by lacrimation or running tears as the initial and most prominent ictal event, with no sign of crying

focal autonomic seizure with piloerection
type: Class
subclass of: Focal autonomic seizure
has definition: Ictal piloerection (‘‘goose bumps’’) is an infrequent form ofautonomic seizures and is commonly overlooked as an ictalepileptic manifestation. Piloerection is principally considered to bean expression of ictal temporal lobe activity although otherseizure origins such as frontal or hypothalamic have beenreported. The described etiology has shown a wide variety ofstructural causes such as mesial temporal sclerosis, tumors,posttraumatic, cavernomas, and cryptogenic epilepsies
from article: true
from ILAE: true

Axiom
annotated source: focal autonomic seizure with piloerection
annotated property: hasDefinition
annotated target: Ictal piloerection (‘‘goose bumps’’) is an infrequent form ofautonomic seizures and is commonly overlooked as an ictalepileptic manifestation. Piloerection is principally considered to bean expression of ictal temporal lobe activity although otherseizure origins such as frontal or hypothalamic have beenreported. The described etiology has shown a wide variety ofstructural causes such as mesial temporal sclerosis, tumors,posttraumatic, cavernomas, and cryptogenic epilepsies

focal behaviour arrest seizure
type: Class
subclass of: focal non-motor onset seizure
has definition: A focal behaviour arrest seizure is characterized by a decrease in amplitude and/or rate or arrest of ongoing motor activity during the seizure. Because brief behaviour arrest is common and difficult to identify at the start of many seizures, the arrest must be persistent and dominant through the entire seizure.
from ILAE: true

Axiom
annotated source: focal behaviour arrest seizure
annotated property: hasDefinition
annotated target: A focal behaviour arrest seizure is characterized by a decrease in amplitude and/or rate or arrest of ongoing motor activity during the seizure. Because brief behaviour arrest is common and difficult to identify at the start of many seizures, the arrest must be persistent and dominant through the entire seizure.

focal bilateral motor seizure
type: Class
subclass of: Focal motor seizure
has definition: The seizure commences in one hemisphere but involves bilateral muscle groups rapidly at seizure onset. Certain frontal lobe seizure sub-types have bilateral motor features at onset, often with asymmetric posturing. Typically, there is extension of the upper limb (at the elbow) contralateral to the hemisphere of seizure onset (often with a clenched fist and flexion at the wrist) and flexion of the ipsilateral upper limb at the elbow. This type of seizure is also described as a 'fencer's posture' or a figure of 4. Awareness can be preserved during the bilateral movement, resulting in misdiagnosis of the seizure as a non-epileptic seizure. These seizures can progress to a focal to bilateral tonic-clonic seizure.
from ILAE: true

Axiom
annotated source: focal bilateral motor seizure
annotated property: hasDefinition
annotated target: The seizure commences in one hemisphere but involves bilateral muscle groups rapidly at seizure onset. Certain frontal lobe seizure sub-types have bilateral motor features at onset, often with asymmetric posturing. Typically, there is extension of the upper limb (at the elbow) contralateral to the hemisphere of seizure onset (often with a clenched fist and flexion at the wrist) and flexion of the ipsilateral upper limb at the elbow. This type of seizure is also described as a 'fencer's posture' or a figure of 4. Awareness can be preserved during the bilateral movement, resulting in misdiagnosis of the seizure as a non-epileptic seizure. These seizures can progress to a focal to bilateral tonic-clonic seizure.

focal cognitive seizure
type: Class
subclass of: focal non-motor onset seizure
has definition: A focal cognitive seizure involves an alteration in a cognitive function (which can be a deficit or a positive phenomenon such as forced thought), which occurs at seizure onset. To be classified as a focal cognitive seizure, the change in cognitive function should be specific and out of proportion to other relatively unimpaired aspects of cognition, because all cognition is impaired in a focal impaired awareness seizure.
has_related_synonym: cognitive
from ILAE: true

Axiom
annotated source: focal cognitive seizure
annotated property: hasDefinition
annotated target: A focal cognitive seizure involves an alteration in a cognitive function (which can be a deficit or a positive phenomenon such as forced thought), which occurs at seizure onset. To be classified as a focal cognitive seizure, the change in cognitive function should be specific and out of proportion to other relatively unimpaired aspects of cognition, because all cognition is impaired in a focal impaired awareness seizure.

focal cognitive seizure with anomia
type: Class
subclass of: focal cognitive seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/16563807
has definition: There is a specific difficulty naming everyday objects.
from ILAE: true
from pub med: true

Axiom
annotated source: focal cognitive seizure with anomia
annotated property: hasDefinition
annotated target: There is a specific difficulty naming everyday objects.

focal cognitive seizure with auditory agnosia
type: Class
subclass of: focal cognitive seizure
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK2605
has definition: Characterized by the inability to recognize or differentiate between sounds/words or relate them to their meaning. For example a person may hear a ringing sound, but may not connect this with the concept that the sound is from a telephone ringing.
from ILAE: true
from NCBI book: true

Axiom
annotated source: focal cognitive seizure with auditory agnosia
annotated property: hasDefinition
annotated target: Characterized by the inability to recognize or differentiate between sounds/words or relate them to their meaning. For example a person may hear a ringing sound, but may not connect this with the concept that the sound is from a telephone ringing.

focal cognitive seizure with dissociation
type: Class
subclass of: focal cognitive seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/23667393
has definition: Characterized by an experience of being disconnected from, though aware of, self or environment.
from ILAE: true
from pub med: true

Axiom
annotated source: focal cognitive seizure with dissociation
annotated property: hasDefinition
annotated target: Characterized by an experience of being disconnected from, though aware of, self or environment.

focal cognitive seizure with forced thinking
type: Class
subclass of: focal cognitive seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/24649451
has definition: Characterized by the presence of intrusive thoughts, ideas or crowding of thoughts occurring at seizure onset. This is a rare seizure type, seen in mesial parietal, posterior parahippocampal and frontal lobe seizures.
from article: true
from ILAE: true
from pub med: true

Axiom
annotated source: focal cognitive seizure with forced thinking
annotated property: hasDefinition
annotated target: Characterized by the presence of intrusive thoughts, ideas or crowding of thoughts occurring at seizure onset. This is a rare seizure type, seen in mesial parietal, posterior parahippocampal and frontal lobe seizures.

focal cognitive seizure with hallucination
type: Class
subclass of: focal cognitive seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/22832396
has definition: Characterized by the creation of composite perceptions without the presence of external sensory stimuli, these may be visual (e.g. formed images), auditory (e.g. hearing voices) or involve other sensory modalities, without change in awareness. The sensory phenomena may be accompanied by associated emotion or interpretation e.g. a formed visual image may be accompanied by fear, or may be experienced as persecutory or with paranoia (i.e. with unjustified suspicion / mistrust).
from ILAE: true
from pub med: true

Axiom
annotated source: focal cognitive seizure with hallucination
annotated property: hasDefinition
annotated target: Characterized by the creation of composite perceptions without the presence of external sensory stimuli, these may be visual (e.g. formed images), auditory (e.g. hearing voices) or involve other sensory modalities, without change in awareness. The sensory phenomena may be accompanied by associated emotion or interpretation e.g. a formed visual image may be accompanied by fear, or may be experienced as persecutory or with paranoia (i.e. with unjustified suspicion / mistrust).

focal cognitive seizure with illusion
type: Class
subclass of: focal cognitive seizure
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK2605/
has definition: Characterized by an alteration of actual perception involving visual, auditory, somatosensory, olfactory, and/or gustatory phenomena, often without obvious change in awareness.
from ILAE: true
from NCBI book: true

Axiom
annotated source: focal cognitive seizure with illusion
annotated property: hasDefinition
annotated target: Characterized by an alteration of actual perception involving visual, auditory, somatosensory, olfactory, and/or gustatory phenomena, often without obvious change in awareness.

focal cognitive seizure with left-right confusion
type: Class
subclass of: focal cognitive seizure
has definition: Characterized by inability to distinguish right from left, at the onset of the seizure. This seizure type is seen in seizures involving the dominant hemisphere parieto-temporal lobe region.
from ILAE: true

Axiom
annotated source: focal cognitive seizure with left-right confusion
annotated property: hasDefinition
annotated target: Characterized by inability to distinguish right from left, at the onset of the seizure. This seizure type is seen in seizures involving the dominant hemisphere parieto-temporal lobe region.

focal cognitive seizure with memory impairment
type: Class
subclass of: focal cognitive seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29376090
has definition: The onset of inability to retain memory for events occurring during the seizure, while other cognitive functions and awareness are preserved in the seizure.
from article: true
from ILAE: true
from pub med: true

Axiom
annotated source: focal cognitive seizure with memory impairment
annotated property: hasDefinition
annotated target: The onset of inability to retain memory for events occurring during the seizure, while other cognitive functions and awareness are preserved in the seizure.

focal cognitive seizure with neglect
type: Class
subclass of: focal cognitive seizure
has definition: Characterized by unilateral failure to report or respond/orient to stimuli presented contralaterally.
from ILAE: true

Axiom
annotated source: focal cognitive seizure with neglect
annotated property: hasDefinition
annotated target: Characterized by unilateral failure to report or respond/orient to stimuli presented contralaterally.

focal emotional seizure with anger
type: Class
subclass of: Focal emotional seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/19846832
has definition: Characterized by the presence of anger, which may be accompanied by aggressive behaviour. This is a rare seizure type, anger and aggression, if present, are mostly seen in the post-ictal period. This seizure type localizes to prefrontal or mesial temporal regions of the brain. Focal emotional seizures with anger are distinguished from tantrums and rage reactions by the absence of organized, purposeful goal-directed aggressive behaviour, by their stereotyped evolution during each event, and by the presence of other epileptic seizure features as the seizure evolves.
from article: true
from ILAE: true
from pub med: true

Axiom
annotated source: focal emotional seizure with anger
annotated property: hasDefinition
annotated target: Characterized by the presence of anger, which may be accompanied by aggressive behaviour. This is a rare seizure type, anger and aggression, if present, are mostly seen in the post-ictal period. This seizure type localizes to prefrontal or mesial temporal regions of the brain. Focal emotional seizures with anger are distinguished from tantrums and rage reactions by the absence of organized, purposeful goal-directed aggressive behaviour, by their stereotyped evolution during each event, and by the presence of other epileptic seizure features as the seizure evolves.

focal emotional seizure with pleasure
type: Class
subclass of: Focal emotional seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26924970
has definition: Characterized by the presence of a positive emotional experience with pleasure, bliss, joy, enhanced personal well-being, heightened self-awareness or ecstasy. This is a rare seizure type, seen in seizures arising in the anterior insular cortex.
from article: true
from ILAE: true
from pub med: true

Axiom
annotated source: focal emotional seizure with pleasure
annotated property: hasDefinition
annotated target: Characterized by the presence of a positive emotional experience with pleasure, bliss, joy, enhanced personal well-being, heightened self-awareness or ecstasy. This is a rare seizure type, seen in seizures arising in the anterior insular cortex.

focal motor seizure with dystonia
type: Class
subclass of: Focal motor seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30361137
has definition: A sustained contraction of both agonist and antagonist muscles producing athetoid or twisting movements, which produces abnormal postures.
from article: true
from ILAE: true
from pub med: true

Axiom
annotated source: focal motor seizure with dystonia
annotated property: hasDefinition
annotated target: A sustained contraction of both agonist and antagonist muscles producing athetoid or twisting movements, which produces abnormal postures.

focal motor seizure with negative myoclonus
type: Class
subclass of: Focal motor seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/8848969
has definition: A sudden interruption in normal tonic muscle activity lasting 500 milliseconds or less, without evidence of preceding myoclonus. This is seen in the epilepsy syndrome atypical childhood epilepsy with centrotemporal spikes, where an upper limb or the head is affected by localized brief interruption in normal muscle tone. The interruption in muscle tone is briefer than seen in a focal atonic seizure. The patient may correct for the loss of tone with overshoot past the primary position.
from ILAE: true
from pub med: true

Axiom
annotated source: focal motor seizure with negative myoclonus
annotated property: hasDefinition
annotated target: A sudden interruption in normal tonic muscle activity lasting 500 milliseconds or less, without evidence of preceding myoclonus. This is seen in the epilepsy syndrome atypical childhood epilepsy with centrotemporal spikes, where an upper limb or the head is affected by localized brief interruption in normal muscle tone. The interruption in muscle tone is briefer than seen in a focal atonic seizure. The patient may correct for the loss of tone with overshoot past the primary position.

focal motor seizure with version
type: Class
subclass of: Focal motor seizure
has definition: Onset of sustained, forced conjugate ocular, cephalic,and/or truncal rotation or lateral deviation from the midline. The laterality is important to specify as this assists in hemispheric lateralization, for example the seizure might be a focal motor seizure with ocular and cephalic version to the right.
from ILAE: true

Axiom
annotated source: focal motor seizure with version
annotated property: hasDefinition
annotated target: Onset of sustained, forced conjugate ocular, cephalic,and/or truncal rotation or lateral deviation from the midline. The laterality is important to specify as this assists in hemispheric lateralization, for example the seizure might be a focal motor seizure with ocular and cephalic version to the right.

focal non-motor onset seizure
type: Class
subclass of: focal seizure classification by onset feature
has definition: Non-motor seizures can cause changes in any one of the senses. Generally, a person experiencing a focal onset non-motor Seizure remains alert and able to interact, and these types of seizures generally last seconds to less than two minutes.
alternative_term: non motor onset
from article: true
from ILAE: true

Axiom
annotated source: focal non-motor onset seizure
annotated property: hasDefinition
annotated target: Non-motor seizures can cause changes in any one of the senses. Generally, a person experiencing a focal onset non-motor Seizure remains alert and able to interact, and these types of seizures generally last seconds to less than two minutes.

focal non convulsive status epilepticus
type: Class
subclass of: Non-convulsive status epilepticus without coma
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26336950
from pub med: true

focal non convulsive status epilepticus with impairment of consciousness
type: Class
subclass of: focal non convulsive status epilepticus
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26336950
from pub med: true

focal seizure classification by onset feature
type: Class
subclass of: Focal-onset seizure
has definition: Focal seizure classification should only occur if the seizure is a focal epileptic seizure and epilepsy imitators have been excluded. Focal seizure classification is undertaken at two levels. The seizure is first classified according to level of awareness, as this is of critical importance for safety and independence in day to day life. If awareness is impaired at any point in the seizure, the seizure is a focal impaired awareness seizure. Because the first symptom/sign of the seizure is the most useful feature for identification of the regional brain network in which the seizure arises, focal onset seizures are also classified by their initial onset feature, even if this is not the most prominent feature overall in the seizure.
from ILAE: true

Axiom
annotated source: focal seizure classification by onset feature
annotated property: hasDefinition
annotated target: Focal seizure classification should only occur if the seizure is a focal epileptic seizure and epilepsy imitators have been excluded. Focal seizure classification is undertaken at two levels. The seizure is first classified according to level of awareness, as this is of critical importance for safety and independence in day to day life. If awareness is impaired at any point in the seizure, the seizure is a focal impaired awareness seizure. Because the first symptom/sign of the seizure is the most useful feature for identification of the regional brain network in which the seizure arises, focal onset seizures are also classified by their initial onset feature, even if this is not the most prominent feature overall in the seizure.

focal sensory seizure with cephalic sensation
type: Class
subclass of: Focal sensory seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/15642493
has definition: Characterized by a sensation in the head such as light-headedness or headache.
from ILAE: true
from pub med: true

Axiom
annotated source: focal sensory seizure with cephalic sensation
annotated property: hasDefinition
annotated target: Characterized by a sensation in the head such as light-headedness or headache.

focal sensory seizure with hot-cold sensation
type: Class
subclass of: Focal sensory seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/15642493
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/27857611
has definition: Characterized by sensations of feeling hot and then cold.
from ILAE: true
from pub med: true

Axiom
annotated source: focal sensory seizure with hot-cold sensation
annotated property: hasDefinition
annotated target: Characterized by sensations of feeling hot and then cold.

focal sensory vestibular seizure
type: Class
subclass of: Focal sensory seizure
has definition: Characterized by symptoms of dizziness, spinning, vertigo or sense of rotation. These seizures involve the parietal cortex, temporo-parieto-occipital junction or parieto-temporal cortex.
from article: true
from ILAE: true

Axiom
annotated source: focal sensory vestibular seizure
annotated property: hasDefinition
annotated target: Characterized by symptoms of dizziness, spinning, vertigo or sense of rotation. These seizures involve the parietal cortex, temporo-parieto-occipital junction or parieto-temporal cortex.

focal to bilateral tonic clonic seizure
type: Class
subclass of: Focal-onset seizure
has definition: A focal seizure may spread to involve wider brain networks, resulting in a focal to bilateral tonic-clonic seizure. This was previously known as a secondary generalized seizure. Consciousness is impaired. Motor components in such a situation include tonic and clonic features. This type of seizure may follow after other focal seizures types, such as focal motor seizures, focal cognitive seizures, focal sensory seizures or focal impaired awareness seizures. Alternatively, the spread in brain networks may be so rapid that no preceding focal seizure type is identified.
from article: true
from ILAE: true

Axiom
annotated source: focal to bilateral tonic clonic seizure
annotated property: hasDefinition
annotated target: A focal seizure may spread to involve wider brain networks, resulting in a focal to bilateral tonic-clonic seizure. This was previously known as a secondary generalized seizure. Consciousness is impaired. Motor components in such a situation include tonic and clonic features. This type of seizure may follow after other focal seizures types, such as focal motor seizures, focal cognitive seizures, focal sensory seizures or focal impaired awareness seizures. Alternatively, the spread in brain networks may be so rapid that no preceding focal seizure type is identified.

fragmentary behavior
type: Class
subclass of: behavioral symptom
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK2605/
from ESSO: true
from pub med: true

frontal arousal rhythm
type: Class
subclass of: rhythmic benign variant
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK390352/
has definition: Frontal arousal rhythm (FAR) consists of trains of 7 to 20Hz waveforms that occur predominantly over the frontal regions in runs lasting up to 20 seconds.
alternative_term: FAR
from NCBI book: true

Axiom
annotated source: frontal arousal rhythm
annotated property: hasDefinition
annotated target: Frontal arousal rhythm (FAR) consists of trains of 7 to 20Hz waveforms that occur predominantly over the frontal regions in runs lasting up to 20 seconds.

frontal intermittent rhythmic delta activity
type: Class
subclass of: EEG abnormality
has definition: Fairly regular, approximately sinusoidal or saw-tooth waves, mostly occurring in bursts at 1.5-2.5 Hz over the frontal areas of one or both sides of the head.
from ESSO: true

Axiom
annotated source: frontal intermittent rhythmic delta activity
annotated property: hasDefinition
annotated target: Fairly regular, approximately sinusoidal or saw-tooth waves, mostly occurring in bursts at 1.5-2.5 Hz over the frontal areas of one or both sides of the head.

frontal lobe seizure
type: Class
subclass of: seizure based on lobar localization
has definition: Frontal lobe seizures are usually brief events (< 2 minutes), with stereotyped features seen from seizure to seizure and preserved awareness. Parasomnias are usually longer in duration (> 10 minutes), have variable features from event to event and are characterized by a confusional state with the patient having no memory of the event afterwards. In parasomnias, clustering is rare and the common non-REM parasomnias typically occur 1-2 hours after falling asleep, in the first cycle of deep slow wave sleep. Nocturnal frontal lobe seizures typically occur throughout the night, and more frequently within half an hour of falling asleep or awakening.
from article: true
from ILAE: true

Axiom
annotated source: frontal lobe seizure
annotated property: hasDefinition
annotated target: Frontal lobe seizures are usually brief events (< 2 minutes), with stereotyped features seen from seizure to seizure and preserved awareness. Parasomnias are usually longer in duration (> 10 minutes), have variable features from event to event and are characterized by a confusional state with the patient having no memory of the event afterwards. In parasomnias, clustering is rare and the common non-REM parasomnias typically occur 1-2 hours after falling asleep, in the first cycle of deep slow wave sleep. Nocturnal frontal lobe seizures typically occur throughout the night, and more frequently within half an hour of falling asleep or awakening.

fronto-parietal operculum seizure
type: Class
subclass of: frontal lobe seizure
subclass of: parietal lobe seizure
has definition: Seizures are characterized by facial (mouth and tongue) clonic movements (which may be unilateral), laryngeal symptoms, articulation difficulty, swallowing or chewing movements and hyper-salivation. Autonomic (e.g. epigastric, urogenital, gastrointestinal, cardiovascular or respiratory) and emotional (e.g. fear) features are common. Gustatory hallucinations are particularly common.
from ILAE: true

Axiom
annotated source: fronto-parietal operculum seizure
annotated property: hasDefinition
annotated target: Seizures are characterized by facial (mouth and tongue) clonic movements (which may be unilateral), laryngeal symptoms, articulation difficulty, swallowing or chewing movements and hyper-salivation. Autonomic (e.g. epigastric, urogenital, gastrointestinal, cardiovascular or respiratory) and emotional (e.g. fear) features are common. Gustatory hallucinations are particularly common.

frontopolar cortex seizure
type: Class
subclass of: frontal lobe seizure
has definition: Seizures may be characterized by forced thoughts, impaired awareness, ipsilateral head and eye version with possible progression to contralateral version, autonomic features and axial tonic-clonic movements resulting in falls.
from ILAE: true

Axiom
annotated source: frontopolar cortex seizure
annotated property: hasDefinition
annotated target: Seizures may be characterized by forced thoughts, impaired awareness, ipsilateral head and eye version with possible progression to contralateral version, autonomic features and axial tonic-clonic movements resulting in falls.

frontopolar epilepsy
type: Class
subclass of: lateral frontal epilepsy
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/19679190
from pub med: true

gait induced seizure
type: Class
subclass of: seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/11554899
has definition: Seizures induced exclusively by gait disorder (characterized by abnormal posturing and movement of the left leg while walking).
comment on definition: Modified definition
from article: true
from pub med: true

gamma rhythm
type: Class
subclass of: normal EEG pattern
has db x ref: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5603104/
has definition: An EEG rhythm between 30- 45 Hz.
comment on definition: modified definition
from ESSO: true

gene panel sequencing
type: Class
subclass of: nucleic acid assay
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29722352
has definition: Gene panel analyses enable cost-efficient and high-quality parallel analysis of anywhere from a small number of disease-related genes to several hundred within a short period of time using next-generation sequencing.
from pub med: true

Axiom
annotated source: gene panel sequencing
annotated property: hasDefinition
annotated target: Gene panel analyses enable cost-efficient and high-quality parallel analysis of anywhere from a small number of disease-related genes to several hundred within a short period of time using next-generation sequencing.

generalized linear model
type: Class
subclass of: non-deterministic model
has definition: Generalized linear models (GLM) are extension of linear regression models and are used to evaluate the prevalence of cognitive co-morbidities in epilepsy
from pub med: true

Axiom
annotated source: generalized linear model
annotated property: hasDefinition
annotated target: Generalized linear models (GLM) are extension of linear regression models and are used to evaluate the prevalence of cognitive co-morbidities in epilepsy

generalized motor onset seizure
type: Class
subclass of: Generalized-onset seizure
has definition: A Generalized Onset Motor Seizure and is what most people think of when they hear the word seizure. An older term for this type of seizure is grand mal. A person loses consciousness, muscles stiffen, and jerking movements are seen. As implied by the name, they combine the characteristics of tonic seizures and clonic seizures.
from ILAE: true

Axiom
annotated source: generalized motor onset seizure
annotated property: hasDefinition
annotated target: A Generalized Onset Motor Seizure and is what most people think of when they hear the word seizure. An older term for this type of seizure is grand mal. A person loses consciousness, muscles stiffen, and jerking movements are seen. As implied by the name, they combine the characteristics of tonic seizures and clonic seizures.

generalized non-motor onset seizure
type: Class
subclass of: Generalized-onset seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29327337
has definition: An absence seizure is a Generalized Onset Non-Motor Seizure. An absence seizure causes a short period of blanking out or staring into space, and are usually so brief that they frequently escape notice. Like other kinds of seizures, they are caused by abnormal activity in a person’s brain.
from ILAE: true
from pub med: true

Axiom
annotated source: generalized non-motor onset seizure
annotated property: hasDefinition
annotated target: An absence seizure is a Generalized Onset Non-Motor Seizure. An absence seizure causes a short period of blanking out or staring into space, and are usually so brief that they frequently escape notice. Like other kinds of seizures, they are caused by abnormal activity in a person’s brain.

generalized non convulsive status epilepticus without coma
type: Class
subclass of: Non-convulsive status epilepticus without coma
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26336950
from pub med: true

genetic etiology
type: Class
subclass of: Etiology
has definition: The concept of genetic epilepsy is that the epilepsy is, as best we understand, the direct result of a known or presumed genetic defect(s) in which seizures are the core symptom of the disorder. The genetic defect may arise at a chromosomal or molecular level. It is important to emphasize that "genetic" does not mean the same as "inherited" as de novo mutations are not uncommon. Having a genetic etiology does not preclude an environmental contribution to the epilepsy.
has_related_synonym: Genetic Defect
from ILAE: true

Axiom
annotated source: genetic etiology
annotated property: hasDefinition
annotated target: The concept of genetic epilepsy is that the epilepsy is, as best we understand, the direct result of a known or presumed genetic defect(s) in which seizures are the core symptom of the disorder. The genetic defect may arise at a chromosomal or molecular level. It is important to emphasize that "genetic" does not mean the same as "inherited" as de novo mutations are not uncommon. Having a genetic etiology does not preclude an environmental contribution to the epilepsy.

genital automatism
type: Class
subclass of: automatism
has definition: Genital automatisms (GAs) are uncommon clinical phenomena of focal seizures. They are defined as repeated fondling, grabbing, or scratching of the genitals.
from pub med: true

Axiom
annotated source: genital automatism
annotated property: hasDefinition
annotated target: Genital automatisms (GAs) are uncommon clinical phenomena of focal seizures. They are defined as repeated fondling, grabbing, or scratching of the genitals.

gustatory illusion
type: Class
subclass of: neurological and physiological symptom
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/19423297
has definition: Also known as taste illusion. The term gustatory illusion is indebted to the Latin noun gustus, which means taste. It is used to denote an aberrant taste sensation occurring in the presence of a tastant. The group of gustatory illusions comprises dysgeusia, hypergeusia, and parageusia. The gustatory illusion is commonly classified as a chemosensory disorder.
from ESSO: true

Axiom
annotated source: gustatory illusion
annotated property: hasDefinition
annotated target: Also known as taste illusion. The term gustatory illusion is indebted to the Latin noun gustus, which means taste. It is used to denote an aberrant taste sensation occurring in the presence of a tastant. The group of gustatory illusions comprises dysgeusia, hypergeusia, and parageusia. The gustatory illusion is commonly classified as a chemosensory disorder.

heautoscopy
type: Class
subclass of: visual hallucination
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/8021672
has definition: A hallucination in which one sees one's own body from a distance
from ESSO: true
from pub med: true

Axiom
annotated source: heautoscopy
annotated property: hasDefinition
annotated target: A hallucination in which one sees one's own body from a distance

high potassium slice model
type: Class
subclass of: In Vitro Model
has definition: Elevated [K+] seizure models are particularly relevant to studies of astrocytes, which play a key role in buffering extracellular K+ affecting neuronal excitability.
from pub med: true

Axiom
annotated source: high potassium slice model
annotated property: hasDefinition
annotated target: Elevated [K+] seizure models are particularly relevant to studies of astrocytes, which play a key role in buffering extracellular K+ affecting neuronal excitability.

hippocampal epilepsy
type: Class
subclass of: temporal lobe epilepsy
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/24777136
from pub med: true

hippocampal kindling model
type: Class
subclass of: Kindling model
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/27070861
has definition: Hippocampal kindling models are animal models, where there is a progressive increase in electrographic and behavioral seizure activity in response to repeated stimulation of a limbic brain region such as hippocampus with an initially subconvulsive current. Kindling is associated with a progressive increase in seizure severity and duration, a decrease in focal seizure threshold, and neuronal degeneration in limbic brain regions that resemble human temporal lobe epilepsy
comment on definition: Modified definition
from pub med: true

hippocampal sclerosis
type: Class
subclass of: structural etiology
has definition: Hippocampal sclerosis is characterized pathologically by loss of pyramidal neurons, granule cell dispersion and gliosis in the hippocampus. It can be associated with changes in nearby structures, known as mesial temporal sclerosis.It a common cause of temporal lobe seizures that do not respond to medication. It is an acquired structural abnormality, and is known to occur as a consequence of seizures, especially prolonged febrile seizures. It can co-occur with other structural brain abnormalities, including malformations of cortical development and vascular malformations (e.g. Sturge Weber syndrome), known as 'dual pathology'.
from ILAE: true

Axiom
annotated source: hippocampal sclerosis
annotated property: hasDefinition
annotated target: Hippocampal sclerosis is characterized pathologically by loss of pyramidal neurons, granule cell dispersion and gliosis in the hippocampus. It can be associated with changes in nearby structures, known as mesial temporal sclerosis.It a common cause of temporal lobe seizures that do not respond to medication. It is an acquired structural abnormality, and is known to occur as a consequence of seizures, especially prolonged febrile seizures. It can co-occur with other structural brain abnormalities, including malformations of cortical development and vascular malformations (e.g. Sturge Weber syndrome), known as 'dual pathology'.

horizontal occular oscillation
type: Class
subclass of: occular oscillation
has definition: Oscillatory eye movements both in horizontal direction.
comment on definition: Modified definition
from ESSO: true

hypehydrotic seizure
type: Class
subclass of: seizure

hyper-cyanotic spell
type: Class
subclass of: Syncope
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/16302879
has definition: Hyper-cyanotic spells are most frequently seen in infants with Tetralogy of Fallot (known as 'tet spells'), however can be seen in other congenital cardiac defects with pulmonary or subpulmonary stenosis and a ventriculoseptal defect and in pulmonary hypertension. Spells may be precipitated by tachypnea or tachycardia and by dehydration. Spells may be characterized by crying, panic, rapid deep breathing, deepening cyanosis, limpness and subsequently a tonic-clonic episode. It is important that hyper-cyanotic spells are recognized as failure to manage these events correctly can lead to prolonged hypoxia and death.
from ILAE: true
from pub med: true

Axiom
annotated source: hyper-cyanotic spell
annotated property: hasDefinition
annotated target: Hyper-cyanotic spells are most frequently seen in infants with Tetralogy of Fallot (known as 'tet spells'), however can be seen in other congenital cardiac defects with pulmonary or subpulmonary stenosis and a ventriculoseptal defect and in pulmonary hypertension. Spells may be precipitated by tachypnea or tachycardia and by dehydration. Spells may be characterized by crying, panic, rapid deep breathing, deepening cyanosis, limpness and subsequently a tonic-clonic episode. It is important that hyper-cyanotic spells are recognized as failure to manage these events correctly can lead to prolonged hypoxia and death.

hyperthermic seizure model
type: Class
subclass of: Rodent Model of Disease
has definition: Rodent pups have their core temperature increased to 40°C-42°C by hot air stream for 30 minutes, stimulating prolonged convulsions.
from pub med: true

Axiom
annotated source: hyperthermic seizure model
annotated property: hasDefinition
annotated target: Rodent pups have their core temperature increased to 40°C-42°C by hot air stream for 30 minutes, stimulating prolonged convulsions.

hyperventilation syncope
type: Class
subclass of: Syncope
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/16302879
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/23190285
has definition: Hyperventilation syncope is a transient loss of consciousness with or without an anoxic seizure triggered by hyperventilation.
from ILAE: true
from pub med: true

Axiom
annotated source: hyperventilation syncope
annotated property: hasDefinition
annotated target: Hyperventilation syncope is a transient loss of consciousness with or without an anoxic seizure triggered by hyperventilation.

hypnogogic jerk
type: Class
subclass of: sleep disorder
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK2609/
has definition: Sleep starts or hypnic or hypnogogic jerks are normal phenomena experienced by the majority of children and adults at sleep onset, to variable degrees. They are more common in children with motor and developmental disorders and are occasionally presented as potentially epileptic events if they are repetitive or if the child has epileptic seizures at other times. Repetitive sleep starts can cause recurrent wakening. They may be mistaken for myoclonic seizures or epileptic spasms.
alternative_term: Hypnic jerk
alternative_term: Sleep start jerks
from article: true
from ILAE: true
from NCBI book: true

Axiom
annotated source: hypnogogic jerk
annotated property: hasDefinition
annotated target: Sleep starts or hypnic or hypnogogic jerks are normal phenomena experienced by the majority of children and adults at sleep onset, to variable degrees. They are more common in children with motor and developmental disorders and are occasionally presented as potentially epileptic events if they are repetitive or if the child has epileptic seizures at other times. Repetitive sleep starts can cause recurrent wakening. They may be mistaken for myoclonic seizures or epileptic spasms.

hypnogogic seizure
type: Class
subclass of: special seizure
has definition: Seizures due to Hypnogogic hallucination. Hypnogogic (or hypnopompic) hallucinations also occur while falling asleep (or waking up). Cataplexy, hypnagogic hallucinations, and sleep paralysis can occur in the absence of narcolepsy, and in these cases are more likely to be mistaken for epilepsy.
comment on definition: Modified definition

hypnopompic seizure
type: Class
subclass of: special seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/21030341
has definition: Ictal awakening is probably a common and well-described relationship between epilepsy and sleep. Arousal from sleep as the only, or at least main, manifestation of some epileptic seizures. And this phenomenon is described as hypnopompic (arousing) seizures.
comment on definition: Modified definition

hypothalamic epilepsy
type: Class
subclass of: simple focal seizure
has definition: Hypothalamic hamartomas may be associated with gelastic seizures, focal seizures, and a generalized epileptic encephalopathy, with severe seizures and cognitive and behavior decline.
has_related_synonym: Hypothalamic hamartoma

Axiom
annotated source: hypothalamic epilepsy
annotated property: hasDefinition
annotated target: Hypothalamic hamartomas may be associated with gelastic seizures, focal seizures, and a generalized epileptic encephalopathy, with severe seizures and cognitive and behavior decline.

hypoxia model
type: Class
subclass of: neonatal hypoxia model
has definition: In this model of global hypoxia, rat pups are exposed to graded global hypoxia (7%–4% oxygen) for 15 minutes in a gas chamber.
from pub med: true

Axiom
annotated source: hypoxia model
annotated property: hasDefinition
annotated target: In this model of global hypoxia, rat pups are exposed to graded global hypoxia (7%–4% oxygen) for 15 minutes in a gas chamber.

hypoxic-ischemic
type: Class
subclass of: structural etiology
has definition: Hypoxic-ischemic structural brain abnormalities include loss of cerebral volume and scarring ('gliosis'). Acute seizures typically occur, maximal in the first 24 hours of the hypoxic-ischemic event. If epilepsy occurs following hypoxic-ischemic brain injury, there is typically a latent period after the hypoxic-ischemic event, followed by emergence of seizures.
from ILAE: true

Axiom
annotated source: hypoxic-ischemic
annotated property: hasDefinition
annotated target: Hypoxic-ischemic structural brain abnormalities include loss of cerebral volume and scarring ('gliosis'). Acute seizures typically occur, maximal in the first 24 hours of the hypoxic-ischemic event. If epilepsy occurs following hypoxic-ischemic brain injury, there is typically a latent period after the hypoxic-ischemic event, followed by emergence of seizures.

hypoxic and ischemic injury
type: Class
subclass of: hypoxic-ischemic
has definition: Hypoxic-ischemic brain injury can occur due to many causes and at any age in life. It can cause acute seizures at the time of the injury, as well as epilepsy as a longer-term complication.
alternative_term: Hypoxic Ischemic Injury
from ILAE: true

Axiom
annotated source: hypoxic and ischemic injury
annotated property: hasDefinition
annotated target: Hypoxic-ischemic brain injury can occur due to many causes and at any age in life. It can cause acute seizures at the time of the injury, as well as epilepsy as a longer-term complication.

ictal or post-ictal cardiac abnormality
type: Class
subclass of: cardiovascular system symptom
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26038597
has definition: Seizure-related cardiac arrhythmias are frequently reported and have been implicated as potential pathomechanisms of Sudden Unexpected Death in Epilepsy (SUDEP). Sinus tachycardia is the most common cardiac consequence of epileptic seizures and may occur in up to 80% of seizures. It may be associated with palpitations, but not with clinical signs such as syncope. Of all clinically relevant ictal arrhythmias, ictal asystole has gained much attention as it may cause syncope and subsequent falls, fractures and traffic accidents.
alternative_term: Seizure-related cardiac arrhythmias
comment on definition: Modified definition
from pub med: true

ictal or post-ictal respiratory abnormality
type: Class
subclass of: respiratory system and chest symptom
has definition: Seizure-related respiratory dysfunction may play a critical role in the pathophysiology of sudden unexpected death in epilepsy (SUDEP). In the majority of observed SUDEP cases, there is some evidence of breathing difficulty prior to death. In addition, simultaneous recording of respiratory function in patients undergoing video-EEG monitoring has shown that abnormalities, such as hypoxemia, apnea, and hypercarbia, are commonly seen following seizures
alternative_term: Seizure-related respiratory dysfunction
from article: true

Axiom
annotated source: ictal or post-ictal respiratory abnormality
annotated property: hasDefinition
annotated target: Seizure-related respiratory dysfunction may play a critical role in the pathophysiology of sudden unexpected death in epilepsy (SUDEP). In the majority of observed SUDEP cases, there is some evidence of breathing difficulty prior to death. In addition, simultaneous recording of respiratory function in patients undergoing video-EEG monitoring has shown that abnormalities, such as hypoxemia, apnea, and hypercarbia, are commonly seen following seizures

ictal pattern
type: Class
subclass of: EEG with generalized epileptiform discharges
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26304794
has definition: EEG pattern of an ictal event
from pub med: true

Axiom
annotated source: ictal pattern
annotated property: hasDefinition
annotated target: EEG pattern of an ictal event

immediate and early post cerebral insult seizure
type: Class
subclass of: seizure
has definition: Seizures and epilepsy are common sequelae of acute brain insults such as stroke, traumatic brain injury, and central nervous system infections. Early, or acute symptomatic, seizures occur at the time of the brain insult and may be a marker of severity of injury.
from pub med: true

Axiom
annotated source: immediate and early post cerebral insult seizure
annotated property: hasDefinition
annotated target: Seizures and epilepsy are common sequelae of acute brain insults such as stroke, traumatic brain injury, and central nervous system infections. Early, or acute symptomatic, seizures occur at the time of the brain insult and may be a marker of severity of injury.

immediate and early post traumatic seizure
type: Class
subclass of: seizure not necessarily requiring a diagnosis of epilepsy
has definition: Posttraumatic seizures are commonly derived into three classes: ‘immediate seizures’, ‘early seizures’, and ‘late seizures’. Immediate seizures refer to those that happen at or minutes after impact; seizures that occur one week after head injury are called early seizures, and late posttraumatic seizures are defined as those occurring >1 week after injury.
from pub med: true

Axiom
annotated source: immediate and early post traumatic seizure
annotated property: hasDefinition
annotated target: Posttraumatic seizures are commonly derived into three classes: ‘immediate seizures’, ‘early seizures’, and ‘late seizures’. Immediate seizures refer to those that happen at or minutes after impact; seizures that occur one week after head injury are called early seizures, and late posttraumatic seizures are defined as those occurring >1 week after injury.

immune etiology
type: Class
subclass of: Etiology
has definition: Immune epilepsies are conceptualized as having a distinct immune-mediated etiology with evidence of central nervous system inflammation, that has been demonstrated to be associated with a substantially increased risk of developing epilepsy.
from ILAE: true

Axiom
annotated source: immune etiology
annotated property: hasDefinition
annotated target: Immune epilepsies are conceptualized as having a distinct immune-mediated etiology with evidence of central nervous system inflammation, that has been demonstrated to be associated with a substantially increased risk of developing epilepsy.

in silico model
type: Class
subclass of: Transgenic Model
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/22995680
has definition: In silico modelling, in which computer models are developed to model a pharmacologic or physiologic process, is a logical extension of controlled in vitro experimentation.
from pub med: true

Axiom
annotated source: in silico model
annotated property: hasDefinition
annotated target: In silico modelling, in which computer models are developed to model a pharmacologic or physiologic process, is a logical extension of controlled in vitro experimentation.

infantile behavior
type: Class
subclass of: behavioral symptom
has definition: Like, suitable for, or characteristic of an infant; babyish; childish or childlike; immature
alternative_term: infantile
from ESSO: true

Axiom
annotated source: infantile behavior
annotated property: hasDefinition
annotated target: Like, suitable for, or characteristic of an infant; babyish; childish or childlike; immature

infectious cause of seizure
type: Class
subclass of: Risk Factor
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26423537
from pub med: true

infectious etiology
type: Class
subclass of: Etiology
has definition: Immune epilepsies are conceptualized as having a distinct immune-mediated etiology with evidence of central nervous system inflammation, that has been demonstrated to be associated with a substantially increased risk of developing epilepsy.
from ILAE: true

Axiom
annotated source: infectious etiology
annotated property: hasDefinition
annotated target: Immune epilepsies are conceptualized as having a distinct immune-mediated etiology with evidence of central nervous system inflammation, that has been demonstrated to be associated with a substantially increased risk of developing epilepsy.

inhibitory motor seizure
type: Class
subclass of: seizure
has definition: Inhibitory motor seizures are ictal motor epileptic events of central paresis usually unilateral mono- or hemiparesis while consciousness is intact. They are reported under a number of different names, which may be confusing. Inhibitory motor seizures are contralateral to the epileptogenic region, and they are usually associated with other subjective or objective manifestations (predominantly sensory or motor clonic), which mainly precede but may also occur concurrently with the paresis.
from article: true

Axiom
annotated source: inhibitory motor seizure
annotated property: hasDefinition
annotated target: Inhibitory motor seizures are ictal motor epileptic events of central paresis usually unilateral mono- or hemiparesis while consciousness is intact. They are reported under a number of different names, which may be confusing. Inhibitory motor seizures are contralateral to the epileptogenic region, and they are usually associated with other subjective or objective manifestations (predominantly sensory or motor clonic), which mainly precede but may also occur concurrently with the paresis.

insular epilepsy
type: Class
subclass of: simple focal seizure
has definition: Insular epilepsy can mimic features of frontal, parietal, or temporal seizures. Insular epilepsy should be considered when a combination of somatosensory, visceral, and motor symptoms is observed early in a seizure.

Axiom
annotated source: insular epilepsy
annotated property: hasDefinition
annotated target: Insular epilepsy can mimic features of frontal, parietal, or temporal seizures. Insular epilepsy should be considered when a combination of somatosensory, visceral, and motor symptoms is observed early in a seizure.

insular lobe seizure
type: Class
subclass of: seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/15329073
has definition: Seizures that arise from any part of the insula and frequently spread to adjacent medial opercular regions which share some functional commonalities with the insula. The best example is the painful seizure, where the ictal discharges often involve the posterior insula as well as the medial parietal operculum and such functional commonality is well supported by the neurophysiological evidence. Therefore, it is often more accurate to describe these as insulo-opercular seizures, rather than strictly insular seizures.
from pub med: true

Axiom
annotated source: insular lobe seizure
annotated property: hasDefinition
annotated target: Seizures that arise from any part of the insula and frequently spread to adjacent medial opercular regions which share some functional commonalities with the insula. The best example is the painful seizure, where the ictal discharges often involve the posterior insula as well as the medial parietal operculum and such functional commonality is well supported by the neurophysiological evidence. Therefore, it is often more accurate to describe these as insulo-opercular seizures, rather than strictly insular seizures.

interictal behavior disorder
type: Class
subclass of: behavioral symptom
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/20161538
has definition: A distinct syndrome of interictal behavior changes occurs in many patients with temporal lobe epilepsy. These changes include alterations in sexual behavior, religiosity, and a tendency toward extensive, and in some cases compulsive, writing and drawing.
alternative_term: Interictal Behavior Syndrome
from article: true
from pub med: true

Axiom
annotated source: interictal behavior disorder
annotated property: hasDefinition
annotated target: A distinct syndrome of interictal behavior changes occurs in many patients with temporal lobe epilepsy. These changes include alterations in sexual behavior, religiosity, and a tendency toward extensive, and in some cases compulsive, writing and drawing.

interictal dysphoric disorder
type: Class
subclass of: psychiatric disorder
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/20161538
has definition: Interictal dysphoric disorder is a proposed epilepsy-specific psychiatric condition characterized by a conglomerate of symptoms such as depression, irritability, euphoria, and anxiety.
from pub med: true

Axiom
annotated source: interictal dysphoric disorder
annotated property: hasDefinition
annotated target: Interictal dysphoric disorder is a proposed epilepsy-specific psychiatric condition characterized by a conglomerate of symptoms such as depression, irritability, euphoria, and anxiety.

intermittent slow activity
type: Class
subclass of: EEG with abnormally slow frequencies
has definition: A slow activity that occurs intermittently and is not caused by drowsiness. Intermittent slow can be irregular or rhythmical.
from ESSO: true

Axiom
annotated source: intermittent slow activity
annotated property: hasDefinition
annotated target: A slow activity that occurs intermittently and is not caused by drowsiness. Intermittent slow can be irregular or rhythmical.

intracranial infection
type: Class
subclass of: infection
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28637636
has definition: intracranial infections progress rapidly and result in significant morbidity and mortality if appropriate therapies are not initiated promptly. Clinical presentations of intracranial infection vary significantly. Common manifestations include altered mental status, seizures, as well as more subtle focal deficits, such as cranial nerve palsies
from pub med: true

Axiom
annotated source: intracranial infection
annotated property: hasDefinition
annotated target: intracranial infections progress rapidly and result in significant morbidity and mortality if appropriate therapies are not initiated promptly. Clinical presentations of intracranial infection vary significantly. Common manifestations include altered mental status, seizures, as well as more subtle focal deficits, such as cranial nerve palsies

invasive preoperative exploration
type: Class
subclass of: Pre-operative Evaluation
has definition: Invasive evaluations play important roles in identifying epileptogenic zones and functional areas in patients with intractable focal epilepsy.
from pub med: true

Axiom
annotated source: invasive preoperative exploration
annotated property: hasDefinition
annotated target: Invasive evaluations play important roles in identifying epileptogenic zones and functional areas in patients with intractable focal epilepsy.

invasive subdural grid monitoring
type: Class
subclass of: invasive preoperative exploration
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/12744361
has definition: Subdural grid recordings provide more accurate delineation of regions of eloquent cortex and epileptogenic foci than do noninvasive strategies or awake craniotomy. The information derived from chronic subdural recordings can be used to plan an aggressive approach to the epileptogenic focus to maximize favorable outcomes
comment on definition: Modified definition
from pub med: true

jitteriness
type: Class
subclass of: Miscellaneous
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/6149233
has definition: Jitteriness is common in the newborn period, commonly occurring in an otherwise well-appearing infant on the first day of life as a transient, self-limiting finding. Medical causes of jitteriness may include hypocalcemia and neonatal abstinence syndrome. Jitteriness can be distinguished from epileptic seizures as it can be increased when the infant is unwrapped, stimulated, startled or crying, but suppresses when the infant is wrapped or the affected limb is held gently.
from ILAE: true

Axiom
annotated source: jitteriness
annotated property: hasDefinition
annotated target: Jitteriness is common in the newborn period, commonly occurring in an otherwise well-appearing infant on the first day of life as a transient, self-limiting finding. Medical causes of jitteriness may include hypocalcemia and neonatal abstinence syndrome. Jitteriness can be distinguished from epileptic seizures as it can be increased when the infant is unwrapped, stimulated, startled or crying, but suppresses when the infant is wrapped or the affected limb is held gently.

kainic acid-induced seizure
type: Class
subclass of: toxic cause of seizure
has definition: Kainic-acid-induced seizures are associated with massive increases in parasympathetic (vagus nerves) and sympathetic (cervical sympathetic ganglion, renal sympathetic nerve, splanchnic nerve, cardiac sympathetic nerve) activity.
from article: true

Axiom
annotated source: kainic acid-induced seizure
annotated property: hasDefinition
annotated target: Kainic-acid-induced seizures are associated with massive increases in parasympathetic (vagus nerves) and sympathetic (cervical sympathetic ganglion, renal sympathetic nerve, splanchnic nerve, cardiac sympathetic nerve) activity.

kainic acid model
type: Class
subclass of: convulsant drug model
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/25228809
has definition: In this model, kainic acid, an L-glutamate analog, the systemic or intracerebral administration of which causes neuronal depolarization and seizures, preferentially targeting the hippocampus.
comment on definition: Modified definition
from pub med: true

lambda wave
type: Class
subclass of: normal EEG pattern
has definition: Lambda waves refer to the sharp, transient waves with a duration of 160 to 250 milliseconds, occuring when an individual's eye is open, coming from occipital regions bilaterally when the individual's eyes are focused on an illuminated or patterned visual field.

Axiom
annotated source: lambda wave
annotated property: hasDefinition
annotated target: Lambda waves refer to the sharp, transient waves with a duration of 160 to 250 milliseconds, occuring when an individual's eye is open, coming from occipital regions bilaterally when the individual's eyes are focused on an illuminated or patterned visual field.

lamotrigine resistant kindled model
type: Class
subclass of: pharmacoresistant epilepsy model
has definition: The LTG-resistant kindled model is one of the most recently and widely investigated for the kindling process and drug resistance. The kindling process depicts epileptogenesis that could be achieved from stimulation either by a low-intensity electric current at the amygdala or by the administration of a subconvulsive dose of a CNS stimulant such as pentylenetetrazole (PTZ), picrotoxin or strychnine once daily or every other day over a period of time to induce a permanent alteration in the epileptogenic sensitivity of the brain
alternative_term: LTG-resistant kindled model
from pub med: true

Axiom
annotated source: lamotrigine resistant kindled model
annotated property: hasDefinition
annotated target: The LTG-resistant kindled model is one of the most recently and widely investigated for the kindling process and drug resistance. The kindling process depicts epileptogenesis that could be achieved from stimulation either by a low-intensity electric current at the amygdala or by the administration of a subconvulsive dose of a CNS stimulant such as pentylenetetrazole (PTZ), picrotoxin or strychnine once daily or every other day over a period of time to induce a permanent alteration in the epileptogenic sensitivity of the brain

language functional magnetic resonance imaging
type: Class
subclass of: functional magnetic resonance imaging
has db x ref: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3420488/
has definition: The use of functional magnetic resonance imaging (fMRI), which is a non-invasive mapping method, to investigate patients’ language function.
alternative_term: language fMRI
comment on definition: Modified definition
from article: true
from pub med: true

language regression due to other etiology
type: Class
subclass of: childhood-onset epilepsy syndrome
from ILAE: true

late-onset benign occipital seizure
type: Class
subclass of: seizure
has definition: Seizures manifest with visual hallucinations and/or blindness, they are frequent, mainly diurnal lasting from seconds to less than three minutes. They may progress to other seizure manifestations, mainly hemiconvulsions. Loss of consciousness may occur with or without convulsions. A postictal headache occurs in 30% of patients. Mean age at onset is 7–8 years, and prognosis is usually good with remission often occurring within two to three years.
has_related_synonym: Late onset childhood occipital epilepsy (Gastaut type)
from EPILONT: true

Axiom
annotated source: late-onset benign occipital seizure
annotated property: hasDefinition
annotated target: Seizures manifest with visual hallucinations and/or blindness, they are frequent, mainly diurnal lasting from seconds to less than three minutes. They may progress to other seizure manifestations, mainly hemiconvulsions. Loss of consciousness may occur with or without convulsions. A postictal headache occurs in 30% of patients. Mean age at onset is 7–8 years, and prognosis is usually good with remission often occurring within two to three years.

late post-traumatic seizure
type: Class
subclass of: seizure
has definition: A seizure more than seven days after a brain injury is called a late post-traumatic seizure. About 80% of people who have a late post-traumatic seizure will have another seizure (epilepsy).
from article: true

Axiom
annotated source: late post-traumatic seizure
annotated property: hasDefinition
annotated target: A seizure more than seven days after a brain injury is called a late post-traumatic seizure. About 80% of people who have a late post-traumatic seizure will have another seizure (epilepsy).

lateral frontal epilepsy
type: Class
subclass of: frontal lobe epilepsy
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/19286474

lateral occipital epilepsy
type: Class
subclass of: occipital lobe epilepsy
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/15788545

lateral parietal epilepsy
type: Class
subclass of: parietal lobe epilepsy
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/23872083

left frontal astrocytoma
type: Class
subclass of: astrocytoma
has definition: Anaplastic astrocytomas developed in the left frontal lobe of the cerebrum. A tumor in the frontal lobe may cause memory problems, changes in personality and mood, and paralysis (hemiplegia) on the side of the body opposite of the tumor.
comment on definition: Modified definition

left hemisphere tumor resection
type: Class
subclass of: surgical procedure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26317672

left mesial temporal lesion
type: Class
subclass of: brain disease
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/21896690

lethargic mouse
type: Class
subclass of: absence seizure model
has definition: Lethargic (lh) mice are spontaneous mutant mice presenting a loss of β4 subunit of voltage-gated calcium channels (VGCC) due to a mutation in the gene encoding for β4, Cacnb4. These lh mice are characterized by a complex phenotype with notably severe neurobehavioral defects.
from article: true

Axiom
annotated source: lethargic mouse
annotated property: hasDefinition
annotated target: Lethargic (lh) mice are spontaneous mutant mice presenting a loss of β4 subunit of voltage-gated calcium channels (VGCC) due to a mutation in the gene encoding for β4, Cacnb4. These lh mice are characterized by a complex phenotype with notably severe neurobehavioral defects.

limbic epilepsy
type: Class
subclass of: symptomatic epilepsy
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/31846897
from EPILONT: true
from pub med: true

lip smacking
type: Class
subclass of: behavioral symptom
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/25667835
has definition: displaying or expressing enjoyment or pleasure, esp at the taste of food or drink
from ESSO: true

Axiom
annotated source: lip smacking
annotated property: hasDefinition
annotated target: displaying or expressing enjoyment or pleasure, esp at the taste of food or drink

lithium-pilocarpine model
type: Class
subclass of: convulsant drug model
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/1324090
has definition: In this model, lithium is used to potentiate the ability of pilocarpine to induce status epilepticus in rats. Lithium followed by pilocarpine, induced hyperactivity, tremor, loss of postural control and scratching but no electrographic seizures in rats.
comment on definition: Modified definition
from pub med: true

loss of awareness
type: Class
subclass of: behavioral symptom
from article: true
from ESSO: true

low magnesium slice model
type: Class
subclass of: In Vitro Model
has definition: Low or zero-Mg2+ is a commonly used in vitro model of epileptiform activity in entorrhinal-hippocampal slices used to determine the effect of drugs on seizure activity and mechanisms of antiepileptiform activity.
from pub med: true

Axiom
annotated source: low magnesium slice model
annotated property: hasDefinition
annotated target: Low or zero-Mg2+ is a commonly used in vitro model of epileptiform activity in entorrhinal-hippocampal slices used to determine the effect of drugs on seizure activity and mechanisms of antiepileptiform activity.

macro-scale model
type: Class
subclass of: deterministic model
has definition: Macroscale models attempt to model the averaged activity an ensemble of neural populations, involving multiple brain regions at the expense of the biophysical realism of the underlying networks.
from pub med: true

Axiom
annotated source: macro-scale model
annotated property: hasDefinition
annotated target: Macroscale models attempt to model the averaged activity an ensemble of neural populations, involving multiple brain regions at the expense of the biophysical realism of the underlying networks.

malaria-related seizure
type: Class
subclass of: infectious cause of seizure
has definition: Malaria-associated seizures (MAS) can occur within two settings, either as isolated seizures within the setting of fever or in the setting of cerebral malaria. In cerebral malaria, other severe neurological symptoms such as coma and cerebral edema are observed, which are probably due to impaired capillary perfusion. In cerebral malaria, seizures can also occur without fever.
from article: true

Axiom
annotated source: malaria-related seizure
annotated property: hasDefinition
annotated target: Malaria-associated seizures (MAS) can occur within two settings, either as isolated seizures within the setting of fever or in the setting of cerebral malaria. In cerebral malaria, other severe neurological symptoms such as coma and cerebral edema are observed, which are probably due to impaired capillary perfusion. In cerebral malaria, seizures can also occur without fever.

mesial frontal epilepsy
type: Class
subclass of: frontal lobe epilepsy
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/23027093
has definition: Mesial frontal lobe epilepsies are epilepsies arising from the anterior cingulate gyrus and those of the supplementary sensorimotor area.
comment on definition: Modified definition
from pub med: true

mesial occipital epilepsy
type: Class
subclass of: occipital lobe epilepsy
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/15788545

mesial parietal epilepsy
type: Class
subclass of: parietal lobe epilepsy
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/23872083
from pub med: true

mesial temporal lobe epilepsy by specific etiology
type: Class
subclass of: limbic epilepsy
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/23027091
from EPILONT: true
from pub med: true

mesial temporal lobe seizure including hippocampus
type: Class
subclass of: temporal lobe seizure
has definition: Seizures that arise in the mesial temporal lobe may be characterized by distinctive seizure onset features such as an autonomic seizure with rising epigastric sensation or abdominal discomfort, or cognitive seizure with deja vu/jamais vu, or emotional seizure with fear. Unpleasant olfactory and gustatory sensory seizures may also occur. These focal seizure types may occur in isolation or may be followed by the onset of behavioral arrest with slowly progressive impairment of awareness and oral (chewing, lip-smacking, swallowing, tongue movements) and manual automatisms.
from ILAE: true

Axiom
annotated source: mesial temporal lobe seizure including hippocampus
annotated property: hasDefinition
annotated target: Seizures that arise in the mesial temporal lobe may be characterized by distinctive seizure onset features such as an autonomic seizure with rising epigastric sensation or abdominal discomfort, or cognitive seizure with deja vu/jamais vu, or emotional seizure with fear. Unpleasant olfactory and gustatory sensory seizures may also occur. These focal seizure types may occur in isolation or may be followed by the onset of behavioral arrest with slowly progressive impairment of awareness and oral (chewing, lip-smacking, swallowing, tongue movements) and manual automatisms.

metabolic etiology
type: Class
subclass of: Etiology
has definition: Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies.
alternative_term: Metabolic Cause
from ILAE: true

Axiom
annotated source: metabolic etiology
annotated property: hasDefinition
annotated target: Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies.

metabolic imaging
type: Class
subclass of: Functional Neuroimaging
has definition: Metabolic imaging is a field of molecular imaging that focuses and targets changes in metabolic pathways for the evaluation of different clinical conditions
from ESSO: true

Axiom
annotated source: metabolic imaging
annotated property: hasDefinition
annotated target: Metabolic imaging is a field of molecular imaging that focuses and targets changes in metabolic pathways for the evaluation of different clinical conditions

metaldehyde-induced seizure
type: Class
subclass of: toxic cause of seizure
has definition: Metaldehyde-induced seizures.
from pub med: true

Axiom
annotated source: metaldehyde-induced seizure
annotated property: hasDefinition
annotated target: Metaldehyde-induced seizures.

metallic taste hallucination
type: Class
subclass of: Gustatory Hallucination
has definition: Metallic taste perceived in the oral cavity independent of any external stimuli.
from ESSO: true

Axiom
annotated source: metallic taste hallucination
annotated property: hasDefinition
annotated target: Metallic taste perceived in the oral cavity independent of any external stimuli.

methoxypyridoxine model
type: Class
subclass of: convulsant drug model
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/6133913
has definition: Animal model in which generalized seizures are induced by methoxypyridoxine.
comment on definition: Modified definition
from pub med: true

micro-scale model
type: Class
subclass of: deterministic model
has definition: Micro-scale models are typically confined to neuronal networks within a given brain region, such as the hippocampus and aim to preserve the biophysical reality of neuronal dynamics.
from pub med: true

Axiom
annotated source: micro-scale model
annotated property: hasDefinition
annotated target: Micro-scale models are typically confined to neuronal networks within a given brain region, such as the hippocampus and aim to preserve the biophysical reality of neuronal dynamics.

midline theta rhythm
type: Class
subclass of: rhythmic benign variant
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK390352/
has definition: Midline theta rhythm occurs as a focal rhythm over the midline region and usually is most prominant in the central vertex lead.
from NCBI book: true

Axiom
annotated source: midline theta rhythm
annotated property: hasDefinition
annotated target: Midline theta rhythm occurs as a focal rhythm over the midline region and usually is most prominant in the central vertex lead.

migraine associated disorder
type: Class
subclass of: epilepsy imitator
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK98193/
has definition: Migraine associated with other illnesses.
comment on definition: Modified definition
from ILAE: true
from NCBI book: true

mini-international neuropsychiatric interview
type: Class
subclass of: Research or Clinical Assessment Tool
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/24632481
has definition: The Mini-international neuropsychiatric interview is a short structured clinical interview which enables researchers to make diagnoses of psychiatric disorders according to DSM-IV (Diagnostic and Statistical Manual of Mental Disorders) or ICD-10. The administration time of the interview is approximately 15 minutes and was designed for epidemiological studies and multicenter clinical trials.
from pub med: true

Axiom
annotated source: mini-international neuropsychiatric interview
annotated property: hasDefinition
annotated target: The Mini-international neuropsychiatric interview is a short structured clinical interview which enables researchers to make diagnoses of psychiatric disorders according to DSM-IV (Diagnostic and Statistical Manual of Mental Disorders) or ICD-10. The administration time of the interview is approximately 15 minutes and was designed for epidemiological studies and multicenter clinical trials.

mixed spasm
type: Class
subclass of: Muscle spasm
has definition: Mixed spasms are the most common type, consisting of flexion of the neck and arms and extension of the legs or of flexion of the legs and extension of the arms.
from ESSO: true

Axiom
annotated source: mixed spasm
annotated property: hasDefinition
annotated target: Mixed spasms are the most common type, consisting of flexion of the neck and arms and extension of the legs or of flexion of the legs and extension of the arms.

moan
type: Class
subclass of: behavior
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/20627816
has definition: To make a long, low sound of pain, suffering, or another strong emotion.
from ESSO: true
from pub med: true

Axiom
annotated source: moan
annotated property: hasDefinition
annotated target: To make a long, low sound of pain, suffering, or another strong emotion.

monomorphic wave
type: Class
subclass of: Brain Waves
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/1915173
has definition: Distinct EEG activity appearing to be composed of one dominant activity.
comment on definition: Modified definition
from article: true

mu rhythm
type: Class
subclass of: normal EEG pattern
has definition: Mu rhythm refers to central rhythm of alpha activity frequency (usually 8 to 10 hz) in which the individual waves have an arch like shape.

Axiom
annotated source: mu rhythm
annotated property: hasDefinition
annotated target: Mu rhythm refers to central rhythm of alpha activity frequency (usually 8 to 10 hz) in which the individual waves have an arch like shape.

multifocal epilepsy
type: Class
subclass of: epilepsy
has definition: Multifocal epileptic activity is an unfavourable feature of a number of epileptic syndromes (Lennox-Gastaut syndrome, West syndrome, severe focal epilepsies) which suggests an overall vulnerability of the brain to pathological synchronization.
from article: true

multilobar resection
type: Class
subclass of: surgical procedure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/9757434
has definition: Multilobar resectionis a surgical option available for the treatment of medically intractable seizures arising from a diffuse area of epileptogenicity that remains unilateral but extends beyond one lobe.
comment on definition: Modified definition
from pub med: true

multiple sleep latency test
type: Class
subclass of: therapeutic procedure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/8194189
has definition: The multiple sleep latency test (MSLT) tests for excessive daytime sleepiness by measuring how quickly you fall asleep in a quiet environment during the day.
alternative_term: Daytime nap study
from pub med: true

Axiom
annotated source: multiple sleep latency test
annotated property: hasDefinition
annotated target: The multiple sleep latency test (MSLT) tests for excessive daytime sleepiness by measuring how quickly you fall asleep in a quiet environment during the day.

multiple subpial transection
type: Class
subclass of: surgical procedure
has definition: Multiple subpial transection (MST) is a novel technique in surgery for epilepsy, employed in patients where some or all of the epileptogenic zone cannot be resected because it lies in a vital cortical area.
from article: true
from pub med: true

Axiom
annotated source: multiple subpial transection
annotated property: hasDefinition
annotated target: Multiple subpial transection (MST) is a novel technique in surgery for epilepsy, employed in patients where some or all of the epileptogenic zone cannot be resected because it lies in a vital cortical area.

music hallucination
type: Class
subclass of: auditory hallucination
has definition: Musical hallucination (MH) is the experience of hearing music when none is being played.
from ESSO: true

Axiom
annotated source: music hallucination
annotated property: hasDefinition
annotated target: Musical hallucination (MH) is the experience of hearing music when none is being played.

music tone
type: Class
subclass of: auditory hallucination
from ESSO: true

myoclonic absence status epilepticus
type: Class
subclass of: generalized non convulsive status epilepticus without coma
has definition: Myoclonic absence status epilepticus consists of proximal, predominantly upper extremity myoclonic jerks corresponding with 3 Hz spike-wave discharges in the EEG. It can last hours or even days and is usually resistant to therapy.
from article: true

Axiom
annotated source: myoclonic absence status epilepticus
annotated property: hasDefinition
annotated target: Myoclonic absence status epilepticus consists of proximal, predominantly upper extremity myoclonic jerks corresponding with 3 Hz spike-wave discharges in the EEG. It can last hours or even days and is usually resistant to therapy.

negative motor seizure
type: Class
subclass of: seizure
has definition: Seizure manifesting motor arrest, that is, negative motor seizure (NMS), is a rare epileptic condition in which only inability to conduct voluntary movements or praxis is produced, although consciousness is preserved. The negative motor area (NMA) seems to be responsible, but its generator mechanism has not yet been clarified.
from pub med: true

Axiom
annotated source: negative motor seizure
annotated property: hasDefinition
annotated target: Seizure manifesting motor arrest, that is, negative motor seizure (NMS), is a rare epileptic condition in which only inability to conduct voluntary movements or praxis is produced, although consciousness is preserved. The negative motor area (NMA) seems to be responsible, but its generator mechanism has not yet been clarified.

negative visual illusion
type: Class
subclass of: Abnormality of vision
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/12908748
from ESSO: true
from pub med: true

neocortical epilepsy
type: Class
subclass of: symptomatic epilepsy
has definition: Neocortical epilepsy is a type of seizure disorder that can be either partial (focal) or generalized, in which the seizures originate in the neocortex, part of the external surface layer of the brain. Neocortical epilepsy differs from other kinds of epilepsy because often there is no clearly defined area from which the seizures originate.
from EPILONT: true

Axiom
annotated source: neocortical epilepsy
annotated property: hasDefinition
annotated target: Neocortical epilepsy is a type of seizure disorder that can be either partial (focal) or generalized, in which the seizures originate in the neocortex, part of the external surface layer of the brain. Neocortical epilepsy differs from other kinds of epilepsy because often there is no clearly defined area from which the seizures originate.

neonatal hypoxia model
type: Class
subclass of: Rodent Model of Disease
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/25228809
has definition: In this model neonatal animals were exposed to graded global hypoxia to develop spontaneous seizures later in life, as well as mossy fiber sprouting and long-term behavioral alterations, including social deficits, memory impairments, and aggressiveness. Despite the lack of early neuronal injury, hypoxia-induced seizures promote hyperexcitability immediately after seizure recovery, facilitating long-term potentiation induction and generating longer ADs. Increased excitability persists in the adult hippocampus, suggesting that the epileptogenic effects of hypoxia are mediated by permanent effects on excitability and plasticity within hippocampal networks.
comment on definition: Modified definition
from pub med: true

neurological disorders depression inventory for epilepsy
type: Class
subclass of: Research or Clinical Assessment Tool
has definition: The Neurological Disorders Depression Inventory for Epilepsy (NDDI-E) was developed and proven efficient for the rapid detection of a major depressive episode in people with epilepsy.
from pub med: true

Axiom
annotated source: neurological disorders depression inventory for epilepsy
annotated property: hasDefinition
annotated target: The Neurological Disorders Depression Inventory for Epilepsy (NDDI-E) was developed and proven efficient for the rapid detection of a major depressive episode in people with epilepsy.

neurological syncope
type: Class
subclass of: Syncope
has definition: Neurological causes of syncope include Chiari malformation, hyperekplexia (startle disease) and paroxysmal extreme pain disorder. With a Chiari malformation, coughing and straining on the toilet may trigger a transient loss of consciousness similar to a syncope. The exact mechanism is uncertain but increased downward herniation of the brain may compress the vertebro-basilar arteries and cranial nerves IX and X. A history of chronic headache and sensory symptoms associated with the collapse should lead to consideration of neuroimaging as decompression surgery can be curative.
from ILAE: true

Axiom
annotated source: neurological syncope
annotated property: hasDefinition
annotated target: Neurological causes of syncope include Chiari malformation, hyperekplexia (startle disease) and paroxysmal extreme pain disorder. With a Chiari malformation, coughing and straining on the toilet may trigger a transient loss of consciousness similar to a syncope. The exact mechanism is uncertain but increased downward herniation of the brain may compress the vertebro-basilar arteries and cranial nerves IX and X. A history of chronic headache and sensory symptoms associated with the collapse should lead to consideration of neuroimaging as decompression surgery can be curative.

non-deterministic model
type: Class
subclass of: in silico model
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/22995680
has definition: Non-deterministic models comes under the category of computaional model that aims to capture the inherent variability of the recorded brain activity.
comment on definition: Modified definition
from pub med: true

non-epileptic head drop
type: Class
subclass of: Miscellaneous
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/23531441
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/2369876
has definition: Non-epileptic head drops can occur in infants and may mimic epileptic spasms or atonic seizures. Infants typically experience frequent (more than a hundred) events per day, the head drop can be intense, may occur in a series (resulting in head bobbing) and may be accompanied by crying. The fall of the head (flexion of the neck) and rise of the head occur at the same velocity unlike in an epileptic seizure where the fall of the head is typically more rapid than the rise of the head. Non-epileptic head drops begin between age 3 - 6 months, and resolve by 12 months. Infants develop normally.
from ILAE: true
from pub med: true

Axiom
annotated source: non-epileptic head drop
annotated property: hasDefinition
annotated target: Non-epileptic head drops can occur in infants and may mimic epileptic spasms or atonic seizures. Infants typically experience frequent (more than a hundred) events per day, the head drop can be intense, may occur in a series (resulting in head bobbing) and may be accompanied by crying. The fall of the head (flexion of the neck) and rise of the head occur at the same velocity unlike in an epileptic seizure where the fall of the head is typically more rapid than the rise of the head. Non-epileptic head drops begin between age 3 - 6 months, and resolve by 12 months. Infants develop normally.

non-epileptic seizure
type: Class
subclass of: Behavioral Disorder
has definition: Non-epileptic seizures (previously known as non-epileptic attacks, psychogenic seizures and pseudoseizures) resemble epileptic seizures, but have no electrophysiological correlate or clinical evidence for epilepsy. The etiology of non-epileptic seizures is heterogeneous, with different predisposing, precipitating and promoting factors in different affected individuals. Psychogenic factors may promote the emergence of non-epileptic seizures, but psychogenic factors may not be able to be identified in all cases. The seizure-like event may include movement or impaired awareness, and can imitate focal motor seizures or focal impaired awareness seizures. Motor features that distinguish these attacks from seizures include a prominence of proximal or truncal movements, waxing and waning pattern of movements, variable rate and direction of jerking, horizontal movements of the head, crying during or after the event, and eye closure with resistance to passive eye opening. Diagnosing non-epileptic seizures is important because of the potential serious side effects of anti-seizure medications and associated procedures for treating epilepsy such as intubation and ventilation. The failure to recognize the psychological factors contributing to these events also delays implementation of appropriate psychological treatment. Video EEG monitoring and concomitant psychological evaluation is typically required to establish the diagnosis and the treatment plan.
from ILAE: true

Axiom
annotated source: non-epileptic seizure
annotated property: hasDefinition
annotated target: Non-epileptic seizures (previously known as non-epileptic attacks, psychogenic seizures and pseudoseizures) resemble epileptic seizures, but have no electrophysiological correlate or clinical evidence for epilepsy. The etiology of non-epileptic seizures is heterogeneous, with different predisposing, precipitating and promoting factors in different affected individuals. Psychogenic factors may promote the emergence of non-epileptic seizures, but psychogenic factors may not be able to be identified in all cases. The seizure-like event may include movement or impaired awareness, and can imitate focal motor seizures or focal impaired awareness seizures. Motor features that distinguish these attacks from seizures include a prominence of proximal or truncal movements, waxing and waning pattern of movements, variable rate and direction of jerking, horizontal movements of the head, crying during or after the event, and eye closure with resistance to passive eye opening. Diagnosing non-epileptic seizures is important because of the potential serious side effects of anti-seizure medications and associated procedures for treating epilepsy such as intubation and ventilation. The failure to recognize the psychological factors contributing to these events also delays implementation of appropriate psychological treatment. Video EEG monitoring and concomitant psychological evaluation is typically required to establish the diagnosis and the treatment plan.

non-invasive assessment of language dominance
type: Class
subclass of: Research or Clinical Assessment Tool
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/9109891
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/9832214
has definition: Non-invasive method to assess the hemispheric dominance for language.
comment on definition: Modified definition
from pub med: true

non-invasive epileptic focus localization
type: Class
subclass of: non-invasive preoperative evaluation
has definition: Non-invasive localization of focal epileptogenic discharges in patients considered for surgical treatment.
from pub med: true

Axiom
annotated source: non-invasive epileptic focus localization
annotated property: hasDefinition
annotated target: Non-invasive localization of focal epileptogenic discharges in patients considered for surgical treatment.

non-invasive multichannel magnetoencephalography
type: Class
subclass of: non-invasive preoperative evaluation
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/7631075
from pub med: true

non-invasive preoperative evaluation
type: Class
subclass of: Pre-operative Evaluation
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/27627857
has definition: Non-invasive pre-surgical evaluation.
comment on definition: Modified definition
from pub med: true

non-pharmacological treatment of epilepsy
type: Class
subclass of: treatment
has definition: Non-pharmacological treatment of epilepsy includes surgery, vagal nerve stimulation, ketogenic diet, and other alternative/complementary therapies. Alternative therapies include techniques such as yoga, acupuncture, chiropractic, massage therapy, EEG biofeedback, aromatherapy, homeopathy, herbal remedies (traditional Chinese medicine), etc. Most people with epilepsy need to take antiepileptic medication to control their seizures and alternative therapies are more often complementary.
from pub med: true

Axiom
annotated source: non-pharmacological treatment of epilepsy
annotated property: hasDefinition
annotated target: Non-pharmacological treatment of epilepsy includes surgery, vagal nerve stimulation, ketogenic diet, and other alternative/complementary therapies. Alternative therapies include techniques such as yoga, acupuncture, chiropractic, massage therapy, EEG biofeedback, aromatherapy, homeopathy, herbal remedies (traditional Chinese medicine), etc. Most people with epilepsy need to take antiepileptic medication to control their seizures and alternative therapies are more often complementary.

non-surgical stimulation
type: Class
subclass of: therapeutic procedure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/24163755
has definition: Non-surgical brain stimulation refers to techniques that use electrical currents or magnetic fields to change brain activity
comment on definition: Modified definition
from pub med: true

non dominant parietal cortex seizure
type: Class
subclass of: parietal lobe seizure
has definition: Seizures may be characterized by body image distortions with feelings of movement (e.g. floating) or altered posture (e.g. twisting movement) in a stationary limb. Somatic illusions such as feeling of a body part being enlarged (macrosomatognosia), shrunken (microsomatognosia) or absent (asomatognosia), or elongated (hyperschematica) or shortened (hyposchematica) may also occur. Distal body parts and the tongue are more commonly affected.
from article: true
from ILAE: true

Axiom
annotated source: non dominant parietal cortex seizure
annotated property: hasDefinition
annotated target: Seizures may be characterized by body image distortions with feelings of movement (e.g. floating) or altered posture (e.g. twisting movement) in a stationary limb. Somatic illusions such as feeling of a body part being enlarged (macrosomatognosia), shrunken (microsomatognosia) or absent (asomatognosia), or elongated (hyperschematica) or shortened (hyposchematica) may also occur. Distal body parts and the tongue are more commonly affected.

normal EEG pattern
type: Class
subclass of: electroencephalography
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK390343/
has definition: The electroencephalogram (EEG) is a recording of the electrical activity of the brain from the scalp. The recorded waveforms reflect the cortical electrical activity.Signal intensity: EEG activity is quite small, measured in microvolts (mV). Signal frequency: the main frequencies of the human EEG waves are, Delta, Theta, Alpha, Beta.

Axiom
annotated source: normal EEG pattern
annotated property: hasDefinition
annotated target: The electroencephalogram (EEG) is a recording of the electrical activity of the brain from the scalp. The recorded waveforms reflect the cortical electrical activity.Signal intensity: EEG activity is quite small, measured in microvolts (mV). Signal frequency: the main frequencies of the human EEG waves are, Delta, Theta, Alpha, Beta.

object distortion
type: Class
subclass of: Abnormality of vision
from ESSO: true

object spatial inclination
type: Class
subclass of: Abnormality of vision
from ESSO: true

occipital intermittent rhythmic delta activity
type: Class
subclass of: EEG abnormality
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/12684556
has definition: Fairly regular or approximately sinusoidal waves, mostly occurring in bursts at 2-3 Hz over the occipital areas of one or both sides of the head.
has definition: Occipital intermittent rhythmic delta activity (OIRDA) is described as an intermittent, sawtooth shaped, unilateral or bilateral, symmetrical, medium or high amplitude, paroxysmal and regular delta frequency activity occurring in the occipital region during electroencephalography (EEG) monitorization
from ESSO: true
from pub med: true

Axiom
annotated source: occipital intermittent rhythmic delta activity
annotated property: hasDefinition
annotated target: Fairly regular or approximately sinusoidal waves, mostly occurring in bursts at 2-3 Hz over the occipital areas of one or both sides of the head.

Axiom
annotated source: occipital intermittent rhythmic delta activity
annotated property: hasDefinition
annotated target: Occipital intermittent rhythmic delta activity (OIRDA) is described as an intermittent, sawtooth shaped, unilateral or bilateral, symmetrical, medium or high amplitude, paroxysmal and regular delta frequency activity occurring in the occipital region during electroencephalography (EEG) monitorization

occipital lobe epilepsy
type: Class
subclass of: epilepsy
has definition: Occipital lobe epilepsy is a relatively rare form of focal epilepsy, with a variety of causes. Paroxysmal visual manifestations are the hallmark of epileptic seizures arising from the occipital lobe.
from ESSO: true

Axiom
annotated source: occipital lobe epilepsy
annotated property: hasDefinition
annotated target: Occipital lobe epilepsy is a relatively rare form of focal epilepsy, with a variety of causes. Paroxysmal visual manifestations are the hallmark of epileptic seizures arising from the occipital lobe.

occipital lobe seizure
type: Class
subclass of: seizure based on lobar localization
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/15489401
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/23027097
has definition: Seizures arising in the occipital lobe are characterized by focal sensory visual seizures that are subjective experiences, leading to difficulty in diagnosis in young children. Oculomotor features may also occur such as forced eye closure, eyelid fluttering, eye deviation and nystagmus. There is often involvement of other lobes as the seizure spreads.
from ILAE: true

Axiom
annotated source: occipital lobe seizure
annotated property: hasDefinition
annotated target: Seizures arising in the occipital lobe are characterized by focal sensory visual seizures that are subjective experiences, leading to difficulty in diagnosis in young children. Oculomotor features may also occur such as forced eye closure, eyelid fluttering, eye deviation and nystagmus. There is often involvement of other lobes as the seizure spreads.

occipital pole epilepsy
type: Class
subclass of: lateral occipital epilepsy
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/9128446
from pub med: true

occular oscillation
type: Class
subclass of: Abnormality of eye movement
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/835966
from ESSO: true

oligoantigenic diet
type: Class
subclass of: Diet Therapy
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/2909707
has definition: The oligoantigenic diet was developed at Great Ormond Street Hospital for Sick Children, London and at Addenbrooke's Hospital, Cambridge, as a means of identifying foods which might be causing or aggravating the conditions of young patients.
from pub med: true

Axiom
annotated source: oligoantigenic diet
annotated property: hasDefinition
annotated target: The oligoantigenic diet was developed at Great Ormond Street Hospital for Sick Children, London and at Addenbrooke's Hospital, Cambridge, as a means of identifying foods which might be causing or aggravating the conditions of young patients.

orbito frontal epilepsy
type: Class
subclass of: frontal lobe epilepsy
has definition: Orbitofrontal epilepsy presents with either frontal lobe type seizures with hypermotor automatism or temporal lobe type seizures with oroalimentary and manual automatisms depending on the spread pattern.
alternative_term: Hypermotor Seizure

Axiom
annotated source: orbito frontal epilepsy
annotated property: hasDefinition
annotated target: Orbitofrontal epilepsy presents with either frontal lobe type seizures with hypermotor automatism or temporal lobe type seizures with oroalimentary and manual automatisms depending on the spread pattern.

orbitofrontal cortex seizure
type: Class
subclass of: frontal lobe seizure
has definition: Impaired awareness, initial repetitive automatisms, olfactory hallucinations and illusions and autonomic features may be seen.
from ILAE: true

Axiom
annotated source: orbitofrontal cortex seizure
annotated property: hasDefinition
annotated target: Impaired awareness, initial repetitive automatisms, olfactory hallucinations and illusions and autonomic features may be seen.

organophosphates model
type: Class
subclass of: Rodent Model of Disease
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/24881594
has definition: In vitro models generated to study the toxic effects of various types of organophosphate (OP) neurotoxicants on cell and tissue culture.
comment on definition: Modified definition
from pub med: true

organotypic slice cultures
type: Class
subclass of: In Vitro Model
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/23384238
has definition: Organotypic brain slice cultures (BSCs) represent a physiologically relevant three-dimensional model of the brain.
from pub med: true

Axiom
annotated source: organotypic slice cultures
annotated property: hasDefinition
annotated target: Organotypic brain slice cultures (BSCs) represent a physiologically relevant three-dimensional model of the brain.

out of body experience
type: Class
subclass of: Behavioral Disorder
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/24592228
has definition: Out of body experiences are described in childhood and adulthood. In the episodes a person appears to lose immediate contact with their bodies and may see himself or herself from above. Such hallucinations have been described in epileptic seizures, anoxic seizures, migraine and as a 'normal' phenomenon.
from ILAE: true
from pub med: true

Axiom
annotated source: out of body experience
annotated property: hasDefinition
annotated target: Out of body experiences are described in childhood and adulthood. In the episodes a person appears to lose immediate contact with their bodies and may see himself or herself from above. Such hallucinations have been described in epileptic seizures, anoxic seizures, migraine and as a 'normal' phenomenon.

palinopsia
type: Class
subclass of: Abnormality of vision
has definition: Palinopsia is a distortion of processing in the visual system in which images persist or recur after the visual stimulus has been removed. It is a dysfunction of the association areas at the junction of temporal, occipital and parietal lobes and can be triggered by any lesion or dysfunction in this region.

Axiom
annotated source: palinopsia
annotated property: hasDefinition
annotated target: Palinopsia is a distortion of processing in the visual system in which images persist or recur after the visual stimulus has been removed. It is a dysfunction of the association areas at the junction of temporal, occipital and parietal lobes and can be triggered by any lesion or dysfunction in this region.

paracentral lobule seizure
type: Class
subclass of: parietal lobe seizure
has definition: Seizures arising in the non-dominant hemisphere may be characterized by sexual sensations affecting the genitalia. The subsequent phase of the seizure may be accompanied by sexualized behavior.
from ILAE: true

Axiom
annotated source: paracentral lobule seizure
annotated property: hasDefinition
annotated target: Seizures arising in the non-dominant hemisphere may be characterized by sexual sensations affecting the genitalia. The subsequent phase of the seizure may be accompanied by sexualized behavior.

parahippocampal epilepsy
type: Class
subclass of: temporal lobe epilepsy
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/19453720
from pub med: true

parasitic cyst
type: Class
subclass of: infection
has db x ref: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5321155/
from pub med: true

parietal lobe epilepsy
type: Class
subclass of: simple focal seizure
has definition: Parietal lobe epilepsy is a relatively rare form, occurring in about 5 percent of all epilepsy patients, and affects the part of the brain responsible for touch perception, sensory information and visual perception (distinguishing amongst objects). The parietal lobe also is involved in language, writing and math skills. It can occur at any age and affects males and females at an equal rate. Causes of parietal lobe epilepsy include head trauma, difficulties during childbirth, stroke and tumor, though as many as 20 percent of parietal lobe epilepsy outcomes are of unknown origin.
from ESSO: true

Axiom
annotated source: parietal lobe epilepsy
annotated property: hasDefinition
annotated target: Parietal lobe epilepsy is a relatively rare form, occurring in about 5 percent of all epilepsy patients, and affects the part of the brain responsible for touch perception, sensory information and visual perception (distinguishing amongst objects). The parietal lobe also is involved in language, writing and math skills. It can occur at any age and affects males and females at an equal rate. Causes of parietal lobe epilepsy include head trauma, difficulties during childbirth, stroke and tumor, though as many as 20 percent of parietal lobe epilepsy outcomes are of unknown origin.

parietal lobe seizure
type: Class
subclass of: seizure based on lobar localization
has definition: Seizures with onset in the parietal lobe.
from ILAE: true

Axiom
annotated source: parietal lobe seizure
annotated property: hasDefinition
annotated target: Seizures with onset in the parietal lobe.

parieto-occipital junction seizure
type: Class
subclass of: occipital lobe seizure
subclass of: parietal lobe seizure
has definition: Epileptic nystagmus may be seen. If nystagmus is seen, this is typically with the fast component to the side contralateral to the hemisphere of seizure onset and the slow component returning to the ipsilateral side. Eye movements typically occur with retained awareness, and may be accompanied by head or trunk version. There may also be eyelid flutter or forced eyelid closure.
from ILAE: true

Axiom
annotated source: parieto-occipital junction seizure
annotated property: hasDefinition
annotated target: Epileptic nystagmus may be seen. If nystagmus is seen, this is typically with the fast component to the side contralateral to the hemisphere of seizure onset and the slow component returning to the ipsilateral side. Eye movements typically occur with retained awareness, and may be accompanied by head or trunk version. There may also be eyelid flutter or forced eyelid closure.

parieto occipital epilepsy
type: Class
subclass of: epilepsy
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30909077
has definition: Seizures with a parietal and/or occipital onset.
comment on definition: Modified definition

paroxysmal dystonia model
type: Class
subclass of: Transgenic Model
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/2779593
has definition: Animal models characterized by abnormal co-contractions of antagonistic muscle groups that produce twisting movements and abnormal postures.
from pub med: true

Axiom
annotated source: paroxysmal dystonia model
annotated property: hasDefinition
annotated target: Animal models characterized by abnormal co-contractions of antagonistic muscle groups that produce twisting movements and abnormal postures.

paroxysmal exercise induced dyskinesia
type: Class
subclass of: rare paroxysmal movement disorder
has definition: Paroxysmal exercise induced dyskinesia represents a genetically heterogenous group of conditions in which dystonia or choreoathetosis are triggered by exercise. It may be inherited in an autosomal dominant manner or present as a sporadic case. Attacks may last several minutes to half an hour and more frequently affect the lower than upper limbs. This is one of the many phenotypes associated with glucose transporter 1 (GLUT1) deficiency which is typically caused by mutations in the SLC2A1 gene.
from ILAE: true

Axiom
annotated source: paroxysmal exercise induced dyskinesia
annotated property: hasDefinition
annotated target: Paroxysmal exercise induced dyskinesia represents a genetically heterogenous group of conditions in which dystonia or choreoathetosis are triggered by exercise. It may be inherited in an autosomal dominant manner or present as a sporadic case. Attacks may last several minutes to half an hour and more frequently affect the lower than upper limbs. This is one of the many phenotypes associated with glucose transporter 1 (GLUT1) deficiency which is typically caused by mutations in the SLC2A1 gene.

paroxysmal kinesigenic dyskinesia
type: Class
subclass of: rare paroxysmal movement disorder
has definition: Paroxysmal kinesigenic dyskinesia is a hyperkinetic movement disorder characterised by brief (less than 1 minute) attacks of abnormal movements triggered by a sudden normal movement. The triggering movements are typically whole body movements and can include standing up from sitting or getting out of a car. Some individuals describe a feeling prior to the abnormal movement. This may be described as a "rush" through the body or a feeling of tightness or numbness. The abnormal movements are usually dystonic in nature, though they can appear choreiform, and can affect limbs on one or both sides of the body. Paroxysmal kinesigenic dyskinesia can be sporadic or familial, inherited in an autosomal dominant fashion, and may co-exist with epilepsy in the syndrome of familial infantile epilepsy (familial infantile epilepsy and paroxysmal kinesigenic dyskinesia syndrome, also known as ICCA syndrome). The movement disorder typically has its onset in mid-childhood or adolescence and may remit in the third decade. Paroxysmal kinesigenic dyskinesia with or without associated epilepsy is associated with mutations in the PRRT2 gene. Attacks may mimic frontal lobe seizures however movement as a trigger is the key differentiating feature in the history. Paroxysmal kinesigenic dyskinesia can respond dramatically to low dose carbamazepine.
from ILAE: true

Axiom
annotated source: paroxysmal kinesigenic dyskinesia
annotated property: hasDefinition
annotated target: Paroxysmal kinesigenic dyskinesia is a hyperkinetic movement disorder characterised by brief (less than 1 minute) attacks of abnormal movements triggered by a sudden normal movement. The triggering movements are typically whole body movements and can include standing up from sitting or getting out of a car. Some individuals describe a feeling prior to the abnormal movement. This may be described as a "rush" through the body or a feeling of tightness or numbness. The abnormal movements are usually dystonic in nature, though they can appear choreiform, and can affect limbs on one or both sides of the body. Paroxysmal kinesigenic dyskinesia can be sporadic or familial, inherited in an autosomal dominant fashion, and may co-exist with epilepsy in the syndrome of familial infantile epilepsy (familial infantile epilepsy and paroxysmal kinesigenic dyskinesia syndrome, also known as ICCA syndrome). The movement disorder typically has its onset in mid-childhood or adolescence and may remit in the third decade. Paroxysmal kinesigenic dyskinesia with or without associated epilepsy is associated with mutations in the PRRT2 gene. Attacks may mimic frontal lobe seizures however movement as a trigger is the key differentiating feature in the history. Paroxysmal kinesigenic dyskinesia can respond dramatically to low dose carbamazepine.

paroxysmal nonkinesigenic dyskinesia
type: Class
subclass of: rare paroxysmal movement disorder
has definition: Paroxysmal nonkinesigenic dyskinesia is a hyperkinetic movement disorder characterised by mixed dystonia, choreoathetosis and dysarthria which last from a few minutes to several hours. The attacks may be triggered by emotional stress, alcohol or coffee. Attacks typically start in infancy or early childhood and can be inherited in an autosomal dominant manner associated with mutations in the myofibrillogenesis (MR-1) gene. The retained awareness and history of triggers should prevent misdiagnosis as focal seizures.
from ILAE: true

Axiom
annotated source: paroxysmal nonkinesigenic dyskinesia
annotated property: hasDefinition
annotated target: Paroxysmal nonkinesigenic dyskinesia is a hyperkinetic movement disorder characterised by mixed dystonia, choreoathetosis and dysarthria which last from a few minutes to several hours. The attacks may be triggered by emotional stress, alcohol or coffee. Attacks typically start in infancy or early childhood and can be inherited in an autosomal dominant manner associated with mutations in the myofibrillogenesis (MR-1) gene. The retained awareness and history of triggers should prevent misdiagnosis as focal seizures.

partial amnesia
type: Class
subclass of: memory impairment
has definition: Amnesia affecting only certain memories.
comment on definition: Modified definition
from ESSO: true

pedaling
type: Class
subclass of: musculoskeletal system symptom
has definition: Pedaling movements of both feet.
from ESSO: true

Axiom
annotated source: pedaling
annotated property: hasDefinition
annotated target: Pedaling movements of both feet.

pelopsia
type: Class
subclass of: Abnormality of vision
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29151098
has definition: A vision perception disorder in which objects appear closer than they actually are.
from pub med: true

Axiom
annotated source: pelopsia
annotated property: hasDefinition
annotated target: A vision perception disorder in which objects appear closer than they actually are.

penicillin model
type: Class
subclass of: convulsant drug model
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/18762233
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/21939841
has definition: Penicillin-induced epilepsy model is an animal model in which penicillin used to induce epilepsy seizure on hippocampal neuron number and hippocampal volume.
alternative_term: penicillin-induced epilepsy model
comment on definition: Modified definition
from pub med: true

pentylenetetrazol model
type: Class
subclass of: convulsant drug model
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/20868357
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/25228809
has definition: Pentylenetetrazole (PTZ), a GABA receptor antagonist, is used to create a common chemically- induced seizure model. Amongst all animal models of seizure and epilepsy, the pentylenetetrazole-induced seizures are categorized as a model of generalized seizure (versus partial or focal seizure). It produces a myoclonic seizure that models absence (petit mal) seizures.
from pub med: true

Axiom
annotated source: pentylenetetrazol model
annotated property: hasDefinition
annotated target: Pentylenetetrazole (PTZ), a GABA receptor antagonist, is used to create a common chemically- induced seizure model. Amongst all animal models of seizure and epilepsy, the pentylenetetrazole-induced seizures are categorized as a model of generalized seizure (versus partial or focal seizure). It produces a myoclonic seizure that models absence (petit mal) seizures.

perinatal insult
type: Class
subclass of: Risk Factor
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29804730
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/8330586
has definition: Perinatal insults are defined as insults which likely occurred between 28 weeks of gestation to 28 days after birth.
comment on definition: Modified definition
from pub med: true

periodic pattern
type: Class
subclass of: special pattern
has definition: Periodic pattern (PP) refers to relative stereotypical waveforms which are frequently epileptiform and have a relatively periodic repetition rate.

Axiom
annotated source: periodic pattern
annotated property: hasDefinition
annotated target: Periodic pattern (PP) refers to relative stereotypical waveforms which are frequently epileptiform and have a relatively periodic repetition rate.

person hallucination
type: Class
subclass of: visual hallucination
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/19333408
has definition: Person hallucination is a form of visual hallucinations ranging from seeing a person in the absence of an external stimulus.
comment on definition: Modified definition
from ESSO: true

pharmacoresistant epilepsy model
type: Class
subclass of: Rodent Model of Disease
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/20618423
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/24251565
has definition: In vitro or in vivo models developed in research of pharmacoresistant epilepsy.
from pub med: true

phenytion-induced seizure
type: Class
subclass of: toxic cause of seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/2924747
has definition: Seizures induced when toxic concentrations of phenytoin an anti-epileptic drug is administered.
comment on definition: Modified definition
from pub med: true

picrotoxin-induced seizure
type: Class
subclass of: toxic cause of seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/11956004
has definition: In-vivo model in which seizures are induced by giving picrotoxin a GABAA receptor/chloride channel antagonist. Picrotoxin model is useful for screening of putative anti-epileptic drugs. Picrotoxin can be administered subcutaneously, intraperitoneally, or intravenously, because it dissolves readily in saline. Seizures occur within 30–40 minutes, showing all behavioral phenomena.
comment on definition: Modified definition
from pub med: true

picrotoxin model
type: Class
subclass of: convulsant drug model
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/11762207
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/11956004
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/1396544
has definition: Animal models in which administration of picrotoxin, the GABAA receptor antagonist into the medial PFC has been shown to reduce prepulse inhibition.
comment on definition: Modified definition
from pub med: true

pilocarpine model
type: Class
subclass of: convulsant drug model
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/18550176
has definition: Animal models in which injection of pilocarpine inducing status epilepticus that is characterized by tonic–clonic generalized seizures.
from pub med: true

polymorphic wave
type: Class
subclass of: Brain Waves
has definition: Distinct EEG activity composed of multiple frequencies that combine to form a complex waveform.
from article: true

Axiom
annotated source: polymorphic wave
annotated property: hasDefinition
annotated target: Distinct EEG activity composed of multiple frequencies that combine to form a complex waveform.

positive occipital sharp transients of sleep
type: Class
subclass of: normal EEG pattern
has definition: Sharp transient maximal over the occipital regions, positive relative to other areas, apparently occurring spontaneously during sleep. May be single or repetitive. Amplitude varies but is generally below 50µV.
from ESSO: true

Axiom
annotated source: positive occipital sharp transients of sleep
annotated property: hasDefinition
annotated target: Sharp transient maximal over the occipital regions, positive relative to other areas, apparently occurring spontaneously during sleep. May be single or repetitive. Amplitude varies but is generally below 50µV.

positive visual hallucination
type: Class
subclass of: visual hallucination
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/12908748
has definition: Positive visual hallucinations overrides attention to external stimuli rather than competing with them. Those instructions that have the effect of reducing perception by creating an illusory obstruction to it reduce brain response to perception in the cognate sensory cortex, as measured by ERP amplitude and regional blood flow.
comment on definition: Modified definition

post-ictal
type: Class
subclass of: physiological state
subclass of: Restriction
  some values from: epilepsy
has exact synonym: postictal
has definition: The postictal state is an abnormal condition that lasts for a period that begins when a seizure subsides and ends when the patient returns to baseline.
from pub med: true

Axiom
annotated source: post-ictal
annotated property: hasDefinition
annotated target: The postictal state is an abnormal condition that lasts for a period that begins when a seizure subsides and ends when the patient returns to baseline.

post stroke seizure
type: Class
subclass of: immediate and early post cerebral insult seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/16954451
has definition: Seizure after stroke.
from pub med: true

Axiom
annotated source: post stroke seizure
annotated property: hasDefinition
annotated target: Seizure after stroke.

posterior cingulate epilepsy
type: Class
subclass of: cingulate epilepsy
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/23926279
has definition: Posterior cingulate epilepsy (PCE) is rare form of epilepsy where the seizure onset is located at an anatomically deep and semiologically silent area.
has definition: http://www.case.edu/EpSO.owl#PosteriorCingulateEpilepsy
comment on definition: Modified definition
from pub med: true

posterior temporal epilepsy
type: Class
subclass of: temporal lobe epilepsy
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/8154869
has definition: Posterior temporal epilepsy seizures are likely to arise from basal rather than lateral convexity neocortex, and to have a reliably stereotyped ictal semiology. In the awake state, posterior temporal seizures begin with sudden behavioral arrest followed by secondary motor convulsive activity, usually in the form of tonic contraversive movement.
alternative_term: Basal Temporal Epilepsy
comment on definition: Modified definition
from pub med: true

posttraumatic epilepsy model
type: Class
subclass of: Rodent Model of Disease
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/25228809
has definition: An animal model of posttraumatic epilepsy that reliably reproduces the clinical sequelae of human traumatic brain injury is essential to identify the molecular and cellular substrates of posttraumatic epileptogenesis, and perform preclinical screening of new antiepileptogenic compounds.
from pub med: true

Axiom
annotated source: posttraumatic epilepsy model
annotated property: hasDefinition
annotated target: An animal model of posttraumatic epilepsy that reliably reproduces the clinical sequelae of human traumatic brain injury is essential to identify the molecular and cellular substrates of posttraumatic epileptogenesis, and perform preclinical screening of new antiepileptogenic compounds.

prefrontal epilepsy
type: Class
subclass of: lateral frontal epilepsy
has definition: Prefrontal epilepsy was considered as one variation of frontal-lobar epilepsy with prefrontal location of the focus.

Axiom
annotated source: prefrontal epilepsy
annotated property: hasDefinition
annotated target: Prefrontal epilepsy was considered as one variation of frontal-lobar epilepsy with prefrontal location of the focus.

premotor epilepsy
type: Class
subclass of: lateral frontal epilepsy
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/23027094
has definition: Seizures originating from the premotor cortex.
comment on definition: Modified definition
from pub med: true

primary sensorimotor cortex seizure
type: Class
subclass of: frontal lobe seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/10908200
has definition: Primary sensorimotor cortex seizures are focal motor seizures characterized by localized clonic, tonic-clonic, tonic or myoclonic activity. They may exhibit features of a Jacksonian march where unilateral tonic-clonic movements start in one muscle group and spread systematically to adjacent groups reflecting the spread of ictal activity through the motor cortex according to the homunculus. There may be focal somatosensory features alone, such as unilateral tingling, or in combination with motor features. Negative motor features such as focal atonic features may also occur.
from ILAE: true
from pub med: true

Axiom
annotated source: primary sensorimotor cortex seizure
annotated property: hasDefinition
annotated target: Primary sensorimotor cortex seizures are focal motor seizures characterized by localized clonic, tonic-clonic, tonic or myoclonic activity. They may exhibit features of a Jacksonian march where unilateral tonic-clonic movements start in one muscle group and spread systematically to adjacent groups reflecting the spread of ictal activity through the motor cortex according to the homunculus. There may be focal somatosensory features alone, such as unilateral tingling, or in combination with motor features. Negative motor features such as focal atonic features may also occur.

primary visual cortex seizure
type: Class
subclass of: occipital lobe seizure
has definition: Seizures in this area result in focal sensory visual seizures, these may be positive visual phenomena (typically multi-colored shapes such as circles, flashes), or negative phenomena such as loss of a part of a visual field or blindness (amaurosis). Bilateral loss of vision may occur and this may be in the form of a black-out or a white-out. More complex formed visual images, considered focal cognitive seizures, are not seen in seizures arising in this area. The visual phenomenon is seen in the contralateral visual field to the hemisphere of seizure onset.
from ILAE: true

Axiom
annotated source: primary visual cortex seizure
annotated property: hasDefinition
annotated target: Seizures in this area result in focal sensory visual seizures, these may be positive visual phenomena (typically multi-colored shapes such as circles, flashes), or negative phenomena such as loss of a part of a visual field or blindness (amaurosis). Bilateral loss of vision may occur and this may be in the form of a black-out or a white-out. More complex formed visual images, considered focal cognitive seizures, are not seen in seizures arising in this area. The visual phenomenon is seen in the contralateral visual field to the hemisphere of seizure onset.

primitive behavior
type: Class
subclass of: behavior
has definition: Primitive behavior includes some behavior that seems to originate from early developmental stages of human instinctive behavior as a reaction pattern in response to danger and stress that also can be observed in animals.
comment on definition: Modified definition
from ESSO: true

pseudostatus epilepticus
type: Class
subclass of: psychogenic non-epileptic seizure
has definition: Pseudostatus epilepticus is common in patients with psychogenic nonepileptic seizures and it is often misdiagnosed as genuine and life-threatening convulsive status epilepticus. These patients commonly have multiple episodes of ‘status’ and receive intensive care unit management. They usually have a history of other unexplained illness and of deliberate self-poisoning. Episodes of anticonvulsant-induced respiratory arrest may occur.
from NCBI book: true

Axiom
annotated source: pseudostatus epilepticus
annotated property: hasDefinition
annotated target: Pseudostatus epilepticus is common in patients with psychogenic nonepileptic seizures and it is often misdiagnosed as genuine and life-threatening convulsive status epilepticus. These patients commonly have multiple episodes of ‘status’ and receive intensive care unit management. They usually have a history of other unexplained illness and of deliberate self-poisoning. Episodes of anticonvulsant-induced respiratory arrest may occur.

quality of life in epilepsy inventory - 31
type: Class
subclass of: Research or Clinical Assessment Tool
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/10924866
has definition: The QOLIE-31 is a 31- item self-administered questionnaire for adults (18 years or older) with epilepsy.
alternative_term: QUOLIE-31
comment on definition: Modified definition
from pub med: true

quality of life in epilepsy inventory - 89
type: Class
subclass of: Research or Clinical Assessment Tool
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/12639061
has definition: QOLIE-89 contains 17 multi-item measures of overall quality of life, emotional well-being, role limitations due to emotional problems, social support, social isolation, energy/fatigue, worry about seizure, medication effects, health discouragement, work/driving/social function, attention/concentration, language, memory, physical function, pain, role limitations due to physical problems, and health perceptions.
from pub med: true

Axiom
annotated source: quality of life in epilepsy inventory - 89
annotated property: hasDefinition
annotated target: QOLIE-89 contains 17 multi-item measures of overall quality of life, emotional well-being, role limitations due to emotional problems, social support, social isolation, energy/fatigue, worry about seizure, medication effects, health discouragement, work/driving/social function, attention/concentration, language, memory, physical function, pain, role limitations due to physical problems, and health perceptions.

rapid eye movement atonia
type: Class
subclass of: sleeping behavior phenotype
has definition: Muscle atonia during REM sleep.
has definition: http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#REM_Atonia
alternative_term: REM atonia

Axiom
annotated source: rapid eye movement atonia
annotated property: hasDefinition
annotated target: Muscle atonia during REM sleep.

reading epilepsy
type: Class
subclass of: reflex epilepsy
has definition: Reading epilepsy is characterized by seizures that start between 12 and 19 years of age. There is a male predominance (1.8M:F). Seizures are elicited by reading (aloud or silently). Prognosis is good as seizures are usually minor and can be avoided through reducing exposure to the stimulus.
has_related_synonym: Primary Reading Epilepsy
from ILAE: true

Axiom
annotated source: reading epilepsy
annotated property: hasDefinition
annotated target: Reading epilepsy is characterized by seizures that start between 12 and 19 years of age. There is a male predominance (1.8M:F). Seizures are elicited by reading (aloud or silently). Prognosis is good as seizures are usually minor and can be avoided through reducing exposure to the stimulus.

responsive neurostimulation
type: Class
subclass of: therapeutic procedure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/30215021
has definition: Responsive neurostimulation (RNS) is a breakthrough surgical approach to treating seizures that are not controlled by medication.
from pub med: true

Axiom
annotated source: responsive neurostimulation
annotated property: hasDefinition
annotated target: Responsive neurostimulation (RNS) is a breakthrough surgical approach to treating seizures that are not controlled by medication.

rhythmic benign variant
type: Class
subclass of: benign EEG pattern
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK390352/
has definition: Rhythmic benign variants consist of rhythmic activity that may be in the theta, alpha, or beta frequency ranges.
from NCBI book: true

Axiom
annotated source: rhythmic benign variant
annotated property: hasDefinition
annotated target: Rhythmic benign variants consist of rhythmic activity that may be in the theta, alpha, or beta frequency ranges.

rhythmic temporal theta of drowsiness
type: Class
subclass of: rhythmic benign variant
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK390352/
has definition: Rhythmic temporal theta bursts of drowsiness (psychomotor variant) is characterized by bursts or serial trains of rhythmic theta waves ranging from 5 to 7 hz with a flat-topped, sharp-contoured, or notched appearance.
alternative_term: Rhytmic Temporal Theta Bursts of Drowsiness
from NCBI book: true

Axiom
annotated source: rhythmic temporal theta of drowsiness
annotated property: hasDefinition
annotated target: Rhythmic temporal theta bursts of drowsiness (psychomotor variant) is characterized by bursts or serial trains of rhythmic theta waves ranging from 5 to 7 hz with a flat-topped, sharp-contoured, or notched appearance.

right frontal encephalomalacia
type: Class
subclass of: brain disease
has definition: Encephalomalacia in the right frontal lobe.

Axiom
annotated source: right frontal encephalomalacia
annotated property: hasDefinition
annotated target: Encephalomalacia in the right frontal lobe.

right fronto parietal abscess
type: Class
subclass of: Brain abscess

right fronto temporal glioma
type: Class
subclass of: brain glioma

right hemispheric stroke
type: Class
subclass of: brain disease
has definition: A right hemispheric stroke happens when blood cannot flow to the right hemisphere (half) of your brain.

Axiom
annotated source: right hemispheric stroke
annotated property: hasDefinition
annotated target: A right hemispheric stroke happens when blood cannot flow to the right hemisphere (half) of your brain.

right mesial lesion
type: Class
subclass of: brain disease
has definition: Lesions in Mesial temporal lobe.
alternative_term: Mesial temporal lobe lesion

Axiom
annotated source: right mesial lesion
annotated property: hasDefinition
annotated target: Lesions in Mesial temporal lobe.

rotational horizontal
type: Class
subclass of: vertigo
has definition: Rotational horizontal vertigo is defined when the nystagmus is purely horizontal and rotational.
comment on definition: Modified definition
from ESSO: true

rotational vertical
type: Class
subclass of: vertigo
has definition: Rotational vertical vertigo is defined when the nystagmus is purely vertical and rotational.
from ESSO: true

rubbing
type: Class
subclass of: behavior
has definition: Prolonged or repetitive cutaneous stimulation in a circumscribed area of the body.
from article: true
from ESSO: true

Axiom
annotated source: rubbing
annotated property: hasDefinition
annotated target: Prolonged or repetitive cutaneous stimulation in a circumscribed area of the body.

rushing noise
type: Class
subclass of: auditory hallucination
from ESSO: true

scenery hallucination
type: Class
subclass of: visual hallucination
has db x ref: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3195159/
from ESSO: true
from pub med: true

screeching
type: Class
subclass of: behavior
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/12427900
has definition: To make an unpleasant, loud, high noise.
from pub med: true

Axiom
annotated source: screeching
annotated property: hasDefinition
annotated target: To make an unpleasant, loud, high noise.

second line immunotherapy
type: Class
subclass of: immunotherapy procedure
from article: true

seizure arising inferior to the calcarine fissure
type: Class
subclass of: occipital lobe seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26063964
has definition: Occipital seizures arising in this area tend to spread to the temporal lobe producing a focal impaired awareness seizure.
has_related_synonym: inferior to the calcarine fissure
from ILAE: true

Axiom
annotated source: seizure arising inferior to the calcarine fissure
annotated property: hasDefinition
annotated target: Occipital seizures arising in this area tend to spread to the temporal lobe producing a focal impaired awareness seizure.

seizure arising superior to the calcarine fissure
type: Class
subclass of: occipital lobe seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26063964
has definition: Occipital seizures arising in this area can spread to the parietal lobe, fronto-parietal operculum or frontal lobes. Focal atonic motor seizures can occur if the seizure spreads rapidly to frontal regions.
from ILAE: true

Axiom
annotated source: seizure arising superior to the calcarine fissure
annotated property: hasDefinition
annotated target: Occipital seizures arising in this area can spread to the parietal lobe, fronto-parietal operculum or frontal lobes. Focal atonic motor seizures can occur if the seizure spreads rapidly to frontal regions.

seizure associated with human immunodeficiency virus infection
type: Class
subclass of: infectious cause of seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/10474720
has definition: Seizures occuring during the course of HIV infection.
alternative_term: Seizure associated with HIV infection
comment on definition: Modified definition
from pub med: true

seizure based on hemispheric lateralization
type: Class
subclass of: Focal-onset seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/23959883
has definition: Specific focal seizure features are useful in lateralizing the seizure onset or network to one hemisphere. Features that suggest lateralization of the seizure are outlined below. These features provide strong evidence for lateralization, but it should be noted that occasionally they can be falsely lateralizing. Unilateral ictal clonic activity or ictal dystonia suggests lateralization of the seizure to the contralateral hemisphere. Early forced head version suggests lateralization to the hemisphere contralateral to the direction of the head version i.e. if the head turns to the right, the seizure onset is in the left hemisphere. Ictal speech lateralizes to the non-dominant hemisphere. Ictal aphasia lateralizes to the dominant hemisphere. Postictal dysphasia lateralizes to the dominant hemisphere. Preserved awareness during ictal automatisms lateralizes to the non-dominant hemisphere. Post-ictal nose-wiping lateralizes to the hemisphere ipsilateral to the hand used for nose-wiping. Unilateral eye-blinking lateralizes to the hemisphere ipsilateral to the eye-blinking. Ictal vomiting lateralizes to the non-dominant hemisphere
from ILAE: true

Axiom
annotated source: seizure based on hemispheric lateralization
annotated property: hasDefinition
annotated target: Specific focal seizure features are useful in lateralizing the seizure onset or network to one hemisphere. Features that suggest lateralization of the seizure are outlined below. These features provide strong evidence for lateralization, but it should be noted that occasionally they can be falsely lateralizing. Unilateral ictal clonic activity or ictal dystonia suggests lateralization of the seizure to the contralateral hemisphere. Early forced head version suggests lateralization to the hemisphere contralateral to the direction of the head version i.e. if the head turns to the right, the seizure onset is in the left hemisphere. Ictal speech lateralizes to the non-dominant hemisphere. Ictal aphasia lateralizes to the dominant hemisphere. Postictal dysphasia lateralizes to the dominant hemisphere. Preserved awareness during ictal automatisms lateralizes to the non-dominant hemisphere. Post-ictal nose-wiping lateralizes to the hemisphere ipsilateral to the hand used for nose-wiping. Unilateral eye-blinking lateralizes to the hemisphere ipsilateral to the eye-blinking. Ictal vomiting lateralizes to the non-dominant hemisphere

seizure based on lobar localization
type: Class
subclass of: Focal-onset seizure
has definition: Localization-related epilepsies are characterized by partial seizures arising from one part of the brain. Seizure semiology correlates with initial activation of only part of one cerebral hemisphere and categorized by cerebral lobe of seizure onset.
from article: true
from ILAE: true

Axiom
annotated source: seizure based on lobar localization
annotated property: hasDefinition
annotated target: Localization-related epilepsies are characterized by partial seizures arising from one part of the brain. Seizure semiology correlates with initial activation of only part of one cerebral hemisphere and categorized by cerebral lobe of seizure onset.

seizure classification
type: Class
subclass of: International League Against Epilepsy classification
subclass of: Restriction
  on property: isSeizureClassificationFor
  some values from: epilepsy
has definition: A seizure is a transient occurrence of symptoms and/or signs due to abnormal excessive or synchronous neuronal activity in the brain. In EpilepsyDiagnosis.Org, the term 'features' will be used to describe both the symptoms and signs that occur during seizures. These features can be used to classify seizures. A seizure does not necessarily mean that a person has epilepsy, unless the criteria for diagnosis of epilepsy are met.
from ILAE: true

Axiom
annotated source: seizure classification
annotated property: hasDefinition
annotated target: A seizure is a transient occurrence of symptoms and/or signs due to abnormal excessive or synchronous neuronal activity in the brain. In EpilepsyDiagnosis.Org, the term 'features' will be used to describe both the symptoms and signs that occur during seizures. These features can be used to classify seizures. A seizure does not necessarily mean that a person has epilepsy, unless the criteria for diagnosis of epilepsy are met.

seizure induced by chlorinated hydrocarbon
type: Class
subclass of: toxic cause of seizure
has definition: Seizures induced by chlorinated hydrocarbon.
from pub med: true

Axiom
annotated source: seizure induced by chlorinated hydrocarbon
annotated property: hasDefinition
annotated target: Seizures induced by chlorinated hydrocarbon.

seizure not necessarily requiring a diagnosis of epilepsy
type: Class
subclass of: seizure
from EPILONT: true

seizure pattern
type: Class
subclass of: ictal pattern
has db x ref: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375749/
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/25012363
has definition: EEG patterns encountered during seizures.
comment on definition: Modified definition
from pub med: true

selective amygdalohippocampectomy
type: Class
subclass of: surgical procedure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/22957229
has definition: Selective amygdalohippocampectomy is a surgical procedure employed in cases of medically refractory temporal lobe epilepsy of mesial temporal origin.
comment on definition: Modified definition
from pub med: true

self-limited familial and non-familial infantile epilepsy
type: Class
subclass of: neonatal/infantile epilepsy syndrome
has definition: Familial (and non-familial) infantile epilepsy, formerly called benign familial (and non-familial) infantile seizures, is a syndrome characterized by the onset of seizures in the infantile period. Seizures are often frequent and intractable at onset but spontaneously resolve. The child is expected to have normal developmental progress. Familial and non-familial forms of infantile epilepsy are identical except for the presence of a family history. Familial cases show autosomal dominant inheritance and have genetic etiologies in common with self-limited familial neonatal and self-limited familial neonatal-infantile epilepsies, thus these epilepsy syndromes are likely related disorders.
from ILAE: true

Axiom
annotated source: self-limited familial and non-familial infantile epilepsy
annotated property: hasDefinition
annotated target: Familial (and non-familial) infantile epilepsy, formerly called benign familial (and non-familial) infantile seizures, is a syndrome characterized by the onset of seizures in the infantile period. Seizures are often frequent and intractable at onset but spontaneously resolve. The child is expected to have normal developmental progress. Familial and non-familial forms of infantile epilepsy are identical except for the presence of a family history. Familial cases show autosomal dominant inheritance and have genetic etiologies in common with self-limited familial neonatal and self-limited familial neonatal-infantile epilepsies, thus these epilepsy syndromes are likely related disorders.

self-limited neonatal seizure and self-limited familial neonatal epilepsy
type: Class
subclass of: neonatal/infantile epilepsy syndrome
has definition: Self-limited neonatal seizures and familial neonatal epilepsy may have similar clinical and electrical features, but can be distinguished on the basis of family history. These entities may have similar genetic etiologies, with de novo mutations responsible for the lack of family history in self-limited neonatal seizures.
from ILAE: true

Axiom
annotated source: self-limited neonatal seizure and self-limited familial neonatal epilepsy
annotated property: hasDefinition
annotated target: Self-limited neonatal seizures and familial neonatal epilepsy may have similar clinical and electrical features, but can be distinguished on the basis of family history. These entities may have similar genetic etiologies, with de novo mutations responsible for the lack of family history in self-limited neonatal seizures.

self gratification
type: Class
subclass of: Behavioral Disorder
has definition: Self-gratification or self-stimulation includes behavior which may be seen from infancy onwards, more so in pre-school girls. Rhythmic hip flexion and adduction may be accompanied by a distant expression, a flushed face and sometimes followed by sleepiness. The distant expression, sometimes associated with straining and head turning, may be confused with a focal impaired awareness seizure. The diagnosis is more difficult when the infant or young child seems unhappy during or after the rhythmic movements. The relative frequency of events and occurrence in specific circumstances, such as when bored or in a car seat or high chair, lends this behavior to home video recording. Self-gratification or self-stimulation rather than terms such as masturbation are preferred by parents and better reflect the mechanism.
alternative_term: Benign idiopathic infantile dyskinesia
alternative_term: Gratification disorder
alternative_term: Self Stimulation
from ILAE: true

Axiom
annotated source: self gratification
annotated property: hasDefinition
annotated target: Self-gratification or self-stimulation includes behavior which may be seen from infancy onwards, more so in pre-school girls. Rhythmic hip flexion and adduction may be accompanied by a distant expression, a flushed face and sometimes followed by sleepiness. The distant expression, sometimes associated with straining and head turning, may be confused with a focal impaired awareness seizure. The diagnosis is more difficult when the infant or young child seems unhappy during or after the rhythmic movements. The relative frequency of events and occurrence in specific circumstances, such as when bored or in a car seat or high chair, lends this behavior to home video recording. Self-gratification or self-stimulation rather than terms such as masturbation are preferred by parents and better reflect the mechanism.

self limited seizure
type: Class
subclass of: seizure
from EPILONT: true

sexual seizure
type: Class
subclass of: seizure
has definition: Phenomenon of orgasm being a trigger for reflex seizures.
from article: true
from pub med: true

Axiom
annotated source: sexual seizure
annotated property: hasDefinition
annotated target: Phenomenon of orgasm being a trigger for reflex seizures.

sharp and slow wave complex
type: Class
subclass of: Interictal EEG abnormality
has definition: A sequence of a sharp wave and a slow wave.
from ESSO: true

Axiom
annotated source: sharp and slow wave complex
annotated property: hasDefinition
annotated target: A sequence of a sharp wave and a slow wave.

sharp wave
type: Class
subclass of: transient
has definition: A transient, clearly distinguished from background activity, with pointed peak at a conventional paper speed or time scale and duration of 70-200 ms, i.e. over 1/4-1/5 s approximately.
from ESSO: true

Axiom
annotated source: sharp wave
annotated property: hasDefinition
annotated target: A transient, clearly distinguished from background activity, with pointed peak at a conventional paper speed or time scale and duration of 70-200 ms, i.e. over 1/4-1/5 s approximately.

sialorrheic seizure
type: Class
subclass of: seizure

simple focal seizure
type: Class
subclass of: epilepsy
has definition: The person may have different symptoms depending on which area of the brain is involved. If the abnormal electrical brain function is in the occipital lobe (the back part of the brain that is involved with vision), sight may be altered, but muscles are more commonly affected. The seizure activity is limited to an isolated muscle group, such as the fingers, or to larger muscles in the arms and legs. Consciousness is not lost in this type of seizure. The person may also experience sweating, nausea, or become pale.
alternative_term: Single Focal Epilepsy
from article: true

Axiom
annotated source: simple focal seizure
annotated property: hasDefinition
annotated target: The person may have different symptoms depending on which area of the brain is involved. If the abnormal electrical brain function is in the occipital lobe (the back part of the brain that is involved with vision), sight may be altered, but muscles are more commonly affected. The seizure activity is limited to an isolated muscle group, such as the fingers, or to larger muscles in the arms and legs. Consciousness is not lost in this type of seizure. The person may also experience sweating, nausea, or become pale.

simple visual hallucination
type: Class
subclass of: visual hallucination
has db x ref: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2660156/
has definition: Brief, stereotyped unformed flashes of light and color or indistinct forms may reflect stimulation or irritation of primary visual areas, for example by tumor, migraine, or focal epileptogenic lesions.
from pub med: true

Axiom
annotated source: simple visual hallucination
annotated property: hasDefinition
annotated target: Brief, stereotyped unformed flashes of light and color or indistinct forms may reflect stimulation or irritation of primary visual areas, for example by tumor, migraine, or focal epileptogenic lesions.

simple visual pattern
type: Class
subclass of: positive visual hallucination
from article: true
from ESSO: true

single seizure or isolated clusters of seizure
type: Class
subclass of: seizure
from EPILONT: true

sinusoidal wave
type: Class
subclass of: Brain Waves
has definition: Waves resembling sine waves.
from ESSO: true

Axiom
annotated source: sinusoidal wave
annotated property: hasDefinition
annotated target: Waves resembling sine waves.

situational cicardian rhythm sleep disorder
type: Class
subclass of: sleep disorder

sleep deprived electroencephalography
type: Class
subclass of: electroencephalography
has definition: A sleep-deprived EEG, or an electroencephalogram, is a type of EEG that requires the patient to acquire less sleep than usual before undergoing the test.
alternative_term: sleep deprived EEG
from article: true

Axiom
annotated source: sleep deprived electroencephalography
annotated property: hasDefinition
annotated target: A sleep-deprived EEG, or an electroencephalogram, is a type of EEG that requires the patient to acquire less sleep than usual before undergoing the test.

sleep electroencephalography
type: Class
subclass of: electroencephalography
has definition: A sleep EEG is a type of EEG carried out while someone is asleep.
alternative_term: sleep EEG
comment on definition: Modified definition

sleep onset rapid eye movement
type: Class
subclass of: special pattern
has definition: Sleep-onset rapid eye movement (SOR) refers to the occurence of REM sleep less than 15 minutes after falling sleep.

Axiom
annotated source: sleep onset rapid eye movement
annotated property: hasDefinition
annotated target: Sleep-onset rapid eye movement (SOR) refers to the occurence of REM sleep less than 15 minutes after falling sleep.

sleep spindle
type: Class
subclass of: normal EEG pattern
has definition: Burst at 11-15 Hz but mostly at 12-14 Hz generally diffuse but of higher voltage over the central regions of the head, occurring during sleep. Amplitude varies but is mostly below 50 pV in the adult.
from ESSO: true

Axiom
annotated source: sleep spindle
annotated property: hasDefinition
annotated target: Burst at 11-15 Hz but mostly at 12-14 Hz generally diffuse but of higher voltage over the central regions of the head, occurring during sleep. Amplitude varies but is mostly below 50 pV in the adult.

small sharp spike
type: Class
subclass of: epileptiform benign variant
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK390352/
has definition: Small sharp spikes (SSS) consist of single monophasic or diphasic spikes with an abrupt ascending limb and a steep descending limb, are generally of low voltage and short duratiopn, usually less than 50 ms.
alternative_term: Benign Epileptiform Transients of Sleep
alternative_term: SSS
from NCBI book: true

Axiom
annotated source: small sharp spike
annotated property: hasDefinition
annotated target: Small sharp spikes (SSS) consist of single monophasic or diphasic spikes with an abrupt ascending limb and a steep descending limb, are generally of low voltage and short duratiopn, usually less than 50 ms.

somatoform dissociation questionnaire
type: Class
subclass of: Research or Clinical Assessment Tool
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/24861272
has definition: The 20-item Somatoform Dissociation Questionnaire evaluates the severity of somatoform dissociation. The SDQ-20 items were derived from a pool of 75 items describing clinically observed somatoform dissociative symptoms that in clinical settings had appeared upon activation of particular dissociative parts of the personality and that could not be medically explained. The items pertain to both negative (e.g., analgesia) and positive dissociative phenomena (e.g., site-specific pain).
alternative_term: SDQ-20
from pub med: true

Axiom
annotated source: somatoform dissociation questionnaire
annotated property: hasDefinition
annotated target: The 20-item Somatoform Dissociation Questionnaire evaluates the severity of somatoform dissociation. The SDQ-20 items were derived from a pool of 75 items describing clinically observed somatoform dissociative symptoms that in clinical settings had appeared upon activation of particular dissociative parts of the personality and that could not be medically explained. The items pertain to both negative (e.g., analgesia) and positive dissociative phenomena (e.g., site-specific pain).

spark
type: Class
subclass of: positive visual hallucination
from article: true
from ESSO: true

special pattern
type: Class
subclass of: EEG abnormality
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26365965
has definition: EEG patterns other than normal ones.
comment on definition: Modified definition

special seizure
type: Class
subclass of: seizure

speech arrest
type: Class
subclass of: head symptom
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK2605/
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/6537832
from ESSO: true
from NCBI book: true
from pub med: true

speech interrupted
type: Class
subclass of: head symptom
from article: true
from ESSO: true

spike and slow wave complex
type: Class
subclass of: Interictal EEG abnormality
has definition: A pattern consisting of a spike followed by a slow wave.
from ESSO: true

Axiom
annotated source: spike and slow wave complex
annotated property: hasDefinition
annotated target: A pattern consisting of a spike followed by a slow wave.

spindle stupor
type: Class
subclass of: special pattern
has definition: Spindle stupor (SS) refers to an EEG recording of coma where the record is like that of a typical stage-II sleep pattern.

Axiom
annotated source: spindle stupor
annotated property: hasDefinition
annotated target: Spindle stupor (SS) refers to an EEG recording of coma where the record is like that of a typical stage-II sleep pattern.

status pattern
type: Class
subclass of: ictal pattern

status semiology
type: Class
subclass of: ictal pattern
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/32144451
from pub med: true

stereotactic radiotherapy
type: Class
subclass of: non-invasive preoperative evaluation
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29755904
has definition: A specialized type of external beam radiation therapy called stereotactic radiation uses focused radiation beams targeting a well-defined tumor. It relies on detailed imaging, computerized three-dimensional treatment planning and precise treatment set-up to deliver the radiation dose with extreme accuracy.
alternative_term: Stereotactic Radiation Therapy
from pub med: true

Axiom
annotated source: stereotactic radiotherapy
annotated property: hasDefinition
annotated target: A specialized type of external beam radiation therapy called stereotactic radiation uses focused radiation beams targeting a well-defined tumor. It relies on detailed imaging, computerized three-dimensional treatment planning and precise treatment set-up to deliver the radiation dose with extreme accuracy.

structural equation model
type: Class
subclass of: non-deterministic model
has definition: A class of multivariate regression models that are used for causal interpretation of qualitative observational data, for instance, to evaluate the relationship between physical and psychosocial factors and the quality of life among adults with epilepsy.
from pub med: true

Axiom
annotated source: structural equation model
annotated property: hasDefinition
annotated target: A class of multivariate regression models that are used for causal interpretation of qualitative observational data, for instance, to evaluate the relationship between physical and psychosocial factors and the quality of life among adults with epilepsy.

structural etiology
type: Class
subclass of: Etiology
has definition: Structural epilepsies are conceptualized as having a distinct structural brain abnormality that has been demonstrated to be associated with a substantially increased risk of epilepsy in appropriately designed studies. The structural brain abnormality can be acquired (such as due to stroke, trauma or infection) or may be of genetic origin; however, as we currently understand it, the structural brain abnormality is a separate disorder interposed between the acquired or genetic defect and the epilepsy.
alternative_term: Structural Cause
from ILAE: true

Axiom
annotated source: structural etiology
annotated property: hasDefinition
annotated target: Structural epilepsies are conceptualized as having a distinct structural brain abnormality that has been demonstrated to be associated with a substantially increased risk of epilepsy in appropriately designed studies. The structural brain abnormality can be acquired (such as due to stroke, trauma or infection) or may be of genetic origin; however, as we currently understand it, the structural brain abnormality is a separate disorder interposed between the acquired or genetic defect and the epilepsy.

strychnine model
type: Class
subclass of: convulsant drug model
has db x ref: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4164293/
has definition: A seizure model in which administration of strychine induces generalized tonic-clonic seizures.
comment on definition: Modified definition

sucking
type: Class
subclass of: automatism
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK2511/
has definition: To pull in liquid or air through your mouth without using your teeth, or to move the tongue and muscles of the mouth around something inside your mouth, often in order to dissolve it.
alternative_term: Suck
from ESSO: true
from pub med: true

Axiom
annotated source: sucking
annotated property: hasDefinition
annotated target: To pull in liquid or air through your mouth without using your teeth, or to move the tongue and muscles of the mouth around something inside your mouth, often in order to dissolve it.

supplementary motor area seizure
type: Class
subclass of: frontal lobe seizure
has definition: Focal seizures arising from the supplementary motor area (SMA), a region anterior to the motor cortex in the midline, is a type of frontal lobe epilepsy that typically involves unilateral or asymmetrical bilateral tonic posturing and may be associated with facial grimacing, vocalization, or speech arrest.
comment on definition: Modified definition
from article: true

symptomatic epilepsy
type: Class
subclass of: epilepsy
has definition: Symptomatic generalized epilepsy (SGE) encompasses a group of challenging epilepsy syndromes. As a group, SGE has 3 main features: (1) multiple seizure types, especially generalized tonic and atonic seizures; (2) brain dysfunction other than the seizures, in the intellectual domain (mental retardation or developmental delay) and in the motor domain (cerebral palsy); and (3) EEG evidence of diffuse brain abnormality.
has_related_synonym: symptomatic focal epilepsy
from article: true

Axiom
annotated source: symptomatic epilepsy
annotated property: hasDefinition
annotated target: Symptomatic generalized epilepsy (SGE) encompasses a group of challenging epilepsy syndromes. As a group, SGE has 3 main features: (1) multiple seizure types, especially generalized tonic and atonic seizures; (2) brain dysfunction other than the seizures, in the intellectual domain (mental retardation or developmental delay) and in the motor domain (cerebral palsy); and (3) EEG evidence of diffuse brain abnormality.

sz mutant hamster
type: Class
subclass of: paroxysmal dystonia model
has definition: Attacks of sustained dystonic postures of limbs and trunk can be initiated by mild environmental stimuli in an inbred line of Syrian hamsters. The trait is determined by an autosomal simple recessive genetic mutation, originally designated by the gene symbol sz, because the abnormal movements were thought to represent epileptic seizures.
from pub med: true

Axiom
annotated source: sz mutant hamster
annotated property: hasDefinition
annotated target: Attacks of sustained dystonic postures of limbs and trunk can be initiated by mild environmental stimuli in an inbred line of Syrian hamsters. The trait is determined by an autosomal simple recessive genetic mutation, originally designated by the gene symbol sz, because the abnormal movements were thought to represent epileptic seizures.

tantrum and rage reaction
type: Class
subclass of: Behavioral Disorder
has definition: Tantrums and rage reactions are almost never part of an epileptic seizure. Tantrums are common in young children and are usually easy to distinguish from an epileptic seizure. Rage reactions, episodic dyscontrol or intermittent explosive disorder describe situations in which there are recurrent episodes of rage which seem to be out of proportion to relatively minor stimuli. Sustained outbursts of aggression may occur for many minutes, sometimes for up to half an hour or longer. There may screaming, swearing, aggression, damage to property and physical violence. Through the event it may seem that the individual is not normally responsive. Individuals often report no memory for an event afterwards, and may express remorse for their actions. Rage reactions are usually much longer and are only very broadly stereotyped when compared to focal seizures. A rage reaction, when closely analysed is likely to include a series of complex directed motor tasks, which would be exceptionally rare for an epileptic seizure. Aggressive or violent behaviors in an epileptic seizure are very rare, and if seen are typically confused and non-directed actions.
has_related_synonym: Tantrums
has_related_synonym: rage
from ILAE: true

Axiom
annotated source: tantrum and rage reaction
annotated property: hasDefinition
annotated target: Tantrums and rage reactions are almost never part of an epileptic seizure. Tantrums are common in young children and are usually easy to distinguish from an epileptic seizure. Rage reactions, episodic dyscontrol or intermittent explosive disorder describe situations in which there are recurrent episodes of rage which seem to be out of proportion to relatively minor stimuli. Sustained outbursts of aggression may occur for many minutes, sometimes for up to half an hour or longer. There may screaming, swearing, aggression, damage to property and physical violence. Through the event it may seem that the individual is not normally responsive. Individuals often report no memory for an event afterwards, and may express remorse for their actions. Rage reactions are usually much longer and are only very broadly stereotyped when compared to focal seizures. A rage reaction, when closely analysed is likely to include a series of complex directed motor tasks, which would be exceptionally rare for an epileptic seizure. Aggressive or violent behaviors in an epileptic seizure are very rare, and if seen are typically confused and non-directed actions.

tapping
type: Class
subclass of: musculoskeletal system symptom
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29763181
has definition: To hit something gently, and often repeatedly, especially making short, sharp noises.
alternative_term: Tap
from ESSO: true
from pub med: true

Axiom
annotated source: tapping
annotated property: hasDefinition
annotated target: To hit something gently, and often repeatedly, especially making short, sharp noises.

temporal intermittent rythmic delta activity
type: Class
subclass of: EEG with generalized slow activity
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/2804800
has definition: Occurrs more characteristically as trains of 50-100 µV sinusoidal or saw-toothed 1-4Hz activity, recorded predominantly from anterior temporal regions.
has definition: Temporal intermittent rhythmic delta activity (TIRDA) is an EEG pattern characterized by intermittent rhythmic sinusoidal bursts and trains of delta activity localized over the temporal regions
alternative_term: TIRDA
comment on definition: Modified definition

Axiom
annotated source: temporal intermittent rythmic delta activity
annotated property: hasDefinition
annotated target: Temporal intermittent rhythmic delta activity (TIRDA) is an EEG pattern characterized by intermittent rhythmic sinusoidal bursts and trains of delta activity localized over the temporal regions

temporal lobe seizure
type: Class
subclass of: seizure based on lobar localization
has definition: Temporal lobe seizures are characterized by behavioral arrest and impaired awareness. Automatisms are common during the seizure, and include oral and/or manual automatisms. There may sensory (auditory), emotional (fear), cognitive (deja vu) or autonomic features (epigastric sensation, tachycardia, colour change) prior to onset of impaired awareness. Postictal confusion typically occurs.
from ILAE: true

Axiom
annotated source: temporal lobe seizure
annotated property: hasDefinition
annotated target: Temporal lobe seizures are characterized by behavioral arrest and impaired awareness. Automatisms are common during the seizure, and include oral and/or manual automatisms. There may sensory (auditory), emotional (fear), cognitive (deja vu) or autonomic features (epigastric sensation, tachycardia, colour change) prior to onset of impaired awareness. Postictal confusion typically occurs.

temporo-parieto-occipital junction
type: Class
subclass of: brain junction
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/21704564
has definition: Temporo-parieto-occipital (TPO) junction is a complex brain territory heavily involved in several high-level neurological functions, such as language, visuo-spatial recognition, writing, reading, symbol processing, calculation, self-processing, working memory, musical memory, and face and object recognition.
from pub med: true

Axiom
annotated source: temporo-parieto-occipital junction
annotated property: hasDefinition
annotated target: Temporo-parieto-occipital (TPO) junction is a complex brain territory heavily involved in several high-level neurological functions, such as language, visuo-spatial recognition, writing, reading, symbol processing, calculation, self-processing, working memory, musical memory, and face and object recognition.

temporo occipital epilepsy
type: Class
subclass of: epilepsy
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/12615636
has definition: Epilepsy characterized by seizures arising from temporo-occipital cortex. Visual hallucinations are the hallmark of occipital seizures, the visual hallucinations become complex and colourful, and scenes of varying complexity may be ‘seen’
comment on definition: Modified definition

temporo parietal epilepsy
type: Class
subclass of: epilepsy
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/15632275
has definition: Epilepsy characterized by seizures arising from temporo-parietal junction
comment on definition: Modified definition

tetanus toxin model
type: Class
subclass of: convulsant drug model
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/21939841
has definition: The model involves the stereotactic injection of a minute dose of the toxin (secreted by the bacterium Clostridium tetani) into the brain.
from pub med: true

theta activity
type: Class
subclass of: normal EEG pattern
has definition: Theta activity refers to activity with a frequency range of 4 to 8 Hz.

Axiom
annotated source: theta activity
annotated property: hasDefinition
annotated target: Theta activity refers to activity with a frequency range of 4 to 8 Hz.

theta coma
type: Class
subclass of: special pattern
has definition: Theta stuport (TS) / Theta Coma (TC) refers to predominance of theta waves in a comatose/stuporous patient.
alternative_term: theta stupor

Axiom
annotated source: theta coma
annotated property: hasDefinition
annotated target: Theta stuport (TS) / Theta Coma (TC) refers to predominance of theta waves in a comatose/stuporous patient.

tottering mouse
type: Class
subclass of: absence seizure model
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26002462
has definition: The tottering mouse is the best characterized of the Cacna1a mutation, encodes a P601L missense mutation.
alternative_term: Tottering mice
comment on definition: modified definition
from pub med: true

toxic cause of seizure
type: Class
subclass of: Risk Factor
has definition: Toxins cause seizures by altering the balance of excitation and inhibition in the nervous system or interfering with energy metabolism.
from article: true

Axiom
annotated source: toxic cause of seizure
annotated property: hasDefinition
annotated target: Toxins cause seizures by altering the balance of excitation and inhibition in the nervous system or interfering with energy metabolism.

transient
type: Class
subclass of: Brain Waves
has definition: An isolated wave or pattern that is distinctly different from background activity.
from ESSO: true

Axiom
annotated source: transient
annotated property: hasDefinition
annotated target: An isolated wave or pattern that is distinctly different from background activity.

trigeminal nerve stimulation
type: Class
subclass of: therapeutic procedure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26307329
has definition: The Trigeminal Nerve Stimulation (TNS) system is a type of treatment modality which is not yet FDA approved but is available in Europe and other countries. Its mechanism of action is similar to the VNS system and it also appears to have anti-depression effects in addition to anti-epileptic benefits.
comment on definition: modified definition
from pub med: true

trigger factor for seizure
type: Class
subclass of: Risk Factor
has definition: Triggers are situations that can bring on a seizure in some people with epilepsy. Triggers can differ from person to person, but common triggers include tiredness and lack of sleep, stress, alcohol, and not taking medication.
alternative_term: Trigger factor for seizure
from article: true

Axiom
annotated source: trigger factor for seizure
annotated property: hasDefinition
annotated target: Triggers are situations that can bring on a seizure in some people with epilepsy. Triggers can differ from person to person, but common triggers include tiredness and lack of sleep, stress, alcohol, and not taking medication.

triphasic wave
type: Class
subclass of: special pattern
has definition: Triphasic waves (TW) refer to high amplitude (>70 µV) positive sharp transients which are preceded and followed by relatively low-amplitude negative waves.
from ESSO: true

Axiom
annotated source: triphasic wave
annotated property: hasDefinition
annotated target: Triphasic waves (TW) refer to high amplitude (>70 µV) positive sharp transients which are preceded and followed by relatively low-amplitude negative waves.

twisting
type: Class
subclass of: Versive seizures
from ESSO: true

unclassified seizure onset
type: Class
subclass of: unknown onset seizure
has definition: A seizure may be unclassified due to inadequate information to allow it to be placed in the focal, generalized or unknown onset categories. This may occur if it was not witnessed at onset, and if results of investigations (such as EEG and imaging) are not yet available.
from ILAE: true

Axiom
annotated source: unclassified seizure onset
annotated property: hasDefinition
annotated target: A seizure may be unclassified due to inadequate information to allow it to be placed in the focal, generalized or unknown onset categories. This may occur if it was not witnessed at onset, and if results of investigations (such as EEG and imaging) are not yet available.

unknown epilepsy
type: Class
subclass of: epilepsy classification
subclass of: Restriction
  some values from: epilepsy
has definition: The term 'unknown' is used to denote where it is understood that the patient has epilepsy, but it is not possible to denote whether it is focal, generalized, or combined focal and generalized. This may occur due to insufficient information to classify the epilepsy, for example if the EEG is normal/uninformative.
from ILAE: true

Axiom
annotated source: unknown epilepsy
annotated property: hasDefinition
annotated target: The term 'unknown' is used to denote where it is understood that the patient has epilepsy, but it is not possible to denote whether it is focal, generalized, or combined focal and generalized. This may occur due to insufficient information to classify the epilepsy, for example if the EEG is normal/uninformative.

unknown etiology
type: Class
subclass of: Etiology
has definition: 'Unknown' is meant to be viewed neutrally and to designate that the nature of the underlying cause of the epilepsy is as yet unknown; it may have a fundamental genetic defect at its core or there may be a separate as yet unrecognized disorder.
from ILAE: true

Axiom
annotated source: unknown etiology
annotated property: hasDefinition
annotated target: 'Unknown' is meant to be viewed neutrally and to designate that the nature of the underlying cause of the epilepsy is as yet unknown; it may have a fundamental genetic defect at its core or there may be a separate as yet unrecognized disorder.

unknown onset seizure
type: Class
subclass of: seizure classification
has definition: For everyday purposes seizures are broadly categorized as either generalized or focal in onset, these terms can be used where appropriate, but there are seizures that cannot be categorized in this manner and are classified as having unknown onset. Seizures with unknown onset can be further classified as motor (for example epileptic spasm, tonic-clonic), or non-motor (for example, behavior arrest) in type.
from ILAE: true

Axiom
annotated source: unknown onset seizure
annotated property: hasDefinition
annotated target: For everyday purposes seizures are broadly categorized as either generalized or focal in onset, these terms can be used where appropriate, but there are seizures that cannot be categorized in this manner and are classified as having unknown onset. Seizures with unknown onset can be further classified as motor (for example epileptic spasm, tonic-clonic), or non-motor (for example, behavior arrest) in type.

unworthiness
type: Class
subclass of: emotion process
has definition: Not worthy; lacking worth or excellence.
from article: true
from ESSO: true

Axiom
annotated source: unworthiness
annotated property: hasDefinition
annotated target: Not worthy; lacking worth or excellence.

uremic encephalopathy
type: Class
subclass of: kidney disease
has definition: Uremic encephalopathy is a metabolic disorder that occurs in patients with acute or chronic renal failure. This toxic-metabolic encephalopathy is a complication resulting from endogenous uremic toxins in patients with severe renal failure. The pathogenesis is complex and unclear.
from article: true
from pub med: true

Axiom
annotated source: uremic encephalopathy
annotated property: hasDefinition
annotated target: Uremic encephalopathy is a metabolic disorder that occurs in patients with acute or chronic renal failure. This toxic-metabolic encephalopathy is a complication resulting from endogenous uremic toxins in patients with severe renal failure. The pathogenesis is complex and unclear.

urine organic acid test
type: Class
subclass of: urine analysis
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26167207
has definition: Urine organic acid analysis detects a wide range of compounds. It is an excellent diagnostic test for the organic acidemias involving propionic, methylmalonic, and isovaleric acids. It also detects glutaric acid, which is a progressive neurotoxic defect in biomolecule conversion.
from pub med: true

Axiom
annotated source: urine organic acid test
annotated property: hasDefinition
annotated target: Urine organic acid analysis detects a wide range of compounds. It is an excellent diagnostic test for the organic acidemias involving propionic, methylmalonic, and isovaleric acids. It also detects glutaric acid, which is a progressive neurotoxic defect in biomolecule conversion.

vasomotor seizure
type: Class
subclass of: seizure
has definition: The predominant symptoms of the patients in this group were dizziness, sweating, nausea, and weakness which came on suddenly and usually without any obvious cause. These might be described as periodic episodes of vasomotor hyperactivity, and it was often accompanied by subjective anxiety

Axiom
annotated source: vasomotor seizure
annotated property: hasDefinition
annotated target: The predominant symptoms of the patients in this group were dizziness, sweating, nausea, and weakness which came on suddenly and usually without any obvious cause. These might be described as periodic episodes of vasomotor hyperactivity, and it was often accompanied by subjective anxiety

vertical occular oscillation
type: Class
subclass of: occular oscillation
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/
from ESSO: true
from pub med: true

vertigo aura
type: Class
subclass of: seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5308014/
has definition: An aura is usually considered to be the initial clinical sign of a seizure.Vertigo auras may be associated with the areas near the temporal lobe or parietal lobe.
comment on definition: modified definition
from pub med: true

video telemetry
type: Class
subclass of: electroencephalography
has definition: Video telemetry, also called video EEG, is a special type of EEG, where the patient is filmed while an EEG recording is taken. This can help provide more information about the brain activity.
from article: true

Axiom
annotated source: video telemetry
annotated property: hasDefinition
annotated target: Video telemetry, also called video EEG, is a special type of EEG, where the patient is filmed while an EEG recording is taken. This can help provide more information about the brain activity.

voltage-gated potassium channel antibody
type: Class
subclass of: antibody mediated epilepsy
has definition: Antibodies directed against the voltage gated potassium channels bind to other proteins including LGI1 (leucine-rich, glioma-inactivated 1 protein) and CASPR2 (contactin-associated protein 2) resulting in a complex antibody. These antibodies cause limbic encephalitis with the following common features: Short term memory loss Intractable focal seizures with a high frequency, these commonly have temporal lobe features; however focal sensory olfactory seizures or focal autonomic seizures with piloerection (with shivering phenomena) are distinctive seizure types in this etiology Focal motor seizures with dystonia in face and arm (brief episodes of unilateral facial grimace and arm posturing) - these are characteristic of antibody to LGI1 Hyponatremia Dysautonomia Sleep disturbance Psychiatric symptoms
from ILAE: true

Axiom
annotated source: voltage-gated potassium channel antibody
annotated property: hasDefinition
annotated target: Antibodies directed against the voltage gated potassium channels bind to other proteins including LGI1 (leucine-rich, glioma-inactivated 1 protein) and CASPR2 (contactin-associated protein 2) resulting in a complex antibody. These antibodies cause limbic encephalitis with the following common features: Short term memory loss Intractable focal seizures with a high frequency, these commonly have temporal lobe features; however focal sensory olfactory seizures or focal autonomic seizures with piloerection (with shivering phenomena) are distinctive seizure types in this etiology Focal motor seizures with dystonia in face and arm (brief episodes of unilateral facial grimace and arm posturing) - these are characteristic of antibody to LGI1 Hyponatremia Dysautonomia Sleep disturbance Psychiatric symptoms

wicket wave
type: Class
subclass of: epileptiform benign variant
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK390352/
has definition: Wicket spikes consist of intermittent trains or clusters of monophasic arciform waveform or single spike-like waveform that look like a Greek mu or wicket.
alternative_term: wicket spike
from NCBI book: true

Axiom
annotated source: wicket wave
annotated property: hasDefinition
annotated target: Wicket spikes consist of intermittent trains or clusters of monophasic arciform waveform or single spike-like waveform that look like a Greek mu or wicket.

worthiness
type: Class
subclass of: emotion process
has definition: Worthiness is a quality of being suitable or having some kind of value.
from article: true
from ESSO: true

Axiom
annotated source: worthiness
annotated property: hasDefinition
annotated target: Worthiness is a quality of being suitable or having some kind of value.

zinc model
type: Class
subclass of: convulsant drug model
has definition: Elevated concentrations of zinc (Zn2+) (>100 mM) may contribute to neuronal cell death during, seizures, Seizures produced by the intracerebral injection of zinc sulphate (ZnSO4) have proven that it is a convulsant capable of inducing an experimental model of chronic epilepsy; when 600 pg/kg of ZnSO4 are applied via intracerebral injection to experimental animals, typical clonic seizures are observed
from pub med: true

Axiom
annotated source: zinc model
annotated property: hasDefinition
annotated target: Elevated concentrations of zinc (Zn2+) (>100 mM) may contribute to neuronal cell death during, seizures, Seizures produced by the intracerebral injection of zinc sulphate (ZnSO4) have proven that it is a convulsant capable of inducing an experimental model of chronic epilepsy; when 600 pg/kg of ZnSO4 are applied via intracerebral injection to experimental animals, typical clonic seizures are observed

1.5 Tesla magnetic resonance imaging
type: Class
subclass of: magnetic resonance imaging
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/23002376
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/28324301
has definition: MRI scanners built around 1.5 Tesla (T) magnet.
alternative_term: 1.5 Tesla (1.5 T) MRI
alternative_term: Magnetic Resonance Imaging (1.5 Tesla)
comment on definition: Modified definition
from article: true
from pub med: true

14Hz and 6Hz positive spike
type: Class
subclass of: epileptiform benign variant
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK390352/
has definition: Consist of short trains of arch-shaped waveforms with alternating postive spiky components and a negative, smooth, rounded waveforms that occur at a rate of 14 Hz or 6-7 Hz and last from 0.5 to 1 second.
alternative_term: Fourteen-SixHertzPositiveBurst
from NCBI book: true

Axiom
annotated source: 14Hz and 6Hz positive spike
annotated property: hasDefinition
annotated target: Consist of short trains of arch-shaped waveforms with alternating postive spiky components and a negative, smooth, rounded waveforms that occur at a rate of 14 Hz or 6-7 Hz and last from 0.5 to 1 second.

3-nitropropionic acid-induced seizure
type: Class
subclass of: toxic cause of seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/15572277
has definition: 3-nitropropionic acid evoked seizures.
from pub med: true

4-aminopyridine-induced seizure
type: Class
subclass of: toxic cause of seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/20955719
has definition: Epilepsy in-vitro model induced by 4-aminopyridine.
comment on definition: Modified definition
from pub med: true

4-aminopyridine slice model
type: Class
subclass of: In Vitro Model
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/24013377
has definition: In vivo and in vitro models to evoke epileptiform activity by applying or injecting 4-Aminopyridine in low concentrations.
comment on definition: Modified definition
from pub med: true

6Hz phantom spike and wave
type: Class
subclass of: epileptiform benign variant
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK390352/
has definition: Six-hertz spike-and-wave bursts (phantom spike and wave) are brief bursts, lasting 1 to 2 seconds with a repitition rate of 6Hz with a range of 5-7 hz.
alternative_term: Phantom spike and wave
from NCBI book: true

Axiom
annotated source: 6Hz phantom spike and wave
annotated property: hasDefinition
annotated target: Six-hertz spike-and-wave bursts (phantom spike and wave) are brief bursts, lasting 1 to 2 seconds with a repitition rate of 6Hz with a range of 5-7 hz.

6 Hertz psychomotor
type: Class
subclass of: Kindling model
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/20951004
has definition: The 6 Hz Seizure Model is categorized as a partial or focal form of seizure (Psychomotor Seizure).
from pub med: true

Axiom
annotated source: 6 Hertz psychomotor
annotated property: hasDefinition
annotated target: The 6 Hz Seizure Model is categorized as a partial or focal form of seizure (Psychomotor Seizure).

age and sex questionnaire
type: Class
subclass of: Research or Clinical Assessment Tool
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/24861272
has definition: The Ages & Stages Questionnaires®, Third Edition (ASQ®-3) pinpoints developmental progress in children between the ages of one month to 5 ½ years. Its success lies in its parent-centric approach and inherent ease-of-use—a combination that has made it the most widely used developmental screener across the globe.
alternative_term: ASQ

Axiom
annotated source: age and sex questionnaire
annotated property: hasDefinition
annotated target: The Ages & Stages Questionnaires®, Third Edition (ASQ®-3) pinpoints developmental progress in children between the ages of one month to 5 ½ years. Its success lies in its parent-centric approach and inherent ease-of-use—a combination that has made it the most widely used developmental screener across the globe.

C57BL/10Bg sps/sps mouse
type: Class
subclass of: absence seizure model
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/2395534
has definition: C57BL/10Bg mice display behavioral arrest characterized by periods of marked inactivity, similar to generalized absence seizures.
has_related_synonym: C57BL/10Bg mice
from pub med: true

Axiom
annotated source: C57BL/10Bg sps/sps mouse
annotated property: hasDefinition
annotated target: C57BL/10Bg mice display behavioral arrest characterized by periods of marked inactivity, similar to generalized absence seizures.

World Health Organization quality of life instrument, short form
type: Class
subclass of: Research or Clinical Assessment Tool
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/31961886
has definition: The WHOQOL-BREF is a 26-item instrument consisting of four domains: physical health (7 items), psychological health (6 items), social relationships (3 items), and environmental health (8 items); it also contains QOL and general health items. Each individual item of the WHOQOL-BREF is scored from 1 to 5 on a response scale, which is stipulated as a five-point ordinal scale. The scores are then transformed linearly to a 0–100-scale.
alternative_term: WHO-QOL BREF
from pub med: true

Axiom
annotated source: World Health Organization quality of life instrument, short form
annotated property: hasDefinition
annotated target: The WHOQOL-BREF is a 26-item instrument consisting of four domains: physical health (7 items), psychological health (6 items), social relationships (3 items), and environmental health (8 items); it also contains QOL and general health items. Each individual item of the WHOQOL-BREF is scored from 1 to 5 on a response scale, which is stipulated as a five-point ordinal scale. The scores are then transformed linearly to a 0–100-scale.

familial (autosomal dominant) focal epilepsy
type: Class
subclass of: epilepsy
has definition: Familial (autosomal dominant) focal epilepsies are monogenic (single gene) forms of epilepsy identified in large families with an epileptic trait segregating in the absence of environmental factors.
from EPILONT: true

Axiom
annotated source: familial (autosomal dominant) focal epilepsy
annotated property: hasDefinition
annotated target: Familial (autosomal dominant) focal epilepsies are monogenic (single gene) forms of epilepsy identified in large families with an epileptic trait segregating in the absence of environmental factors.

focal autonomic seizure with epigastric sensation or with nausea / vomiting
type: Class
subclass of: Focal autonomic seizure
has definition: Seizures with these features typically arise in the mesial temporal lobe.
from ILAE: true

Axiom
annotated source: focal autonomic seizure with epigastric sensation or with nausea / vomiting
annotated property: hasDefinition
annotated target: Seizures with these features typically arise in the mesial temporal lobe.

focal autonomic seizure with hypoventilation/hyperventilation/altered respiration
type: Class
subclass of: Focal autonomic seizure
from ILAE: true

focal autonomic seizure with pallor/flushing
type: Class
subclass of: Focal autonomic seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/15562299
has definition: Seizures with cutaneous manifestations such as flushing (markedly red in the face) or pallor (pale color of the skin).
comment on definition: Modified definition
from article: true
from ILAE: true

focal autonomic seizure with palpitation/tachycardia /bradycardia/asystole
type: Class
subclass of: Focal autonomic seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/23862049
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/25988019
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/26038597
has definition: Seizures with cardiac arrhythmias such as change in heart rate variability, ictal tachycardias, ictal bradycardia, atrioventricular (AV) block and asystole.
comment on definition: Modified definition
from ILAE: true
from pub med: true

focal autonomic seizure with pupillary dilation/constriction
type: Class
subclass of: Focal autonomic seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/22050551
from article: true
from ILAE: true
from pub med: true

focal autonomic seizure with urge to urinate/defecate
type: Class
subclass of: Focal autonomic seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/10932282
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/16060951
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/29686574
has definition: These are focal onset seizures with autonomic phenomena. The epigastric aura, an urge to urinate has been associated with a seizure focus in the right hemisphere. The ictal urge to defecate has been reported rarely and has not been lateralized.
comment on definition: Modified definition
from ILAE: true
from pub med: true

focal cognitive seizure with conduction dysphasia/aphasia
type: Class
subclass of: focal cognitive seizure
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK2605
has definition: The onset of inability to repeat speech that is heard, due to failure to encode phonological information, in the setting of intact auditory comprehension (full understanding of what is heard), and fluent speech production (subject to paraphrasic errors).
from ILAE: true
from NCBI book: true

Axiom
annotated source: focal cognitive seizure with conduction dysphasia/aphasia
annotated property: hasDefinition
annotated target: The onset of inability to repeat speech that is heard, due to failure to encode phonological information, in the setting of intact auditory comprehension (full understanding of what is heard), and fluent speech production (subject to paraphrasic errors).

focal cognitive seizure with de javu / jamais vu
type: Class
subclass of: focal cognitive seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/22957231
has definition: Characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu).
from article: true
from ILAE: true
from pub med: true

Axiom
annotated source: focal cognitive seizure with de javu / jamais vu
annotated property: hasDefinition
annotated target: Characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu).

focal cognitive seizure with dyscalculia/acalculia
type: Class
subclass of: focal cognitive seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/21478188
has definition: Characterized by difficulty completing or understanding mathematical calculation. This seizure type is seen in seizures involving the dominant hemisphere parieto-temporal lobe region.
from ILAE: true
from pub med: true

Axiom
annotated source: focal cognitive seizure with dyscalculia/acalculia
annotated property: hasDefinition
annotated target: Characterized by difficulty completing or understanding mathematical calculation. This seizure type is seen in seizures involving the dominant hemisphere parieto-temporal lobe region.

focal cognitive seizure with dysgraphia/agraphia
type: Class
subclass of: focal cognitive seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/14667072
has definition: Characterized by difficulty in writing. This seizure type is seen in seizures involving the dominant hemisphere parieto-temporal lobe region.
from ILAE: true
from pub med: true

Axiom
annotated source: focal cognitive seizure with dysgraphia/agraphia
annotated property: hasDefinition
annotated target: Characterized by difficulty in writing. This seizure type is seen in seizures involving the dominant hemisphere parieto-temporal lobe region.

focal cognitive seizure with dyslexia/alexia
type: Class
subclass of: focal cognitive seizure
has definition: The seizure onset is associated with inability to read, due to impairment in understanding written words. This seizure type is seen in seizures involving the dominant hemisphere parieto-temporal lobe region.
from ILAE: true

Axiom
annotated source: focal cognitive seizure with dyslexia/alexia
annotated property: hasDefinition
annotated target: The seizure onset is associated with inability to read, due to impairment in understanding written words. This seizure type is seen in seizures involving the dominant hemisphere parieto-temporal lobe region.

focal cognitive seizure with expressive dysphasia/aphasia
type: Class
subclass of: focal cognitive seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/16563807
has definition: The onset of inability to speak, in a patient who reports being aware of what they wished to say but being unable to express this. This seizure type is to be distinguished from a focal motor seizure with dysarthria/anarthria in which the patient speaks but speech is poorly articulated (a speech motor disorder).
from article: true
from ILAE: true
from pub med: true

Axiom
annotated source: focal cognitive seizure with expressive dysphasia/aphasia
annotated property: hasDefinition
annotated target: The onset of inability to speak, in a patient who reports being aware of what they wished to say but being unable to express this. This seizure type is to be distinguished from a focal motor seizure with dysarthria/anarthria in which the patient speaks but speech is poorly articulated (a speech motor disorder).

focal cognitive seizure with receptive dysphasia/aphasia
type: Class
subclass of: focal cognitive seizure
has definition: The onset of inability to understand language in the absence of general confusion. This seizure type is seen in seizures involving the dominant hemisphere parieto-temporal lobe region.
from ILAE: true

Axiom
annotated source: focal cognitive seizure with receptive dysphasia/aphasia
annotated property: hasDefinition
annotated target: The onset of inability to understand language in the absence of general confusion. This seizure type is seen in seizures involving the dominant hemisphere parieto-temporal lobe region.

focal emotional seizure with fear/anxiety/panic
type: Class
subclass of: Focal emotional seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/11039971
has definition: Characterized by the presence of fear, worry, anxiety or panic as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures. These seizures arise in mesial temporal networks, especially the amygdala. They can be distinguished from panic attacks, by the presence of impaired awareness, automatisms and other features of an epileptic seizure appearing in a stereotyped manner. They are also distinguished from a focal autonomic seizure with epigastric sensation, where the onset seizure feature is an autonomic epigastric sensation, and fear may be present as a secondary feature.
from article: true
from ILAE: true
from pub med: true

Axiom
annotated source: focal emotional seizure with fear/anxiety/panic
annotated property: hasDefinition
annotated target: Characterized by the presence of fear, worry, anxiety or panic as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures. These seizures arise in mesial temporal networks, especially the amygdala. They can be distinguished from panic attacks, by the presence of impaired awareness, automatisms and other features of an epileptic seizure appearing in a stereotyped manner. They are also distinguished from a focal autonomic seizure with epigastric sensation, where the onset seizure feature is an autonomic epigastric sensation, and fear may be present as a secondary feature.

focal motor seizure with dysarthria / anarthria
type: Class
subclass of: Focal motor seizure
has db x ref: https://www.ncbi.nlm.nih.gov/books/NBK2598
has definition: The onset of the seizure is characterized by difficulty with articulation of speech, due to impaired coordination of muscles involved in speech sound production. Receptive and expressive language functions are intact, however speech is poorly articulated and is less intelligible.
from ILAE: true
from NCBI book: true

Axiom
annotated source: focal motor seizure with dysarthria / anarthria
annotated property: hasDefinition
annotated target: The onset of the seizure is characterized by difficulty with articulation of speech, due to impaired coordination of muscles involved in speech sound production. Receptive and expressive language functions are intact, however speech is poorly articulated and is less intelligible.

focal motor seizure with paresis/paralysis
type: Class
subclass of: Focal motor seizure
has definition: The seizure onset is characterized by weakness or complete paralysis of a muscle or group of muscles.
from article: true
from ILAE: true

Axiom
annotated source: focal motor seizure with paresis/paralysis
annotated property: hasDefinition
annotated target: The seizure onset is characterized by weakness or complete paralysis of a muscle or group of muscles.

lateral / neocortical temporal lobe seizure
type: Class
subclass of: temporal lobe seizure
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/15562304
has definition: Lateral temporal lobe seizures may have an initial focal seizure with auditory or vertiginous features. The focal sensory auditory seizure is usually a basic sound such as buzzing or ringing (rather than formed speech). If the sound is heard in only one ear it suggests the seizure is in the contralateral hemisphere
from ILAE: true
from pub med: true

Axiom
annotated source: lateral / neocortical temporal lobe seizure
annotated property: hasDefinition
annotated target: Lateral temporal lobe seizures may have an initial focal seizure with auditory or vertiginous features. The focal sensory auditory seizure is usually a basic sound such as buzzing or ringing (rather than formed speech). If the sound is heard in only one ear it suggests the seizure is in the contralateral hemisphere

methyl-6,7-dimethoxy-4-ethyl-beta-carboline-3-carboxylate model
type: Class
subclass of: beta-carboline model
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/24967532
has definition: Animal models of seizures evoked by the beta-carboline DMCM (methyl-6,7-dimethoxy-4-ethyl-β-carboline-3-carboxylate).
comment on definition: Modified definition
from pub med: true

primary sensory area (post-central gyrus) seizure
type: Class
subclass of: parietal lobe seizure
has definition: Seizures onset with contralateral (or rarely ipsilateral or bilateral) focal somatosensory seizure, most commonly paraesthesias with tingling and/or numbness. There may be prickling, tickling, crawling or electric-shock sensations in the affected body part. The sensory abnormality may spread sequentially along a body part as the seizure spreads on the cortex according to the sensory homunculus (Jacksonian march), when this occurs motor activity in the affected body part commonly follows. Less common sensory features include pain and thermal perceptions (such as sensations of burning or cold).
from ILAE: true

Axiom
annotated source: primary sensory area (post-central gyrus) seizure
annotated property: hasDefinition
annotated target: Seizures onset with contralateral (or rarely ipsilateral or bilateral) focal somatosensory seizure, most commonly paraesthesias with tingling and/or numbness. There may be prickling, tickling, crawling or electric-shock sensations in the affected body part. The sensory abnormality may spread sequentially along a body part as the seizure spreads on the cortex according to the sensory homunculus (Jacksonian march), when this occurs motor activity in the affected body part commonly follows. Less common sensory features include pain and thermal perceptions (such as sensations of burning or cold).

rarely repeated seizure (oligo-epilepsy)
type: Class
subclass of: seizure not necessarily requiring a diagnosis of epilepsy
has db x ref: https://www.ncbi.nlm.nih.gov/pubmed/27657542
has definition: A form of epilepsy in which the patient has only a few seizures
alternative_term: Oligoepilepsy
from EPILONT: true
from pub med: true

Axiom
annotated source: rarely repeated seizure (oligo-epilepsy)
annotated property: hasDefinition
annotated target: A form of epilepsy in which the patient has only a few seizures

secondary sensory area (parietal upper bank of the sylvian fissure) seizure
type: Class
subclass of: parietal lobe seizure
has definition: Focal cognitive seizures are seen, followed by a feeling of inability to move which may spread sequentially through body parts in a Jacksonian march (ictal paralysis), this may be followed by clonic jerking in affected body parts.
from ILAE: true

Axiom
annotated source: secondary sensory area (parietal upper bank of the sylvian fissure) seizure
annotated property: hasDefinition
annotated target: Focal cognitive seizures are seen, followed by a feeling of inability to move which may spread sequentially through body parts in a Jacksonian march (ictal paralysis), this may be followed by clonic jerking in affected body parts.

Brain connectivity TM_BIN
type: Class
equivalent class: Restriction
  some values from: epilepsy

epilepsy classification TM_BIN
type: Class
equivalent class: Restriction
  some values from: epilepsy
description: The 'epilepsy classification TM_BIN' concept enables a compilation of diverse concepts that are related to classificactions in Epilepsy via the Axiome 'isClassificationFor some epilepsy'. Thus enables the adaptation of the ontology for text mining purposes for Epilepsy related information retrieval and information extraction.

cognitive symptom
type: Class
subclass of: nervous system symptom
has definition: Cognitive symptoms involve problems with concentration and memory and can be just as disabling as the other types of symptoms. The onset of cognitive symptoms is usually realised in the same way as negative symptoms in that they only begin to be noticeable after the dominance of psychotic episodes or positive symptoms have either been controlled with medication or diminished with age.
comment on definition: Modified Defintion
from article: true

min qualified cardinality: 1

min qualified cardinality: 1

lead site I