Johannes Darms (zbmed) Satya S. Sahoo (case.edu) Alpha Tom Kodamullil (Fraunhofer SCAI) Astghik Sargsyan (Fraunhofer SCAI) Philipp Wegner (Fraunhofer SCAI) Shounak Baksi (Causality Biomodels) Stephan Gebel (Fraunhofer SCAI) Sumit Madan (Fraunhofer SCAI) The Epilepsy Ontology (EPIO) is an assembly of structured knowledge on various aspects of epilepsy, developed according to basic formal ontology (BFO) and Open Biological and Biomedical Ontology (OBO) Foundry principles. Entities and definitions are collected from the latest International League against Epilepsy (ILAE) classification, as well as from domain-specific ontologies such as Epilepsy Ontology (EPILONT), Epilepsy Syndrome Seizure Ontology (ESSO), Epilepsy Semiology(EPISEM) and Epilepsy and Seizure Ontology (EPSO) and scientific literature. This ontology is intended to be used for data management and for text mining purposes. The current release of the ontology is publicly available and is a community based effort to assemble various facets of the complex disease Epilepsy. Epilepsy Ontology (EPIO) EPIO by SEM-Group of Fraunhofer SCAI is licensed under CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). EPSO by SEM-Group of Fraunhofer SCAI is licensed under CC BY 4.0. You are free to share (copy and redistribute the material in any medium or format) and adapt (remix, transform, and build upon the material) for any purpose, even commercially. for any purpose, even commercially. The licensor cannot revoke these freedoms as long as you follow the license terms. You must give appropriate credit (by using the original ontology IRI for the whole ontology and original term IRIs for individual terms), provide a link to the license, and indicate if any changes were made. You may do so in any reasonable manner, but not in any way that suggests the licensor endorses you or your use. 2021-05-28 Version Release: 1.0.0 Relates an entity in the ontology to the name of the variable that is used to represent it in the code that generates the BFO OWL file from the lispy specification. Really of interest to developers only BFO OWL specification label Relates an entity in the ontology to the term that is used to represent it in the the CLIF specification of BFO2 Person:Alan Ruttenberg Really of interest to developers only BFO CLIF specification label editor preferred label editor preferred term editor preferred term~editor preferred label 编辑首选术语 编辑首选标签 The concise, meaningful, and human-friendly name for a class or property preferred by the ontology developers. (US-English) 对于一类或属性的简洁的、有意义的、与人类友好的名称由本体开发商首选。 （美国英语） PERSON:Daniel Schober GROUP:OBI:<http://purl.obolibrary.org/obo/obi> editor preferred label editor preferred term editor preferred term~editor preferred label 编辑首选术语 编辑首选术语~编辑首选标签 编辑首选标签 example example of usage A phrase describing how a class name should be used. May also include other kinds of examples that facilitate immediate understanding of a class semantics, such as widely known prototypical subclasses or instances of the class. Although essential for high level terms, examples for low level terms (e.g., Affymetrix HU133 array) are not A phrase describing how a term should be used and/or a citation to a work which uses it. May also include other kinds of examples that facilitate immediate understanding, such as widely know prototypes or instances of a class, or cases where a relation is said to hold. PERSON:Daniel Schober GROUP:OBI:<http://purl.obolibrary.org/obo/obi> example of usage has curation status 有管理状态 PERSON:Alan Ruttenberg PERSON:Bill Bug PERSON:Melanie Courtot OBI_0000281 has curation status 有管理状态 definition textual definition 定义 A property representing the English language definitions of what NCI means by the concept. They may also include information about the definition's source and attribution in a form that can easily be interpreted by software. English language definitions of what NCI means by the concept. These are limited to 1024 characters. They may also include information about the definition's source and attribution in a form that can easily be interpreted by software. OBI的官方定义，解释类或属性的含义。应该是亚里士多德式的，形式化和规范化的。 可以通过口语定义进行扩充。 The official OBI definition, explaining the meaning of a class or property. Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions. The official OBI definition, explaining the meaning of a class or property. Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions. The official definition, explaining the meaning of a class or property. Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions. The official definition, explaining the meaning of a class or property. Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions. 官方的定义，解释类或属性的含义。应该是亚里士多德式的，形式化和规范化的。 可以通过口语定义进行扩充。 2012-04-05: Barry Smith OBI的官方定义解释了一个类或属性的含义：'应该是亚里士多德式的，形式化和规范化的。可以用口语定义'是糟糕的。 您能解决这样的问题吗？ 解释关于类或属性的表达含义的必要和充分条件的陈述。 Alan Ruttenberg 您提出的定义是一个合理的备选，除非它很常见，没有给出必要和充分的条件。大多数情况下它们是必要的，偶尔是必要的，充分的或者仅仅仅充分的。它们通常使用不是自己定义的术语，因此它们实际上不能通过这些标准进行评估。 关于拟议定义的具体内容： 我们没有“含义”，或“表达”或“属性”的定义。对于在预期意义上的“参考”，我认为我们使用术语“指示”。对于'表达'，我认为我们和你的意思是符号，或标识符。对于“含义”，它不同于类和属性。对于类，我们希望文档能够让读者确定一个实体是否是该类的实例。对于属性，让我们的目标读者决定，给定一对潜在的关系，判断关系成立的断言正确与否。 “目标读者”部分表明我们也指定了我们期望的能够理解定义的人，并且概括了人类和计算机读者以包含文本和逻辑定义。 就我个人而言，我更愿意削弱对文档的定义，并指出什么是可取的。 我们还有一个悬而未决的问题，就是如何针对不同的受众定位不同的定义。临床读者阅读chebi需要来自受过化学训练的受众的不同类型的定义文档/定义，同样需要一个适合本体工作者的定义。 2012-04-05: Barry Smith The official OBI definition, explaining the meaning of a class or property: 'Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions' is terrible. Can you fix to something like: A statement of necessary and sufficient conditions explaining the meaning of an expression referring to a class or property. Alan Ruttenberg Your proposed definition is a reasonable candidate, except that it is very common that necessary and sufficient conditions are not given. Mostly they are necessary, occasionally they are necessary and sufficient or just sufficient. Often they use terms that are not themselves defined and so they effectively can't be evaluated by those criteria. On the specifics of the proposed definition: We don't have definitions of 'meaning' or 'expression' or 'property'. For 'reference' in the intended sense I think we use the term 'denotation'. For 'expression', I think we you mean symbol, or identifier. For 'meaning' it differs for class and property. For class we want documentation that let's the intended reader determine whether an entity is instance of the class, or not. For property we want documentation that let's the intended reader determine, given a pair of potential relata, whether the assertion that the relation holds is true. The 'intended reader' part suggests that we also specify who, we expect, would be able to understand the definition, and also generalizes over human and computer reader to include textual and logical definition. Personally, I am more comfortable weakening definition to documentation, with instructions as to what is desirable. We also have the outstanding issue of how to aim different definitions to different audiences. A clinical audience reading chebi wants a different sort of definition documentation/definition from a chemistry trained audience, and similarly there is a need for a definition that is adequate for an ontologist to work with. PERSON:Daniel Schober GROUP:OBI:<http://purl.obolibrary.org/obo/obi> DEFINITION definition definition textual definition 定义 文本定义 editor note 编者注 An administrative note intended for its editor. It may not be included in the publication version of the ontology, so it should contain nothing necessary for end users to understand the ontology. 管理者注释用于其编辑器。它可能不包含在本体的出版版本中，所以它应该不包含最终用户了解本体所需的信息。 PERSON:Daniel Schober GROUP:OBI:<http://purl.obfoundry.org/obo/obi> GROUP:OBI:<http://purl.obofoundry.org/obo/obi> IAO:0000116 uberon editor_note 编辑_注释 true editor_note 编辑_注释 IAO:0000116 uberon editor_note 1 true editor_note editor note 编者注 IAO:0000116 definition editor term editor 术语编辑者 Name of editor entering the definition in the file. The definition editor is a point of contact for information regarding the term. The definition editor may be, but is not always, the author of the definition, which may have been worked upon by several people Name of editor entering the term in the file. The term editor is a point of contact for information regarding the term. The term editor may be, but is not always, the author of the definition, which may have been worked upon by several people 输入文件中术语编辑者的名称。术语编辑者是有关术语的信息交汇点。术语编辑者可以是，但并不总是，定义的作者，这可能是由几个人完成 20110707, MC: label update to term editor and definition modified accordingly. See http://code.google.com/p/information-artifact-ontology/issues/detail?id=115. 20110707, MC: label update to term editor and definition modified accordingly. See https://github.com/information-artifact-ontology/IAO/issues/115. 20110707，MC：术语编辑和定义进行相应的修改。见http://code.google.com/p/information-artifact-ontology/issues/detail?id=115。 PERSON:Daniel Schober GROUP:OBI:<http://purl.obolibrary.org/obo/obi> definition editor term editor 术语编辑者 alternative term An alternative name for a class or property which means the same thing as the preferred name (semantically equivalent) PERSON:Daniel Schober GROUP:OBI:<http://purl.obolibrary.org/obo/obi> alternative term definition source 定义来源 formal citation, e.g. identifier in external database to indicate / attribute source(s) for the definition. Free text indicate / attribute source(s) for the definition. EXAMPLE: Author Name, URI, MeSH Term C04, PUBMED ID, Wiki uri on 31.01.2007 正式引用，例如在外部数据库中的标识符，用于表示/定义的属性源（S）。自由文本表示/为定义属性源（S）。实例：在2007年1月31日的作者姓名，URI，MeSH术语C04，PUBMEDID，维基uri PERSON:Daniel Schober Discussion on obo-discuss mailing-list, see http://bit.ly/hgm99w GROUP:OBI:<http://purl.obolibrary.org/obo/obi> 论OBO-讨论邮件-列表，请参阅http://bit.ly/hgm99w definition source 定义来源 curator note An administrative note of use for a curator but of no use for a user PERSON:Alan Ruttenberg IAO:0000232 uberon curator_notes 1 true curator_notes curator note curator notes imported from 引自 For external terms/classes, the ontology from which the term was imported 外部术语/类，术语引入的本体 PERSON:Alan Ruttenberg PERSON:Melanie Courtot GROUP:OBI:<http://purl.obolibrary.org/obo/obi> imported from imported from 引自 OBO foundry unique label elucidation person:Alan Ruttenberg Person:Barry Smith Primitive terms in a highest-level ontology such as BFO are terms which are so basic to our understanding of reality that there is no way of defining them in a non-circular fashion. For these, therefore, we can provide only elucidations, supplemented by examples and by axioms elucidation has associated axiom(nl) Person:Alan Ruttenberg Person:Alan Ruttenberg An axiom associated with a term expressed using natural language has associated axiom(nl) has associated axiom(fol) Person:Alan Ruttenberg Person:Alan Ruttenberg An axiom expressed in first order logic using CLIF syntax has associated axiom(fol) synonym tag display synonym An association created to allow the source CDRH to assign a parent to each concept with the intent of creating a hierarchy that includes only terms in which they are the contributing source. A10 Conceptual Entity Has CDRH Parent Has_CDRH_Parent Has_CDRH_Parent Has_CDRH_Parent An association created to allow the source NICHD to assign a parent to each concept with the intent of creating a hierarchy that includes only terms in which they are a contributing source. A11 Conceptual Entity Has_NICHD_Parent Has_NICHD_Parent Has_NICHD_Parent An association that indicates that a finding or lab test is related to a gene, possibly through a variant or product. A13 Conceptual Entity Related_To_Genetic_Biomarker Related_To_Genetic_Biomarker Related_To_Genetic_Biomarker An association that indicates that a neoplastic disease can have the characteristics defined by a Neoplasm by Special Category concept. A14 Conceptual Entity Neoplasm_Has_Special_Category Neoplasm_Has_Special_Category Neoplasm_Has_Special_Category true A property representing a concept unique identifier within the NCI Enterprise Vocabulary Service's NCI Thesaurus. NHC0 Conceptual Entity code code code A property that represents a description of the sort of thing or category to which a concept belongs in the context of the UMLS semantic network. P106 Conceptual Entity Semantic Type Semantic_Type In general, applying semantic types aids in allowing users (or computer programs) to draw conclusions about concepts by virtue of the categories to which they have been assigned. We use a set of semantic types developed for the UMLS Metathesaurus. There are currently 134 semantic types in the UMLS. Semantic_Type Semantic_Type A property representing an alternative Preferred Name for use in some NCI systems. P107 Conceptual Entity Display Name Display_Name Display Name Display_Name Display_Name A property representing the word or phrase that NCI uses by preference to refer to the concept. P108 Conceptual Entity Preferred Name Preferred_Name Preferred Name Preferred Term Preferred_Name Preferred_Name A property representing the concept unique identifier (CUI) assigned by the National Library of Medicine (NLM). If a concept in any NCI-maintained knowledgebase exists in the NLM Unified Medical Language System (UMLS), NCI includes the NLM CUI among the information we provide about the concept. P207 Conceptual Entity UMLS CUI UMLS_CUI UMLS_CUI UMLS_CUI A property representing the concept unique identifier (CUI) for those concepts that appear in NCI Metathesaurus but not in the National Library of Medicine Unified Medical Language System (NLM UMLS). P208 Conceptual Entity NCI Metathesaurus CUI NCI_META_CUI NCI_META_CUI NCI_META_CUI A property used to indicate the standing of a concept in relation to currently accepted classifications and concepts. In NCI Thesaurus concept status subtype indicates concepts with unusual and problematic characteristics that should be evaluated by people and/or programs before those concept are used. P310 Conceptual Entity Concept Status Concept_Status Concept_Status Concept_Status A property used to flag terms that are part of an FDA data standard manual, including Route of Administration, Dosage Form, Package Type and Potency. P317 Conceptual Entity FDA Table FDA_Table FDA_Table FDA_Table A property is used to indicate when a non-EVS entity has contributed to, and has a stake in, a concept. This is used where such entities, within or outside NCI, have indicated the need to be able to track their own concepts. A single concept can have multiple instances of this property if multiple entities have such a defined stake. P322 Conceptual Entity Contributing Source Contributing_Source Contributing_Source Contributing_Source A property representing the English language definition of a concept from a source other than NCI. P325 Conceptual Entity [source] Definition ALT_DEFINITION ALT_DEFINITION ALT_DEFINITION A property representing a term that had been used in a coding system and then subsumed by the given NCIt concept. P333 Conceptual Entity Use For Use_For Use_For Use_For A property representing the matching ICD-O-3 code for the NCI Thesaurus concept. P334 Conceptual Entity ICD-O-3 Code ICD-O-3_Code ICD-O-3_Code ICD-O-3_Code A property representing the morphologic, clinical, and genetic profile of a neoplastic growth that defines it as benign, malignant, or of uncertain cancerous potential. P363 Conceptual Entity Neoplastic Status Neoplastic_Status FDA Neoplastic_Status Neoplastic_Status true A property representing a retired unique concept identifier created and stored as Concept Name by legacy EVS software. Use of these values was long discouraged, but continued as late as 2009 when creation of new values ceased and Concept Name was retired. Legacy values are intended solely to help resolve and update earlier coding. P366 Conceptual Entity Legacy Concept Name Legacy Concept Name Legacy_Concept_Name Legacy Concept Name Legacy_Concept_Name A property representing a term chosen by NICHD to be used in the representation of the NICHD hierarchy. P371 Conceptual Entity NICHD_Hierarchy_Term NICHD NICHD_Hierarchy_Term NICHD_Hierarchy_Term A property representing whether a value set is ready for publication in the browser. P372 Conceptual Entity Publish_Value_Set Publish_Value_Set Publish_Value_Set A property representing that a term in another terminology has been mapped to a term in NCIt and describes the relationship between the mapped terms. P375 Conceptual Entity Maps_To Maps_To Maps_To A property representing notations made by NCI vocabulary curators. They are intended to provide supplemental, unstructured information to the user or additional insight about the concept. P98 Conceptual Entity DesignNote DesignNote DesignNote DesignNote has_MedDRA_id ISA alternative term An alternative term used by the ISA tools project (http://isa-tools.org). Requested by Alejandra Gonzalez-Beltran https://sourceforge.net/tracker/?func=detail&aid=3603413&group_id=177891&atid=886178 Person: Alejandra Gonzalez-Beltran Person: Philippe Rocca-Serra ISA tools project (http://isa-tools.org) ISA alternative term IEDB alternative term An alternative term used by the IEDB. PERSON:Randi Vita, Jason Greenbaum, Bjoern Peters IEDB IEDB alternative term S dubious_for_taxon T if it is probably the case that no instances of S can be found in any instance of T. RO:0002174 uberon dubious_for_taxon true true dubious_for_taxon this relation lacks a strong logical interpretation, but can be used in place of never_in_taxon where it is desirable to state that the definition of the class is too strict for the taxon under consideration, but placing a never_in_taxon link would result in a chain of inconsistencies that will take time to resolve. Example: metencephalon in teleost dubious_for_taxon S present_in_taxon T if some instance of T has some S. This does not means that all instances of T have an S - it may only be certain life stages or sexes that have S RO:0002175 applicable for taxon uberon present_in_taxon true true present_in_taxon present_in_taxon 'anterior end of organism' is-opposite-of 'posterior end of organism' 'increase in temperature' is-opposite-of 'decrease in temperature' x is the opposite of y if there exists some distance metric M, and there exists no z such as M(x,z) <= M(x,y) or M(y,z) <= M(y,x). RO:0002604 quality is_opposite_of true true is_opposite_of is opposite of is_opposite_of An alternate textual definition for a class taken unmodified from an external source. This definition may have been used to derive a generalized definition for the new class. UBPROP:0000001 uberon external_definition true external_definition This annotation property may be replaced with an annotation property from an external ontology such as IAO external_definition A textual description of an axiom loss in this ontology compared to an external ontology. UBPROP:0000002 uberon axiom_lost_from_external_ontology true axiom_lost_from_external_ontology This annotation property may be replaced with an annotation property from an external ontology such as IAO axiom_lost_from_external_ontology Notes on the homology status of this class. UBPROP:0000003 uberon homology_notes true homology_notes This annotation property may be replaced with an annotation property from an external ontology such as IAO homology_notes Used to connect a class to an adjectival form of its label. For example, a class with label 'intestine' may have a relational adjective 'intestinal'. UBPROP:0000007 uberon has_relational_adjective true has_relational_adjective has_relational_adjective Notes on the how instances of this class vary across species. UBPROP:0000008 uberon taxon_notes true taxon_notes taxon_notes Notes on the ontogenic development of instances of this class. This annotation property may be replaced with an annotation property from an external ontology such as IAO UBPROP:0000011 uberon development_notes true development_notes development_notes Notes on how similar or equivalent classes are represented in other ontologies. This annotation property may be replaced with an annotation property from an external ontology such as IAO UBPROP:0000012 uberon external_ontology_notes true external_ontology_notes external_ontology_notes FMA has terms like 'set of X'. In general we do not include set-of terms in uberon, but provide a mapping between the singular form and the FMA set term UBPROP:0000202 uberon fma_set_term true fma_set_term fma_set_term excluded_subClassOf true excluded subClassOf A metadata relation between a class and its taxonomic rank (eg species, family) ncbi_taxonomy has_rank uberon dc-contributor true dc-contributor contributor uberon dc-creator true dc-creator creator created_by creation_date has_alternative_id has_broad_synonym A property representing a reference to an identical or very similar object in another database. Reference database or publication source. Conceptual Entity xRef database_cross_reference xRef 数据库_交叉_引用 A property representing a fully qualified synonym, contains the string, term type, source, and an optional source code if appropriate. Each subfield is deliniated to facilitate interpretation by software. An alternative label for a given entity such as a commonly used abbreviation or synonym. FULL_SYN Synonym with Source Data alternative_term has exact synonym has_exact_synonym has_narrow_synonym Name space of the ontology. disease_ontology has_obo_namespace has_obo_namespace 有_obo_命名空间 has_related_synonym oboInOwl:hasRelatedSynonym An identifier is an information content entity that is the outcome of a dubbing process and is used to refer to one instance of entity shared by a group of people to refer to that individual entity. id An association that connects the concept defining a particular terminology subset with concepts that belong to this subset. In subset. Concept_In_Subset in subset in_subset shorthand Comment. comment Is defined by. rdfs:isDefinedBy label A human readable name for this class. label label 标签 http://www.w3.org/2000/01/rdf-schema#seeAlso uberon seeAlso true true seeAlso see also seeAlso uberon depicted_by true depicted_by depicted by Concept is taken from other resources than PubMed concept is derived from Epilepsy Ontology (EPILONT) https://bioportal.bioontology.org/ontologies/EPILONT concept is derived from Epilepsy Syndrome Seizure Ontology (ESSO) https://bioportal.bioontology.org/ontologies/ESSO concept isderived from Epilepsy and Seizure Ontology (EpSO) https://bioportal.bioontology.org/ontologies/EPSO concept is derived from International League Against Epilpesy (ILAE) seizure classification (https://www.epilepsydiagnosis.org/index.html Concept is taken from NCBI book Concepts is taken from PubMed article The subject classifies the object. isClassificationFor The subject describes the estimated relation between brain regions (object). isBrainConnectivityFor The subject is a risk factor the the object. isRiskFactorFor The subject describes a diagnosis for the object. isDiagnosisFor The subject describes as sign/symptom or multiple signs/symptoms for the object. isSignAndSymptomFor The subject describes a syndrome for the object. isSyndromeFor The subject describes the object's limitation. isImitatorFor The subject is the cause (etiology) for the object. isEtiologyFor The subject assignes the object a seizure class. isSeizureClassificationFor The subject describes a treatment for the object. isTreatmentFor The subject describes an anatomical feature of the references object. isAnatomicalEntityFor The subject describes any process that is carried out at the cellular level, but not necessarily restricted to a single cell for the object. isCellularProcessFor entity Entity Julius Caesar Verdi’s Requiem the Second World War your body mass index BFO 2 Reference: In all areas of empirical inquiry we encounter general terms of two sorts. First are general terms which refer to universals or types:animaltuberculosissurgical procedurediseaseSecond, are general terms used to refer to groups of entities which instantiate a given universal but do not correspond to the extension of any subuniversal of that universal because there is nothing intrinsic to the entities in question by virtue of which they – and only they – are counted as belonging to the given group. Examples are: animal purchased by the Emperortuberculosis diagnosed on a Wednesdaysurgical procedure performed on a patient from Stockholmperson identified as candidate for clinical trial #2056-555person who is signatory of Form 656-PPVpainting by Leonardo da VinciSuch terms, which represent what are called ‘specializations’ in [81 Entity doesn't have a closure axiom because the subclasses don't necessarily exhaust all possibilites. For example Werner Ceusters 'portions of reality' include 4 sorts, entities (as BFO construes them), universals, configurations, and relations. It is an open question as to whether entities as construed in BFO will at some point also include these other portions of reality. See, for example, 'How to track absolutely everything' at http://www.referent-tracking.com/_RTU/papers/CeustersICbookRevised.pdf An entity is anything that exists or has existed or will exist. (axiom label in BFO2 Reference: [001-001]) entity Entity doesn't have a closure axiom because the subclasses don't necessarily exhaust all possibilites. For example Werner Ceusters 'portions of reality' include 4 sorts, entities (as BFO construes them), universals, configurations, and relations. It is an open question as to whether entities as construed in BFO will at some point also include these other portions of reality. See, for example, 'How to track absolutely everything' at http://www.referent-tracking.com/_RTU/papers/CeustersICbookRevised.pdf per discussion with Barry Smith An entity is anything that exists or has existed or will exist. (axiom label in BFO2 Reference: [001-001]) continuant Continuant An entity that exists in full at any time in which it exists at all, persists through time while maintaining its identity and has no temporal parts. BFO 2 Reference: Continuant entities are entities which can be sliced to yield parts only along the spatial dimension, yielding for example the parts of your table which we call its legs, its top, its nails. ‘My desk stretches from the window to the door. It has spatial parts, and can be sliced (in space) in two. With respect to time, however, a thing is a continuant.’ [60, p. 240 Continuant doesn't have a closure axiom because the subclasses don't necessarily exhaust all possibilites. For example, in an expansion involving bringing in some of Ceuster's other portions of reality, questions are raised as to whether universals are continuants A continuant is an entity that persists, endures, or continues to exist through time while maintaining its identity. (axiom label in BFO2 Reference: [008-002]) if b is a continuant and if, for some t, c has_continuant_part b at t, then c is a continuant. (axiom label in BFO2 Reference: [126-001]) if b is a continuant and if, for some t, cis continuant_part of b at t, then c is a continuant. (axiom label in BFO2 Reference: [009-002]) if b is a material entity, then there is some temporal interval (referred to below as a one-dimensional temporal region) during which b exists. (axiom label in BFO2 Reference: [011-002]) (forall (x y) (if (and (Continuant x) (exists (t) (continuantPartOfAt y x t))) (Continuant y))) // axiom label in BFO2 CLIF: [009-002] (forall (x y) (if (and (Continuant x) (exists (t) (hasContinuantPartOfAt y x t))) (Continuant y))) // axiom label in BFO2 CLIF: [126-001] (forall (x) (if (Continuant x) (Entity x))) // axiom label in BFO2 CLIF: [008-002] (forall (x) (if (Material Entity x) (exists (t) (and (TemporalRegion t) (existsAt x t))))) // axiom label in BFO2 CLIF: [011-002] continuant (forall (x) (if (Continuant x) (Entity x))) // axiom label in BFO2 CLIF: [008-002] (forall (x) (if (Material Entity x) (exists (t) (and (TemporalRegion t) (existsAt x t))))) // axiom label in BFO2 CLIF: [011-002] Continuant doesn't have a closure axiom because the subclasses don't necessarily exhaust all possibilites. For example, in an expansion involving bringing in some of Ceuster's other portions of reality, questions are raised as to whether universals are continuants A continuant is an entity that persists, endures, or continues to exist through time while maintaining its identity. (axiom label in BFO2 Reference: [008-002]) if b is a continuant and if, for some t, c has_continuant_part b at t, then c is a continuant. (axiom label in BFO2 Reference: [126-001]) if b is a continuant and if, for some t, cis continuant_part of b at t, then c is a continuant. (axiom label in BFO2 Reference: [009-002]) if b is a material entity, then there is some temporal interval (referred to below as a one-dimensional temporal region) during which b exists. (axiom label in BFO2 Reference: [011-002]) (forall (x y) (if (and (Continuant x) (exists (t) (continuantPartOfAt y x t))) (Continuant y))) // axiom label in BFO2 CLIF: [009-002] (forall (x y) (if (and (Continuant x) (exists (t) (hasContinuantPartOfAt y x t))) (Continuant y))) // axiom label in BFO2 CLIF: [126-001] occurrent Occurrent An entity that has temporal parts and that happens, unfolds or develops through time. BFO 2 Reference: every occurrent that is not a temporal or spatiotemporal region is s-dependent on some independent continuant that is not a spatial region BFO 2 Reference: s-dependence obtains between every process and its participants in the sense that, as a matter of necessity, this process could not have existed unless these or those participants existed also. A process may have a succession of participants at different phases of its unfolding. Thus there may be different players on the field at different times during the course of a football game; but the process which is the entire game s-depends_on all of these players nonetheless. Some temporal parts of this process will s-depend_on on only some of the players. Occurrent doesn't have a closure axiom because the subclasses don't necessarily exhaust all possibilites. An example would be the sum of a process and the process boundary of another process. Simons uses different terminology for relations of occurrents to regions: Denote the spatio-temporal location of a given occurrent e by 'spn[e]' and call this region its span. We may say an occurrent is at its span, in any larger region, and covers any smaller region. Now suppose we have fixed a frame of reference so that we can speak not merely of spatio-temporal but also of spatial regions (places) and temporal regions (times). The spread of an occurrent, (relative to a frame of reference) is the space it exactly occupies, and its spell is likewise the time it exactly occupies. We write 'spr[e]' and `spl[e]' respectively for the spread and spell of e, omitting mention of the frame. An occurrent is an entity that unfolds itself in time or it is the instantaneous boundary of such an entity (for example a beginning or an ending) or it is a temporal or spatiotemporal region which such an entity occupies_temporal_region or occupies_spatiotemporal_region. (axiom label in BFO2 Reference: [077-002]) Every occurrent occupies_spatiotemporal_region some spatiotemporal region. (axiom label in BFO2 Reference: [108-001]) b is an occurrent entity iff b is an entity that has temporal parts. (axiom label in BFO2 Reference: [079-001]) (forall (x) (iff (Occurrent x) (and (Entity x) (exists (y) (temporalPartOf y x))))) // axiom label in BFO2 CLIF: [079-001] occurrent Occurrent doesn't have a closure axiom because the subclasses don't necessarily exhaust all possibilites. An example would be the sum of a process and the process boundary of another process. per discussion with Barry Smith Simons uses different terminology for relations of occurrents to regions: Denote the spatio-temporal location of a given occurrent e by 'spn[e]' and call this region its span. We may say an occurrent is at its span, in any larger region, and covers any smaller region. Now suppose we have fixed a frame of reference so that we can speak not merely of spatio-temporal but also of spatial regions (places) and temporal regions (times). The spread of an occurrent, (relative to a frame of reference) is the space it exactly occupies, and its spell is likewise the time it exactly occupies. We write 'spr[e]' and `spl[e]' respectively for the spread and spell of e, omitting mention of the frame. An occurrent is an entity that unfolds itself in time or it is the instantaneous boundary of such an entity (for example a beginning or an ending) or it is a temporal or spatiotemporal region which such an entity occupies_temporal_region or occupies_spatiotemporal_region. (axiom label in BFO2 Reference: [077-002]) Every occurrent occupies_spatiotemporal_region some spatiotemporal region. (axiom label in BFO2 Reference: [108-001]) b is an occurrent entity iff b is an entity that has temporal parts. (axiom label in BFO2 Reference: [079-001]) (forall (x) (iff (Occurrent x) (and (Entity x) (exists (y) (temporalPartOf y x))))) // axiom label in BFO2 CLIF: [079-001] ic IndependentContinuant a chair a heart a leg a molecule a spatial region an atom an orchestra. an organism the bottom right portion of a human torso the interior of your mouth b is an independent continuant = Def. b is a continuant which is such that there is no c and no t such that b s-depends_on c at t. (axiom label in BFO2 Reference: [017-002]) For any independent continuant b and any time t there is some spatial region r such that b is located_in r at t. (axiom label in BFO2 Reference: [134-001]) For every independent continuant b and time t during the region of time spanned by its life, there are entities which s-depends_on b during t. (axiom label in BFO2 Reference: [018-002]) (forall (x t) (if (IndependentContinuant x) (exists (r) (and (SpatialRegion r) (locatedInAt x r t))))) // axiom label in BFO2 CLIF: [134-001] (forall (x t) (if (and (IndependentContinuant x) (existsAt x t)) (exists (y) (and (Entity y) (specificallyDependsOnAt y x t))))) // axiom label in BFO2 CLIF: [018-002] (iff (IndependentContinuant a) (and (Continuant a) (not (exists (b t) (specificallyDependsOnAt a b t))))) // axiom label in BFO2 CLIF: [017-002] independent continuant b is an independent continuant = Def. b is a continuant which is such that there is no c and no t such that b s-depends_on c at t. (axiom label in BFO2 Reference: [017-002]) For any independent continuant b and any time t there is some spatial region r such that b is located_in r at t. (axiom label in BFO2 Reference: [134-001]) For every independent continuant b and time t during the region of time spanned by its life, there are entities which s-depends_on b during t. (axiom label in BFO2 Reference: [018-002]) (forall (x t) (if (IndependentContinuant x) (exists (r) (and (SpatialRegion r) (locatedInAt x r t))))) // axiom label in BFO2 CLIF: [134-001] (forall (x t) (if (and (IndependentContinuant x) (existsAt x t)) (exists (y) (and (Entity y) (specificallyDependsOnAt y x t))))) // axiom label in BFO2 CLIF: [018-002] (iff (IndependentContinuant a) (and (Continuant a) (not (exists (b t) (specificallyDependsOnAt a b t))))) // axiom label in BFO2 CLIF: [017-002] s-region SpatialRegion BFO 2 Reference: Spatial regions do not participate in processes. Spatial region doesn't have a closure axiom because the subclasses don't exhaust all possibilites. An example would be the union of a spatial point and a spatial line that doesn't overlap the point, or two spatial lines that intersect at a single point. In both cases the resultant spatial region is neither 0-dimensional, 1-dimensional, 2-dimensional, or 3-dimensional. A spatial region is a continuant entity that is a continuant_part_of spaceR as defined relative to some frame R. (axiom label in BFO2 Reference: [035-001]) All continuant parts of spatial regions are spatial regions. (axiom label in BFO2 Reference: [036-001]) (forall (x y t) (if (and (SpatialRegion x) (continuantPartOfAt y x t)) (SpatialRegion y))) // axiom label in BFO2 CLIF: [036-001] (forall (x) (if (SpatialRegion x) (Continuant x))) // axiom label in BFO2 CLIF: [035-001] spatial region Spatial region doesn't have a closure axiom because the subclasses don't exhaust all possibilites. An example would be the union of a spatial point and a spatial line that doesn't overlap the point, or two spatial lines that intersect at a single point. In both cases the resultant spatial region is neither 0-dimensional, 1-dimensional, 2-dimensional, or 3-dimensional. per discussion with Barry Smith A spatial region is a continuant entity that is a continuant_part_of spaceR as defined relative to some frame R. (axiom label in BFO2 Reference: [035-001]) All continuant parts of spatial regions are spatial regions. (axiom label in BFO2 Reference: [036-001]) (forall (x y t) (if (and (SpatialRegion x) (continuantPartOfAt y x t)) (SpatialRegion y))) // axiom label in BFO2 CLIF: [036-001] (forall (x) (if (SpatialRegion x) (Continuant x))) // axiom label in BFO2 CLIF: [035-001] t-region TemporalRegion Temporal region doesn't have a closure axiom because the subclasses don't exhaust all possibilites. An example would be the mereological sum of a temporal instant and a temporal interval that doesn't overlap the instant. In this case the resultant temporal region is neither 0-dimensional nor 1-dimensional A temporal region is an occurrent entity that is part of time as defined relative to some reference frame. (axiom label in BFO2 Reference: [100-001]) All parts of temporal regions are temporal regions. (axiom label in BFO2 Reference: [101-001]) Every temporal region t is such that t occupies_temporal_region t. (axiom label in BFO2 Reference: [119-002]) (forall (x y) (if (and (TemporalRegion x) (occurrentPartOf y x)) (TemporalRegion y))) // axiom label in BFO2 CLIF: [101-001] (forall (x) (if (TemporalRegion x) (Occurrent x))) // axiom label in BFO2 CLIF: [100-001] temporal region Temporal region doesn't have a closure axiom because the subclasses don't exhaust all possibilites. An example would be the mereological sum of a temporal instant and a temporal interval that doesn't overlap the instant. In this case the resultant temporal region is neither 0-dimensional nor 1-dimensional per discussion with Barry Smith A temporal region is an occurrent entity that is part of time as defined relative to some reference frame. (axiom label in BFO2 Reference: [100-001]) All parts of temporal regions are temporal regions. (axiom label in BFO2 Reference: [101-001]) Every temporal region t is such that t occupies_temporal_region t. (axiom label in BFO2 Reference: [119-002]) (forall (x y) (if (and (TemporalRegion x) (occurrentPartOf y x)) (TemporalRegion y))) // axiom label in BFO2 CLIF: [101-001] (forall (x) (if (TemporalRegion x) (Occurrent x))) // axiom label in BFO2 CLIF: [100-001] 2d-s-region TwoDimensionalSpatialRegion an infinitely thin plane in space. the surface of a sphere-shaped part of space A two-dimensional spatial region is a spatial region that is of two dimensions. (axiom label in BFO2 Reference: [039-001]) (forall (x) (if (TwoDimensionalSpatialRegion x) (SpatialRegion x))) // axiom label in BFO2 CLIF: [039-001] two-dimensional spatial region A two-dimensional spatial region is a spatial region that is of two dimensions. (axiom label in BFO2 Reference: [039-001]) (forall (x) (if (TwoDimensionalSpatialRegion x) (SpatialRegion x))) // axiom label in BFO2 CLIF: [039-001] st-region SpatiotemporalRegion the spatiotemporal region occupied by a human life the spatiotemporal region occupied by a process of cellular meiosis. the spatiotemporal region occupied by the development of a cancer tumor A spatiotemporal region is an occurrent entity that is part of spacetime. (axiom label in BFO2 Reference: [095-001]) All parts of spatiotemporal regions are spatiotemporal regions. (axiom label in BFO2 Reference: [096-001]) Each spatiotemporal region at any time t projects_onto some spatial region at t. (axiom label in BFO2 Reference: [099-001]) Each spatiotemporal region projects_onto some temporal region. (axiom label in BFO2 Reference: [098-001]) Every spatiotemporal region occupies_spatiotemporal_region itself. Every spatiotemporal region s is such that s occupies_spatiotemporal_region s. (axiom label in BFO2 Reference: [107-002]) (forall (r) (if (SpatioTemporalRegion r) (occupiesSpatioTemporalRegion r r))) // axiom label in BFO2 CLIF: [107-002] (forall (x t) (if (SpatioTemporalRegion x) (exists (y) (and (SpatialRegion y) (spatiallyProjectsOntoAt x y t))))) // axiom label in BFO2 CLIF: [099-001] (forall (x y) (if (and (SpatioTemporalRegion x) (occurrentPartOf y x)) (SpatioTemporalRegion y))) // axiom label in BFO2 CLIF: [096-001] (forall (x) (if (SpatioTemporalRegion x) (Occurrent x))) // axiom label in BFO2 CLIF: [095-001] (forall (x) (if (SpatioTemporalRegion x) (exists (y) (and (TemporalRegion y) (temporallyProjectsOnto x y))))) // axiom label in BFO2 CLIF: [098-001] spatiotemporal region A spatiotemporal region is an occurrent entity that is part of spacetime. (axiom label in BFO2 Reference: [095-001]) All parts of spatiotemporal regions are spatiotemporal regions. (axiom label in BFO2 Reference: [096-001]) Each spatiotemporal region at any time t projects_onto some spatial region at t. (axiom label in BFO2 Reference: [099-001]) Each spatiotemporal region projects_onto some temporal region. (axiom label in BFO2 Reference: [098-001]) Every spatiotemporal region s is such that s occupies_spatiotemporal_region s. (axiom label in BFO2 Reference: [107-002]) (forall (r) (if (SpatioTemporalRegion r) (occupiesSpatioTemporalRegion r r))) // axiom label in BFO2 CLIF: [107-002] (forall (x t) (if (SpatioTemporalRegion x) (exists (y) (and (SpatialRegion y) (spatiallyProjectsOntoAt x y t))))) // axiom label in BFO2 CLIF: [099-001] (forall (x y) (if (and (SpatioTemporalRegion x) (occurrentPartOf y x)) (SpatioTemporalRegion y))) // axiom label in BFO2 CLIF: [096-001] (forall (x) (if (SpatioTemporalRegion x) (Occurrent x))) // axiom label in BFO2 CLIF: [095-001] (forall (x) (if (SpatioTemporalRegion x) (exists (y) (and (TemporalRegion y) (temporallyProjectsOnto x y))))) // axiom label in BFO2 CLIF: [098-001] process Process a process of cell-division, \ a beating of the heart a process of meiosis a process of sleeping the course of a disease the flight of a bird the life of an organism your process of aging. An occurrent that has temporal proper parts and for some time t, p s-depends_on some material entity at t. p is a process = Def. p is an occurrent that has temporal proper parts and for some time t, p s-depends_on some material entity at t. (axiom label in BFO2 Reference: [083-003]) BFO 2 Reference: The realm of occurrents is less pervasively marked by the presence of natural units than is the case in the realm of independent continuants. Thus there is here no counterpart of ‘object’. In BFO 1.0 ‘process’ served as such a counterpart. In BFO 2.0 ‘process’ is, rather, the occurrent counterpart of ‘material entity’. Those natural – as contrasted with engineered, which here means: deliberately executed – units which do exist in the realm of occurrents are typically either parasitic on the existence of natural units on the continuant side, or they are fiat in nature. Thus we can count lives; we can count football games; we can count chemical reactions performed in experiments or in chemical manufacturing. We cannot count the processes taking place, for instance, in an episode of insect mating behavior.Even where natural units are identifiable, for example cycles in a cyclical process such as the beating of a heart or an organism’s sleep/wake cycle, the processes in question form a sequence with no discontinuities (temporal gaps) of the sort that we find for instance where billiard balls or zebrafish or planets are separated by clear spatial gaps. Lives of organisms are process units, but they too unfold in a continuous series from other, prior processes such as fertilization, and they unfold in turn in continuous series of post-life processes such as post-mortem decay. Clear examples of boundaries of processes are almost always of the fiat sort (midnight, a time of death as declared in an operating theater or on a death certificate, the initiation of a state of war) (iff (Process a) (and (Occurrent a) (exists (b) (properTemporalPartOf b a)) (exists (c t) (and (MaterialEntity c) (specificallyDependsOnAt a c t))))) // axiom label in BFO2 CLIF: [083-003] process p is a process = Def. p is an occurrent that has temporal proper parts and for some time t, p s-depends_on some material entity at t. (axiom label in BFO2 Reference: [083-003]) (iff (Process a) (and (Occurrent a) (exists (b) (properTemporalPartOf b a)) (exists (c t) (and (MaterialEntity c) (specificallyDependsOnAt a c t))))) // axiom label in BFO2 CLIF: [083-003] disposition Disposition an atom of element X has the disposition to decay to an atom of element Y certain people have a predisposition to colon cancer children are innately disposed to categorize objects in certain ways. the cell wall is disposed to filter chemicals in endocytosis and exocytosis BFO 2 Reference: Dispositions exist along a strength continuum. Weaker forms of disposition are realized in only a fraction of triggering cases. These forms occur in a significant number of cases of a similar type. b is a disposition means: b is a realizable entity & b’s bearer is some material entity & b is such that if it ceases to exist, then its bearer is physically changed, & b’s realization occurs when and because this bearer is in some special physical circumstances, & this realization occurs in virtue of the bearer’s physical make-up. (axiom label in BFO2 Reference: [062-002]) If b is a realizable entity then for all t at which b exists, b s-depends_on some material entity at t. (axiom label in BFO2 Reference: [063-002]) (forall (x t) (if (and (RealizableEntity x) (existsAt x t)) (exists (y) (and (MaterialEntity y) (specificallyDepends x y t))))) // axiom label in BFO2 CLIF: [063-002] (forall (x) (if (Disposition x) (and (RealizableEntity x) (exists (y) (and (MaterialEntity y) (bearerOfAt x y t)))))) // axiom label in BFO2 CLIF: [062-002] disposition b is a disposition means: b is a realizable entity & b’s bearer is some material entity & b is such that if it ceases to exist, then its bearer is physically changed, & b’s realization occurs when and because this bearer is in some special physical circumstances, & this realization occurs in virtue of the bearer’s physical make-up. (axiom label in BFO2 Reference: [062-002]) If b is a realizable entity then for all t at which b exists, b s-depends_on some material entity at t. (axiom label in BFO2 Reference: [063-002]) (forall (x t) (if (and (RealizableEntity x) (existsAt x t)) (exists (y) (and (MaterialEntity y) (specificallyDepends x y t))))) // axiom label in BFO2 CLIF: [063-002] (forall (x) (if (Disposition x) (and (RealizableEntity x) (exists (y) (and (MaterialEntity y) (bearerOfAt x y t)))))) // axiom label in BFO2 CLIF: [062-002] realizable RealizableEntity the disposition of this piece of metal to conduct electricity. the disposition of your blood to coagulate the function of your reproductive organs the role of being a doctor the role of this boundary to delineate where Utah and Colorado meet To say that b is a realizable entity is to say that b is a specifically dependent continuant that inheres in some independent continuant which is not a spatial region and is of a type instances of which are realized in processes of a correlated type. (axiom label in BFO2 Reference: [058-002]) All realizable dependent continuants have independent continuants that are not spatial regions as their bearers. (axiom label in BFO2 Reference: [060-002]) (forall (x t) (if (RealizableEntity x) (exists (y) (and (IndependentContinuant y) (not (SpatialRegion y)) (bearerOfAt y x t))))) // axiom label in BFO2 CLIF: [060-002] (forall (x) (if (RealizableEntity x) (and (SpecificallyDependentContinuant x) (exists (y) (and (IndependentContinuant y) (not (SpatialRegion y)) (inheresIn x y)))))) // axiom label in BFO2 CLIF: [058-002] realizable entity To say that b is a realizable entity is to say that b is a specifically dependent continuant that inheres in some independent continuant which is not a spatial region and is of a type instances of which are realized in processes of a correlated type. (axiom label in BFO2 Reference: [058-002]) All realizable dependent continuants have independent continuants that are not spatial regions as their bearers. (axiom label in BFO2 Reference: [060-002]) (forall (x t) (if (RealizableEntity x) (exists (y) (and (IndependentContinuant y) (not (SpatialRegion y)) (bearerOfAt y x t))))) // axiom label in BFO2 CLIF: [060-002] (forall (x) (if (RealizableEntity x) (and (SpecificallyDependentContinuant x) (exists (y) (and (IndependentContinuant y) (not (SpatialRegion y)) (inheresIn x y)))))) // axiom label in BFO2 CLIF: [058-002] 0d-s-region ZeroDimensionalSpatialRegion A zero-dimensional spatial region is a point in space. (axiom label in BFO2 Reference: [037-001]) (forall (x) (if (ZeroDimensionalSpatialRegion x) (SpatialRegion x))) // axiom label in BFO2 CLIF: [037-001] zero-dimensional spatial region A zero-dimensional spatial region is a point in space. (axiom label in BFO2 Reference: [037-001]) (forall (x) (if (ZeroDimensionalSpatialRegion x) (SpatialRegion x))) // axiom label in BFO2 CLIF: [037-001] quality Quality the ambient temperature of this portion of air the color of a tomato the length of the circumference of your waist the mass of this piece of gold. the shape of your nose the shape of your nostril a quality is a specifically dependent continuant that, in contrast to roles and dispositions, does not require any further process in order to be realized. (axiom label in BFO2 Reference: [055-001]) If an entity is a quality at any time that it exists, then it is a quality at every time that it exists. (axiom label in BFO2 Reference: [105-001]) (forall (x) (if (Quality x) (SpecificallyDependentContinuant x))) // axiom label in BFO2 CLIF: [055-001] (forall (x) (if (exists (t) (and (existsAt x t) (Quality x))) (forall (t_1) (if (existsAt x t_1) (Quality x))))) // axiom label in BFO2 CLIF: [105-001] quality a quality is a specifically dependent continuant that, in contrast to roles and dispositions, does not require any further process in order to be realized. (axiom label in BFO2 Reference: [055-001]) If an entity is a quality at any time that it exists, then it is a quality at every time that it exists. (axiom label in BFO2 Reference: [105-001]) (forall (x) (if (Quality x) (SpecificallyDependentContinuant x))) // axiom label in BFO2 CLIF: [055-001] (forall (x) (if (exists (t) (and (existsAt x t) (Quality x))) (forall (t_1) (if (existsAt x t_1) (Quality x))))) // axiom label in BFO2 CLIF: [105-001] sdc SpecificallyDependentContinuant Reciprocal specifically dependent continuants: the function of this key to open this lock and the mutually dependent disposition of this lock: to be opened by this key of one-sided specifically dependent continuants: the mass of this tomato of relational dependent continuants (multiple bearers): John’s love for Mary, the ownership relation between John and this statue, the relation of authority between John and his subordinates. the disposition of this fish to decay the function of this heart: to pump blood the mutual dependence of proton donors and acceptors in chemical reactions [79 the mutual dependence of the role predator and the role prey as played by two organisms in a given interaction the pink color of a medium rare piece of grilled filet mignon at its center the role of being a doctor the shape of this hole. the smell of this portion of mozzarella A continuant that inheres in or is borne by other entities. Every instance of A requires some specific instance of B which must always be the same. b is a specifically dependent continuant = Def. b is a continuant & there is some independent continuant c which is not a spatial region and which is such that b s-depends_on c at every time t during the course of b’s existence. (axiom label in BFO2 Reference: [050-003]) Specifically dependent continuant doesn't have a closure axiom because the subclasses don't necessarily exhaust all possibilites. We're not sure what else will develop here, but for example there are questions such as what are promises, obligation, etc. (iff (SpecificallyDependentContinuant a) (and (Continuant a) (forall (t) (if (existsAt a t) (exists (b) (and (IndependentContinuant b) (not (SpatialRegion b)) (specificallyDependsOnAt a b t))))))) // axiom label in BFO2 CLIF: [050-003] specifically dependent continuant b is a specifically dependent continuant = Def. b is a continuant & there is some independent continuant c which is not a spatial region and which is such that b s-depends_on c at every time t during the course of b’s existence. (axiom label in BFO2 Reference: [050-003]) Specifically dependent continuant doesn't have a closure axiom because the subclasses don't necessarily exhaust all possibilites. We're not sure what else will develop here, but for example there are questions such as what are promises, obligation, etc. per discussion with Barry Smith (iff (SpecificallyDependentContinuant a) (and (Continuant a) (forall (t) (if (existsAt a t) (exists (b) (and (IndependentContinuant b) (not (SpatialRegion b)) (specificallyDependsOnAt a b t))))))) // axiom label in BFO2 CLIF: [050-003] role Role John’s role of husband to Mary is dependent on Mary’s role of wife to John, and both are dependent on the object aggregate comprising John and Mary as member parts joined together through the relational quality of being married. the priest role the role of a boundary to demarcate two neighboring administrative territories the role of a building in serving as a military target the role of a stone in marking a property boundary the role of subject in a clinical trial the student role BFO 2 Reference: One major family of examples of non-rigid universals involves roles, and ontologies developed for corresponding administrative purposes may consist entirely of representatives of entities of this sort. Thus ‘professor’, defined as follows,b instance_of professor at t =Def. there is some c, c instance_of professor role & c inheres_in b at t.denotes a non-rigid universal and so also do ‘nurse’, ‘student’, ‘colonel’, ‘taxpayer’, and so forth. (These terms are all, in the jargon of philosophy, phase sortals.) By using role terms in definitions, we can create a BFO conformant treatment of such entities drawing on the fact that, while an instance of professor may be simultaneously an instance of trade union member, no instance of the type professor role is also (at any time) an instance of the type trade union member role (any more than any instance of the type color is at any time an instance of the type length).If an ontology of employment positions should be defined in terms of roles following the above pattern, this enables the ontology to do justice to the fact that individuals instantiate the corresponding universals – professor, sergeant, nurse – only during certain phases in their lives. b is a role means: b is a realizable entity & b exists because there is some single bearer that is in some special physical, social, or institutional set of circumstances in which this bearer does not have to be& b is not such that, if it ceases to exist, then the physical make-up of the bearer is thereby changed. (axiom label in BFO2 Reference: [061-001]) (forall (x) (if (Role x) (RealizableEntity x))) // axiom label in BFO2 CLIF: [061-001] role b is a role means: b is a realizable entity & b exists because there is some single bearer that is in some special physical, social, or institutional set of circumstances in which this bearer does not have to be& b is not such that, if it ceases to exist, then the physical make-up of the bearer is thereby changed. (axiom label in BFO2 Reference: [061-001]) (forall (x) (if (Role x) (RealizableEntity x))) // axiom label in BFO2 CLIF: [061-001] fiat-object-part FiatObjectPart or with divisions drawn by cognitive subjects for practical reasons, such as the division of a cake (before slicing) into (what will become) slices (and thus member parts of an object aggregate). However, this does not mean that fiat object parts are dependent for their existence on divisions or delineations effected by cognitive subjects. If, for example, it is correct to conceive geological layers of the Earth as fiat object parts of the Earth, then even though these layers were first delineated in recent times, still existed long before such delineation and what holds of these layers (for example that the oldest layers are also the lowest layers) did not begin to hold because of our acts of delineation.Treatment of material entity in BFOExamples viewed by some as problematic cases for the trichotomy of fiat object part, object, and object aggregate include: a mussel on (and attached to) a rock, a slime mold, a pizza, a cloud, a galaxy, a railway train with engine and multiple carriages, a clonal stand of quaking aspen, a bacterial community (biofilm), a broken femur. Note that, as Aristotle already clearly recognized, such problematic cases – which lie at or near the penumbra of instances defined by the categories in question – need not invalidate these categories. The existence of grey objects does not prove that there are not objects which are black and objects which are white; the existence of mules does not prove that there are not objects which are donkeys and objects which are horses. It does, however, show that the examples in question need to be addressed carefully in order to show how they can be fitted into the proposed scheme, for example by recognizing additional subdivisions [29 the FMA:regional parts of an intact human body. the Western hemisphere of the Earth the division of the brain into regions the division of the planet into hemispheres the dorsal and ventral surfaces of the body the upper and lower lobes of the left lung BFO 2 Reference: Most examples of fiat object parts are associated with theoretically drawn divisions b is a fiat object part = Def. b is a material entity which is such that for all times t, if b exists at t then there is some object c such that b proper continuant_part of c at t and c is demarcated from the remainder of c by a two-dimensional continuant fiat boundary. (axiom label in BFO2 Reference: [027-004]) (forall (x) (if (FiatObjectPart x) (and (MaterialEntity x) (forall (t) (if (existsAt x t) (exists (y) (and (Object y) (properContinuantPartOfAt x y t)))))))) // axiom label in BFO2 CLIF: [027-004] fiat object part b is a fiat object part = Def. b is a material entity which is such that for all times t, if b exists at t then there is some object c such that b proper continuant_part of c at t and c is demarcated from the remainder of c by a two-dimensional continuant fiat boundary. (axiom label in BFO2 Reference: [027-004]) (forall (x) (if (FiatObjectPart x) (and (MaterialEntity x) (forall (t) (if (existsAt x t) (exists (y) (and (Object y) (properContinuantPartOfAt x y t)))))))) // axiom label in BFO2 CLIF: [027-004] 1d-s-region OneDimensionalSpatialRegion an edge of a cube-shaped portion of space. A one-dimensional spatial region is a line or aggregate of lines stretching from one point in space to another. (axiom label in BFO2 Reference: [038-001]) (forall (x) (if (OneDimensionalSpatialRegion x) (SpatialRegion x))) // axiom label in BFO2 CLIF: [038-001] one-dimensional spatial region A one-dimensional spatial region is a line or aggregate of lines stretching from one point in space to another. (axiom label in BFO2 Reference: [038-001]) (forall (x) (if (OneDimensionalSpatialRegion x) (SpatialRegion x))) // axiom label in BFO2 CLIF: [038-001] object-aggregate ObjectAggregate a collection of cells in a blood biobank. a swarm of bees is an aggregate of members who are linked together through natural bonds a symphony orchestra an organization is an aggregate whose member parts have roles of specific types (for example in a jazz band, a chess club, a football team) defined by fiat: the aggregate of members of an organization defined through physical attachment: the aggregate of atoms in a lump of granite defined through physical containment: the aggregate of molecules of carbon dioxide in a sealed container defined via attributive delimitations such as: the patients in this hospital the aggregate of bearings in a constant velocity axle joint the aggregate of blood cells in your body the nitrogen atoms in the atmosphere the restaurants in Palo Alto your collection of Meissen ceramic plates. An entity a is an object aggregate if and only if there is a mutually exhaustive and pairwise disjoint partition of a into objects BFO 2 Reference: object aggregates may gain and lose parts while remaining numerically identical (one and the same individual) over time. This holds both for aggregates whose membership is determined naturally (the aggregate of cells in your body) and aggregates determined by fiat (a baseball team, a congressional committee). ISBN:978-3-938793-98-5pp124-158#Thomas Bittner and Barry Smith, 'A Theory of Granular Partitions', in K. Munn and B. Smith (eds.), Applied Ontology: An Introduction, Frankfurt/Lancaster: ontos, 2008, 125-158. b is an object aggregate means: b is a material entity consisting exactly of a plurality of objects as member_parts at all times at which b exists. (axiom label in BFO2 Reference: [025-004]) (forall (x) (if (ObjectAggregate x) (and (MaterialEntity x) (forall (t) (if (existsAt x t) (exists (y z) (and (Object y) (Object z) (memberPartOfAt y x t) (memberPartOfAt z x t) (not (= y z)))))) (not (exists (w t_1) (and (memberPartOfAt w x t_1) (not (Object w)))))))) // axiom label in BFO2 CLIF: [025-004] object aggregate An entity a is an object aggregate if and only if there is a mutually exhaustive and pairwise disjoint partition of a into objects An entity a is an object aggregate if and only if there is a mutually exhaustive and pairwise disjoint partition of a into objects An entity a is an object aggregate if and only if there is a mutually exhaustive and pairwise disjoint partition of a into objects ISBN:978-3-938793-98-5pp124-158#Thomas Bittner and Barry Smith, 'A Theory of Granular Partitions', in K. Munn and B. Smith (eds.), Applied Ontology: An Introduction, Frankfurt/Lancaster: ontos, 2008, 125-158. b is an object aggregate means: b is a material entity consisting exactly of a plurality of objects as member_parts at all times at which b exists. (axiom label in BFO2 Reference: [025-004]) (forall (x) (if (ObjectAggregate x) (and (MaterialEntity x) (forall (t) (if (existsAt x t) (exists (y z) (and (Object y) (Object z) (memberPartOfAt y x t) (memberPartOfAt z x t) (not (= y z)))))) (not (exists (w t_1) (and (memberPartOfAt w x t_1) (not (Object w)))))))) // axiom label in BFO2 CLIF: [025-004] 3d-s-region ThreeDimensionalSpatialRegion a cube-shaped region of space a sphere-shaped region of space, A three-dimensional spatial region is a spatial region that is of three dimensions. (axiom label in BFO2 Reference: [040-001]) (forall (x) (if (ThreeDimensionalSpatialRegion x) (SpatialRegion x))) // axiom label in BFO2 CLIF: [040-001] three-dimensional spatial region A three-dimensional spatial region is a spatial region that is of three dimensions. (axiom label in BFO2 Reference: [040-001]) (forall (x) (if (ThreeDimensionalSpatialRegion x) (SpatialRegion x))) // axiom label in BFO2 CLIF: [040-001] site Site Manhattan Canyon) a hole in the interior of a portion of cheese a rabbit hole an air traffic control region defined in the airspace above an airport the Grand Canyon the Piazza San Marco the cockpit of an aircraft the hold of a ship the interior of a kangaroo pouch the interior of the trunk of your car the interior of your bedroom the interior of your office the interior of your refrigerator the lumen of your gut your left nostril (a fiat part – the opening – of your left nasal cavity) b is a site means: b is a three-dimensional immaterial entity that is (partially or wholly) bounded by a material entity or it is a three-dimensional immaterial part thereof. (axiom label in BFO2 Reference: [034-002]) (forall (x) (if (Site x) (ImmaterialEntity x))) // axiom label in BFO2 CLIF: [034-002] site b is a site means: b is a three-dimensional immaterial entity that is (partially or wholly) bounded by a material entity or it is a three-dimensional immaterial part thereof. (axiom label in BFO2 Reference: [034-002]) (forall (x) (if (Site x) (ImmaterialEntity x))) // axiom label in BFO2 CLIF: [034-002] object Object atom cell cells and organisms engineered artifacts grain of sand molecule organelle organism planet solid portions of matter star BFO 2 Reference: BFO rests on the presupposition that at multiple micro-, meso- and macroscopic scales reality exhibits certain stable, spatially separated or separable material units, combined or combinable into aggregates of various sorts (for example organisms into what are called ‘populations’). Such units play a central role in almost all domains of natural science from particle physics to cosmology. Many scientific laws govern the units in question, employing general terms (such as ‘molecule’ or ‘planet’) referring to the types and subtypes of units, and also to the types and subtypes of the processes through which such units develop and interact. The division of reality into such natural units is at the heart of biological science, as also is the fact that these units may form higher-level units (as cells form multicellular organisms) and that they may also form aggregates of units, for example as cells form portions of tissue and organs form families, herds, breeds, species, and so on. At the same time, the division of certain portions of reality into engineered units (manufactured artifacts) is the basis of modern industrial technology, which rests on the distributed mass production of engineered parts through division of labor and on their assembly into larger, compound units such as cars and laptops. The division of portions of reality into units is one starting point for the phenomenon of counting. BFO 2 Reference: Each object is such that there are entities of which we can assert unproblematically that they lie in its interior, and other entities of which we can assert unproblematically that they lie in its exterior. This may not be so for entities lying at or near the boundary between the interior and exterior. This means that two objects – for example the two cells depicted in Figure 3 – may be such that there are material entities crossing their boundaries which belong determinately to neither cell. Something similar obtains in certain cases of conjoined twins (see below). BFO 2 Reference: To say that b is causally unified means: b is a material entity which is such that its material parts are tied together in such a way that, in environments typical for entities of the type in question,if c, a continuant part of b that is in the interior of b at t, is larger than a certain threshold size (which will be determined differently from case to case, depending on factors such as porosity of external cover) and is moved in space to be at t at a location on the exterior of the spatial region that had been occupied by b at t, then either b’s other parts will be moved in coordinated fashion or b will be damaged (be affected, for example, by breakage or tearing) in the interval between t and t.causal changes in one part of b can have consequences for other parts of b without the mediation of any entity that lies on the exterior of b. Material entities with no proper material parts would satisfy these conditions trivially. Candidate examples of types of causal unity for material entities of more complex sorts are as follows (this is not intended to be an exhaustive list):CU1: Causal unity via physical coveringHere the parts in the interior of the unified entity are combined together causally through a common membrane or other physical covering\. The latter points outwards toward and may serve a protective function in relation to what lies on the exterior of the entity [13, 47 BFO 2 Reference: an object is a maximal causally unified material entity BFO 2 Reference: ‘objects’ are sometimes referred to as ‘grains’ [74 b is an object means: b is a material entity which manifests causal unity of one or other of the types CUn listed above & is of a type (a material universal) instances of which are maximal relative to this criterion of causal unity. (axiom label in BFO2 Reference: [024-001]) object b is an object means: b is a material entity which manifests causal unity of one or other of the types CUn listed above & is of a type (a material universal) instances of which are maximal relative to this criterion of causal unity. (axiom label in BFO2 Reference: [024-001]) gdc GenericallyDependentContinuant The entries in your database are patterns instantiated as quality instances in your hard drive. The database itself is an aggregate of such patterns. When you create the database you create a particular instance of the generically dependent continuant type database. Each entry in the database is an instance of the generically dependent continuant type IAO: information content entity. the pdf file on your laptop, the pdf file that is a copy thereof on my laptop the sequence of this protein molecule; the sequence that is a copy thereof in that protein molecule. b is a generically dependent continuant = Def. b is a continuant that g-depends_on one or more other entities. (axiom label in BFO2 Reference: [074-001]) (iff (GenericallyDependentContinuant a) (and (Continuant a) (exists (b t) (genericallyDependsOnAt a b t)))) // axiom label in BFO2 CLIF: [074-001] generically dependent continuant b is a generically dependent continuant = Def. b is a continuant that g-depends_on one or more other entities. (axiom label in BFO2 Reference: [074-001]) (iff (GenericallyDependentContinuant a) (and (Continuant a) (exists (b t) (genericallyDependsOnAt a b t)))) // axiom label in BFO2 CLIF: [074-001] function Function the function of a hammer to drive in nails the function of a heart pacemaker to regulate the beating of a heart through electricity the function of amylase in saliva to break down starch into sugar BFO 2 Reference: In the past, we have distinguished two varieties of function, artifactual function and biological function. These are not asserted subtypes of BFO:function however, since the same function – for example: to pump, to transport – can exist both in artifacts and in biological entities. The asserted subtypes of function that would be needed in order to yield a separate monoheirarchy are not artifactual function, biological function, etc., but rather transporting function, pumping function, etc. A function is a disposition that exists in virtue of the bearer’s physical make-up and this physical make-up is something the bearer possesses because it came into being, either through evolution (in the case of natural biological entities) or through intentional design (in the case of artifacts), in order to realize processes of a certain sort. (axiom label in BFO2 Reference: [064-001]) (forall (x) (if (Function x) (Disposition x))) // axiom label in BFO2 CLIF: [064-001] function A function is a disposition that exists in virtue of the bearer’s physical make-up and this physical make-up is something the bearer possesses because it came into being, either through evolution (in the case of natural biological entities) or through intentional design (in the case of artifacts), in order to realize processes of a certain sort. (axiom label in BFO2 Reference: [064-001]) (forall (x) (if (Function x) (Disposition x))) // axiom label in BFO2 CLIF: [064-001] p-boundary ProcessBoundary the boundary between the 2nd and 3rd year of your life. p is a process boundary =Def. p is a temporal part of a process & p has no proper temporal parts. (axiom label in BFO2 Reference: [084-001]) Every process boundary occupies_temporal_region a zero-dimensional temporal region. (axiom label in BFO2 Reference: [085-002]) (forall (x) (if (ProcessBoundary x) (exists (y) (and (ZeroDimensionalTemporalRegion y) (occupiesTemporalRegion x y))))) // axiom label in BFO2 CLIF: [085-002] (iff (ProcessBoundary a) (exists (p) (and (Process p) (temporalPartOf a p) (not (exists (b) (properTemporalPartOf b a)))))) // axiom label in BFO2 CLIF: [084-001] process boundary p is a process boundary =Def. p is a temporal part of a process & p has no proper temporal parts. (axiom label in BFO2 Reference: [084-001]) Every process boundary occupies_temporal_region a zero-dimensional temporal region. (axiom label in BFO2 Reference: [085-002]) (forall (x) (if (ProcessBoundary x) (exists (y) (and (ZeroDimensionalTemporalRegion y) (occupiesTemporalRegion x y))))) // axiom label in BFO2 CLIF: [085-002] (iff (ProcessBoundary a) (exists (p) (and (Process p) (temporalPartOf a p) (not (exists (b) (properTemporalPartOf b a)))))) // axiom label in BFO2 CLIF: [084-001] 1d-t-region OneDimensionalTemporalRegion the temporal region during which a process occurs. BFO 2 Reference: A temporal interval is a special kind of one-dimensional temporal region, namely one that is self-connected (is without gaps or breaks). A one-dimensional temporal region is a temporal region that is extended. (axiom label in BFO2 Reference: [103-001]) (forall (x) (if (OneDimensionalTemporalRegion x) (TemporalRegion x))) // axiom label in BFO2 CLIF: [103-001] one-dimensional temporal region A one-dimensional temporal region is a temporal region that is extended. (axiom label in BFO2 Reference: [103-001]) (forall (x) (if (OneDimensionalTemporalRegion x) (TemporalRegion x))) // axiom label in BFO2 CLIF: [103-001] material MaterialEntity a flame a forest fire a human being a hurricane a photon a puff of smoke a sea wave a tornado an aggregate of human beings. an energy wave an epidemic the undetached arm of a human being BFO 2 Reference: Material entities (continuants) can preserve their identity even while gaining and losing material parts. Continuants are contrasted with occurrents, which unfold themselves in successive temporal parts or phases [60 BFO 2 Reference: Object, Fiat Object Part and Object Aggregate are not intended to be exhaustive of Material Entity. Users are invited to propose new subcategories of Material Entity. BFO 2 Reference: ‘Matter’ is intended to encompass both mass and energy (we will address the ontological treatment of portions of energy in a later version of BFO). A portion of matter is anything that includes elementary particles among its proper or improper parts: quarks and leptons, including electrons, as the smallest particles thus far discovered; baryons (including protons and neutrons) at a higher level of granularity; atoms and molecules at still higher levels, forming the cells, organs, organisms and other material entities studied by biologists, the portions of rock studied by geologists, the fossils studied by paleontologists, and so on.Material entities are three-dimensional entities (entities extended in three spatial dimensions), as contrasted with the processes in which they participate, which are four-dimensional entities (entities extended also along the dimension of time).According to the FMA, material entities may have immaterial entities as parts – including the entities identified below as sites; for example the interior (or ‘lumen’) of your small intestine is a part of your body. BFO 2.0 embodies a decision to follow the FMA here. A material entity is an independent continuant that has some portion of matter as proper or improper continuant part. (axiom label in BFO2 Reference: [019-002]) Every entity which has a material entity as continuant part is a material entity. (axiom label in BFO2 Reference: [020-002]) every entity of which a material entity is continuant part is also a material entity. (axiom label in BFO2 Reference: [021-002]) (forall (x) (if (MaterialEntity x) (IndependentContinuant x))) // axiom label in BFO2 CLIF: [019-002] (forall (x) (if (and (Entity x) (exists (y t) (and (MaterialEntity y) (continuantPartOfAt x y t)))) (MaterialEntity x))) // axiom label in BFO2 CLIF: [021-002] (forall (x) (if (and (Entity x) (exists (y t) (and (MaterialEntity y) (continuantPartOfAt y x t)))) (MaterialEntity x))) // axiom label in BFO2 CLIF: [020-002] material entity A material entity is an independent continuant that has some portion of matter as proper or improper continuant part. (axiom label in BFO2 Reference: [019-002]) Every entity which has a material entity as continuant part is a material entity. (axiom label in BFO2 Reference: [020-002]) every entity of which a material entity is continuant part is also a material entity. (axiom label in BFO2 Reference: [021-002]) (forall (x) (if (MaterialEntity x) (IndependentContinuant x))) // axiom label in BFO2 CLIF: [019-002] (forall (x) (if (and (Entity x) (exists (y t) (and (MaterialEntity y) (continuantPartOfAt x y t)))) (MaterialEntity x))) // axiom label in BFO2 CLIF: [021-002] (forall (x) (if (and (Entity x) (exists (y t) (and (MaterialEntity y) (continuantPartOfAt y x t)))) (MaterialEntity x))) // axiom label in BFO2 CLIF: [020-002] cf-boundary ContinuantFiatBoundary b is a continuant fiat boundary = Def. b is an immaterial entity that is of zero, one or two dimensions and does not include a spatial region as part. (axiom label in BFO2 Reference: [029-001]) BFO 2 Reference: In BFO 1.1 the assumption was made that the external surface of a material entity such as a cell could be treated as if it were a boundary in the mathematical sense. The new document propounds the view that when we talk about external surfaces of material objects in this way then we are talking about something fiat. To be dealt with in a future version: fiat boundaries at different levels of granularity.More generally, the focus in discussion of boundaries in BFO 2.0 is now on fiat boundaries, which means: boundaries for which there is no assumption that they coincide with physical discontinuities. The ontology of boundaries becomes more closely allied with the ontology of regions. BFO 2 Reference: a continuant fiat boundary is a boundary of some material entity (for example: the plane separating the Northern and Southern hemispheres; the North Pole), or it is a boundary of some immaterial entity (for example of some portion of airspace). Three basic kinds of continuant fiat boundary can be distinguished (together with various combination kinds [29 Continuant fiat boundary doesn't have a closure axiom because the subclasses don't necessarily exhaust all possibilites. An example would be the mereological sum of two-dimensional continuant fiat boundary and a one dimensional continuant fiat boundary that doesn't overlap it. The situation is analogous to temporal and spatial regions. Every continuant fiat boundary is located at some spatial region at every time at which it exists (iff (ContinuantFiatBoundary a) (and (ImmaterialEntity a) (exists (b) (and (or (ZeroDimensionalSpatialRegion b) (OneDimensionalSpatialRegion b) (TwoDimensionalSpatialRegion b)) (forall (t) (locatedInAt a b t)))) (not (exists (c t) (and (SpatialRegion c) (continuantPartOfAt c a t)))))) // axiom label in BFO2 CLIF: [029-001] continuant fiat boundary Continuant fiat boundary doesn't have a closure axiom because the subclasses don't necessarily exhaust all possibilites. An example would be the mereological sum of two-dimensional continuant fiat boundary and a one dimensional continuant fiat boundary that doesn't overlap it. The situation is analogous to temporal and spatial regions. (iff (ContinuantFiatBoundary a) (and (ImmaterialEntity a) (exists (b) (and (or (ZeroDimensionalSpatialRegion b) (OneDimensionalSpatialRegion b) (TwoDimensionalSpatialRegion b)) (forall (t) (locatedInAt a b t)))) (not (exists (c t) (and (SpatialRegion c) (continuantPartOfAt c a t)))))) // axiom label in BFO2 CLIF: [029-001] b is a continuant fiat boundary = Def. b is an immaterial entity that is of zero, one or two dimensions and does not include a spatial region as part. (axiom label in BFO2 Reference: [029-001]) immaterial ImmaterialEntity BFO 2 Reference: Immaterial entities are divided into two subgroups:boundaries and sites, which bound, or are demarcated in relation, to material entities, and which can thus change location, shape and size and as their material hosts move or change shape or size (for example: your nasal passage; the hold of a ship; the boundary of Wales (which moves with the rotation of the Earth) [38, 7, 10 immaterial entity 1d-cf-boundary OneDimensionalContinuantFiatBoundary The Equator all geopolitical boundaries all lines of latitude and longitude the line separating the outer surface of the mucosa of the lower lip from the outer surface of the skin of the chin. the median sulcus of your tongue a one-dimensional continuant fiat boundary is a continuous fiat line whose location is defined in relation to some material entity. (axiom label in BFO2 Reference: [032-001]) (iff (OneDimensionalContinuantFiatBoundary a) (and (ContinuantFiatBoundary a) (exists (b) (and (OneDimensionalSpatialRegion b) (forall (t) (locatedInAt a b t)))))) // axiom label in BFO2 CLIF: [032-001] one-dimensional continuant fiat boundary a one-dimensional continuant fiat boundary is a continuous fiat line whose location is defined in relation to some material entity. (axiom label in BFO2 Reference: [032-001]) (iff (OneDimensionalContinuantFiatBoundary a) (and (ContinuantFiatBoundary a) (exists (b) (and (OneDimensionalSpatialRegion b) (forall (t) (locatedInAt a b t)))))) // axiom label in BFO2 CLIF: [032-001] process-profile ProcessProfile On a somewhat higher level of complexity are what we shall call rate process profiles, which are the targets of selective abstraction focused not on determinate quality magnitudes plotted over time, but rather on certain ratios between these magnitudes and elapsed times. A speed process profile, for example, is represented by a graph plotting against time the ratio of distance covered per unit of time. Since rates may change, and since such changes, too, may have rates of change, we have to deal here with a hierarchy of process profile universals at successive levels One important sub-family of rate process profiles is illustrated by the beat or frequency profiles of cyclical processes, illustrated by the 60 beats per minute beating process of John’s heart, or the 120 beats per minute drumming process involved in one of John’s performances in a rock band, and so on. Each such process includes what we shall call a beat process profile instance as part, a subtype of rate process profile in which the salient ratio is not distance covered but rather number of beat cycles per unit of time. Each beat process profile instance instantiates the determinable universal beat process profile. But it also instantiates multiple more specialized universals at lower levels of generality, selected from rate process profilebeat process profileregular beat process profile3 bpm beat process profile4 bpm beat process profileirregular beat process profileincreasing beat process profileand so on.In the case of a regular beat process profile, a rate can be assigned in the simplest possible fashion by dividing the number of cycles by the length of the temporal region occupied by the beating process profile as a whole. Irregular process profiles of this sort, for example as identified in the clinic, or in the readings on an aircraft instrument panel, are often of diagnostic significance. The simplest type of process profiles are what we shall call ‘quality process profiles’, which are the process profiles which serve as the foci of the sort of selective abstraction that is involved when measurements are made of changes in single qualities, as illustrated, for example, by process profiles of mass, temperature, aortic pressure, and so on. b is a process_profile =Def. there is some process c such that b process_profile_of c (axiom label in BFO2 Reference: [093-002]) b process_profile_of c holds when b proper_occurrent_part_of c& there is some proper_occurrent_part d of c which has no parts in common with b & is mutually dependent on b& is such that b, c and d occupy the same temporal region (axiom label in BFO2 Reference: [094-005]) (forall (x y) (if (processProfileOf x y) (and (properContinuantPartOf x y) (exists (z t) (and (properOccurrentPartOf z y) (TemporalRegion t) (occupiesSpatioTemporalRegion x t) (occupiesSpatioTemporalRegion y t) (occupiesSpatioTemporalRegion z t) (not (exists (w) (and (occurrentPartOf w x) (occurrentPartOf w z))))))))) // axiom label in BFO2 CLIF: [094-005] (iff (ProcessProfile a) (exists (b) (and (Process b) (processProfileOf a b)))) // axiom label in BFO2 CLIF: [093-002] process profile b is a process_profile =Def. there is some process c such that b process_profile_of c (axiom label in BFO2 Reference: [093-002]) b process_profile_of c holds when b proper_occurrent_part_of c& there is some proper_occurrent_part d of c which has no parts in common with b & is mutually dependent on b& is such that b, c and d occupy the same temporal region (axiom label in BFO2 Reference: [094-005]) (forall (x y) (if (processProfileOf x y) (and (properContinuantPartOf x y) (exists (z t) (and (properOccurrentPartOf z y) (TemporalRegion t) (occupiesSpatioTemporalRegion x t) (occupiesSpatioTemporalRegion y t) (occupiesSpatioTemporalRegion z t) (not (exists (w) (and (occurrentPartOf w x) (occurrentPartOf w z))))))))) // axiom label in BFO2 CLIF: [094-005] (iff (ProcessProfile a) (exists (b) (and (Process b) (processProfileOf a b)))) // axiom label in BFO2 CLIF: [093-002] r-quality RelationalQuality John’s role of husband to Mary is dependent on Mary’s role of wife to John, and both are dependent on the object aggregate comprising John and Mary as member parts joined together through the relational quality of being married. a marriage bond, an instance of requited love, an obligation between one person and another. b is a relational quality = Def. for some independent continuants c, d and for some time t: b quality_of c at t & b quality_of d at t. (axiom label in BFO2 Reference: [057-001]) (iff (RelationalQuality a) (exists (b c t) (and (IndependentContinuant b) (IndependentContinuant c) (qualityOfAt a b t) (qualityOfAt a c t)))) // axiom label in BFO2 CLIF: [057-001] relational quality b is a relational quality = Def. for some independent continuants c, d and for some time t: b quality_of c at t & b quality_of d at t. (axiom label in BFO2 Reference: [057-001]) (iff (RelationalQuality a) (exists (b c t) (and (IndependentContinuant b) (IndependentContinuant c) (qualityOfAt a b t) (qualityOfAt a c t)))) // axiom label in BFO2 CLIF: [057-001] 2d-cf-boundary TwoDimensionalContinuantFiatBoundary a two-dimensional continuant fiat boundary (surface) is a self-connected fiat surface whose location is defined in relation to some material entity. (axiom label in BFO2 Reference: [033-001]) (iff (TwoDimensionalContinuantFiatBoundary a) (and (ContinuantFiatBoundary a) (exists (b) (and (TwoDimensionalSpatialRegion b) (forall (t) (locatedInAt a b t)))))) // axiom label in BFO2 CLIF: [033-001] two-dimensional continuant fiat boundary a two-dimensional continuant fiat boundary (surface) is a self-connected fiat surface whose location is defined in relation to some material entity. (axiom label in BFO2 Reference: [033-001]) (iff (TwoDimensionalContinuantFiatBoundary a) (and (ContinuantFiatBoundary a) (exists (b) (and (TwoDimensionalSpatialRegion b) (forall (t) (locatedInAt a b t)))))) // axiom label in BFO2 CLIF: [033-001] 0d-cf-boundary ZeroDimensionalContinuantFiatBoundary the geographic North Pole the point of origin of some spatial coordinate system. the quadripoint where the boundaries of Colorado, Utah, New Mexico, and Arizona meet zero dimension continuant fiat boundaries are not spatial points. Considering the example 'the quadripoint where the boundaries of Colorado, Utah, New Mexico, and Arizona meet' : There are many frames in which that point is zooming through many points in space. Whereas, no matter what the frame, the quadripoint is always in the same relation to the boundaries of Colorado, Utah, New Mexico, and Arizona. a zero-dimensional continuant fiat boundary is a fiat point whose location is defined in relation to some material entity. (axiom label in BFO2 Reference: [031-001]) (iff (ZeroDimensionalContinuantFiatBoundary a) (and (ContinuantFiatBoundary a) (exists (b) (and (ZeroDimensionalSpatialRegion b) (forall (t) (locatedInAt a b t)))))) // axiom label in BFO2 CLIF: [031-001] zero-dimensional continuant fiat boundary zero dimension continuant fiat boundaries are not spatial points. Considering the example 'the quadripoint where the boundaries of Colorado, Utah, New Mexico, and Arizona meet' : There are many frames in which that point is zooming through many points in space. Whereas, no matter what the frame, the quadripoint is always in the same relation to the boundaries of Colorado, Utah, New Mexico, and Arizona. a zero-dimensional continuant fiat boundary is a fiat point whose location is defined in relation to some material entity. (axiom label in BFO2 Reference: [031-001]) (iff (ZeroDimensionalContinuantFiatBoundary a) (and (ContinuantFiatBoundary a) (exists (b) (and (ZeroDimensionalSpatialRegion b) (forall (t) (locatedInAt a b t)))))) // axiom label in BFO2 CLIF: [031-001] 0d-t-region ZeroDimensionalTemporalRegion a temporal region that is occupied by a process boundary right now the moment at which a child is born the moment at which a finger is detached in an industrial accident the moment of death. temporal instant. A zero-dimensional temporal region is a temporal region that is without extent. (axiom label in BFO2 Reference: [102-001]) (forall (x) (if (ZeroDimensionalTemporalRegion x) (TemporalRegion x))) // axiom label in BFO2 CLIF: [102-001] zero-dimensional temporal region A zero-dimensional temporal region is a temporal region that is without extent. (axiom label in BFO2 Reference: [102-001]) (forall (x) (if (ZeroDimensionalTemporalRegion x) (TemporalRegion x))) // axiom label in BFO2 CLIF: [102-001] history History A history is a process that is the sum of the totality of processes taking place in the spatiotemporal region occupied by a material entity or site, including processes on the surface of the entity or within the cavities to which it serves as host. (axiom label in BFO2 Reference: [138-001]) history A history is a process that is the sum of the totality of processes taking place in the spatiotemporal region occupied by a material entity or site, including processes on the surface of the entity or within the cavities to which it serves as host. (axiom label in BFO2 Reference: [138-001]) MGI:2159768 https://www.ncbi.nlm.nih.gov/pubmed/26254980 mouse DBA/2 inbred strain 小鼠DBA/2近交系 true YH, AD https://en.wikipedia.org/wiki/Embryonic_stem_cell https://en.wikipedia.org/wiki/Induced_pluripotent_stem_cell https://www.ncbi.nlm.nih.gov/pubmed/16904174 A stem cell line cell that is pluripotent and is generated from an adult somatic cell. iPS cell iPSC https://www.ncbi.nlm.nih.gov/pubmed/30233290 induced pluripotent stem cell line cell true A quantitative or qualitative value which is the result of an act of assessing a morphological or physiological state or property in a single individual or sample or a group of individuals or samples, based on direct observation or experimental manipulation. Clinical Evaluation Laboratory test clinical measurement http://www.case.edu/EpSO.owl#ClinicalEvaluation true Any value resulting from the quantification of a morphological or physiological parameter pertaining to the heart and/or blood vessels. cardiovascular measurement The number of contractions of the cardiac ventricles per unit of time. https://www.ncbi.nlm.nih.gov/pubmed/12181003 heart rate true true Measurement of the structure or forms of the entire body or parts of the body of an organism. anthropometric measurement morphometry body morphological measurement A quantification of a parameter of the chemical composition of blood. blood molecular composition measurement blood chemistry measurement https://www.webmd.com/epilepsy/guide/epilepsy-blood-test true The number of white blood cells in a specified volume of blood. leukocyte count white corpuscle count white blood cell count https://www.webmd.com/epilepsy/guide/epilepsy-blood-test true Any measurement involving the amount, composition or type of protein, the complex organic compounds containing carbon, hydrogen, oxygen, nitrogen, and sulfur consisting of alpha-amino acids joined by peptide linkages, in blood. blood protein measurement The number of platelets (thrombocytes) in a specified volume of blood, usually expressed as platelets per cubic millimeter of whole blood. platelet count https://www.epilepsy.com/learn/treating-seizures-and-epilepsy/seizure-and-epilepsy-medicines/blood-testing true A measurement of the blood, it's contents, cells or other factors contained within the blood. blood measurement https://www.webmd.com/epilepsy/guide/epilepsy-blood-test true A value resulting from the quantification of a morphological or physiological parameter of blood cells, i.e. cells native to the circulation, including those of erythroid, lymphoid, myeloid and monocytic lineages. A cell is a membrane-enclosed protoplasmic mass constituting the smallest structural unit of an organism that is capable of independent functioning. blood cell measurement Percentage of total blood volume that is made up of red blood cells. Hct packed cell volume packed red blood cell volume hematocrit https://www.webmd.com/epilepsy/guide/epilepsy-blood-test true A measure of the average volume or size of a single red blood cell. It is derived by dividing the total volume of packed red blood cells by the total red blood cell count. MCV mean corpuscular volume https://www.webmd.com/epilepsy/guide/epilepsy-blood-test true mshimoyama 2009-12-17T10:41:54Z Measurement of the amount of glucose, the monosaccharide sugar, C6H12O6, occurring widely in plant and animal tissues which is one of the three dietary monosaccharides that are absorbed directly into the bloodstream during digestion, is the end product of carbohydrate metabolism, and is the chief source of energy for living organisms, in a specified volume of blood, the fluid that circulates through the heart, arteries, capillaries and veins carrying nutrients and oxygen to the body tissues and metabolites away from them. https://www.ncbi.nlm.nih.gov/pubmed/29110774 blood glucose level https://www.webmd.com/epilepsy/guide/epilepsy-blood-test true A quantification of one or more mineral salts found in the blood in the form of electrically charged ions. blood electrolyte measurement Any quantitation of the catalytic effect exerted by an enzyme in a specified sample of blood. An enzyme is a protein that catalyzes chemical reactions of other substances without itself being destroyed or altered upon completion of the reaction(s). Not4Curation blood enzyme activity level A measurement to assess the morphological or physiological state of the respiratory system or portion of the respiratory system. respiratory system measurement mshimoyama 2011-09-21T11:16:38Z ventilation measurement mshimoyama 2010-06-10T09:12:14Z Morphological measurement of the top most or forward most division of an organism's body usually containing the brain and sense organs. head morphological measurement mshimoyama 2010-06-10T09:12:29Z Total distance around the head of an organism. https://www.ncbi.nlm.nih.gov/pubmed/2384077 head circumference true true mshimoyama 2010-06-17T10:30:36Z Any quantification of a morphological or physiological parameter of one or more cells. A cell is a membrane-enclosed protoplasmic mass constituting the smallest structural unit of an organism that is capable of independent functioning. cell measurement mshimoyama 2010-06-17T11:28:45Z Distance completely around the body in the area between the thorax and hips. In humans, this is commonly at the umbilicus. waist girth https://www.ncbi.nlm.nih.gov/pubmed/25179745 waist circumference true true mshimoyama 2011-09-21T11:30:32Z The number of breaths taken by an organism per unit of time. breathing frequency pulmonary ventilation rate respiratory rate respiration rate true mshimoyama 2010-08-04T10:37:40Z The count of the rhythmic contractions and expansions of an artery due to the surge of blood from the beat of the heart. pulse true mshimoyama 2010-08-04T01:50:13Z abdominal morphological measurement mshimoyama 2011-01-04T02:53:16Z The amount of potassium ions in a specified volume of blood. blood potassium level https://www.webmd.com/epilepsy/guide/epilepsy-blood-test true mshimoyama 2011-01-04T03:13:20Z The amount of calcium ions in a specified volume of blood. blood calcium level https://www.webmd.com/epilepsy/guide/epilepsy-blood-test true mshimoyama 2011-01-05T09:20:32Z A measure of the oxygen carrying pigment of erythrocytes. haemoglobin measurement hemoglobin measurement https://www.webmd.com/epilepsy/guide/epilepsy-blood-test true JSmith 2012-02-15T05:06:19Z This is not the same term as the original "heart measurement". That term is now "heart morphological measurement". heart measurement JSmith 2012-07-12T01:22:42Z Any measurement of platelets, the disk-shaped structures found in the blood of mammals which play a vital role in blood coagulation. Platelets lack nuclei and DNA but contain active enzymes and mitochondria. platelet measurement https://www.epilepsy.com/learn/treating-seizures-and-epilepsy/seizure-and-epilepsy-medicines/blood-testing true JSmith 2013-01-07T13:38:48Z Any measurement of the nervous system, the organ system which, along with the endocrine system, correlates the adjustments and reactions of the organism to its internal and external environment via transmission of information, in the form of electrochemical impulses, throughout the body. nervous system measurement JSmith 2013-01-07T16:14:04Z Any measurement of the fluid contained within the ventricles of the brain, the subarachnoid space, and the central canal of the spinal cord. https://www.ncbi.nlm.nih.gov/pubmed/26575850 cerebrospinal fluid measurement true JSmith 2013-01-07T16:22:14Z A quantification of a parameter of the chemical composition of the cerebrospinal fluid, the fluid contained within the ventricles of the brain, the subarachnoid space, and the central canal of the spinal cord. Not4Curation cerebrospinal fluid chemistry measurement https://link.springer.com/article/10.1007/BF02075764 true JSmith 2013-01-07T16:25:29Z A quantification of one or more mineral salts found in the cerebrospinal fluid in the form of electrically charged ions. cerebrospinal fluid electrolyte measurement https://link.springer.com/article/10.1007/BF02075764 true JSmith 2013-01-07T16:39:25Z Measurement of the amount of choride, the negatively charged ion of chlorine, found in a specified volume of cerebrospinal fluid. cerebrospinal fluid chloride level https://link.springer.com/article/10.1007/BF02075764 true JSmith 2013-01-07T16:42:05Z The amount of cationic sodium in a specified volume of cerebrospinal fluid. cerebrospinal fluid sodium level https://link.springer.com/article/10.1007/BF02075764 true JSmith 2013-01-09T13:44:03Z The amount of lactate, a salt of lactic acid which is produced in the body by anaerobic metabolism of carbohydrate, in a specified volume of blood. https://www.ncbi.nlm.nih.gov/pubmed/29110774 blood lactate level true JSmith 2013-01-10T17:31:25Z Any measurement of a single red blood cell, one of the hemoglobin-containing blood cells that transport oxygen and carbon dioxide to and from the tissues, or of all of the red blood cells in a sample of blood. erythrocyte measurement red blood cell measurement https://www.webmd.com/epilepsy/guide/epilepsy-blood-test JSmith 2013-11-26T11:05:41Z Any measurement related to a morphological or physiological parameter, such as the amount or composition, of cytokines in blood, the fluid that circulates through the heart, arteries, capillaries and veins carrying nutrients and oxygen to the body tissues and metabolites away from them. A cytokine is a type of nonantibody protein released by a cell population on contact with specific antigen, which acts as an intercellular mediator, as in the generation of an immune response. https://www.ncbi.nlm.nih.gov/pubmed/28288363 blood cytokine measurement true JSmith 2013-12-02T13:23:47Z Any quantification of a morphological or physiological parameter of the central nervous system, i.e., the brain and/or spinal cord. CNS measurement central nervous system measurement JSmith 2014-03-11T14:12:54Z The amount of enzymatic activity of creatine kinase (CK) enzyme in a specified sample of blood. CK catalyses the reversible transfer of phosphate between ATP and various phosphogens such as creatine phosphate. Blood CK level is used as an enzymatic marker for myocardial infarction, rhabdomyolysis and acute renal failure. blood creatine phosphokinase activity level blood CK activity level blood CPK activity level https://www.ncbi.nlm.nih.gov/pubmed/28288363 blood creatine kinase activity level true JSmith 2014-04-24T12:47:44Z Any value resulting from the quantification of a morphological or physiological parameter of leukocytes, largely colorless blood corpuscles capable of ameboid movement, whose chief function is to protect the body against microorganisms and other disease-causing entities. leukocyte measurement white blood cell measurement https://www.webmd.com/epilepsy/guide/epilepsy-blood-test true JSmith 2014-06-24T15:58:42Z Any measurement of a protein that catalyzes chemical reactions of other substances without itself being destroyed or altered upon completion of the reaction(s) in a specified sample of blood. Not4Curation blood enzyme measurement A disease that involving errors in metabolic processes of building or degradation of molecules. ICD10CM:E88.9 ICD9CM:277.9 MESH:D008659 NCI:C3235 SNOMEDCT_US_2018_03_01:30390004 SNOMEDCT_US_2018_03_01:75934005 UMLS_CUI:C0025517 Metabolic Disorder metabolic disease disease_ontology DOID:0014667 disease of metabolism https://www.epilepsy.com/learn/professionals/co-existing-disorders/metabolic-disorders true An acquired metabolic disease that is characterized by abnormal carbohydrate metabolism. disease_ontology DOID:0050013 carbohydrate metabolism disease A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions. infectious disease DOID:10115 DOID:11078 DOID:1304 DOID:1321 DOID:2040 DOID:2288 DOID:3099 DOID:4120 DOID:4620 DOID:5256 DOID:945 DOID:95 DOID:9532 DOID:9696 ICD9CM:079.0 UMLS_CUI:C0001485 infectious disease disease_ontology DOID:0050117 DO:wk disease by infectious agent A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell). disease_ontology DOID:0050155 sensory system disease A respiratory system disease which involves the lower respiratory tract. ICD9CM:478.1 ICD9CM:478.19 UMLS_CUI:C0029581 disease_ontology DOID:0050161 lower respiratory tract disease A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. disease_ontology DOID:0050177 monogenic disease A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread. disease_ontology DOID:0050338 primary bacterial infectious disease A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them. EFO:0004270 GARD:11926 ICD10CM:G25.81 ICD9CM:333.94 MESH:D012148 NCI:C84501 OMIM:PS102300 SNOMEDCT_US_2018_03_01:32914008 UMLS_CUI:C0035258 WED Willis-Ekbom disease Wittmaack-Ekbom syndrome disease_ontology DOID:0050425 Xref MGI. restless legs syndrome http://www.case.edu/EpSO.owl#RestlessLegSyndrome https://www.epilepsy.com/learn/professionals/co-existing-disorders/sleep-disorders/periodic-limb-movements-and-restless-legs true A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. https://www.ncbi.nlm.nih.gov/pubmed/23538271 ICD10CM:I49.8 MESH:D053840 OMIM:PS601144 ORDO:130 UMLS_CUI:C1142166 UMLS_CUI:C1721096 Bangungut Brugada type idiopathic ventricular fibrillation Dream disease Pokkuri death syndrome SUNDS sudden unexplained nocturnal death syndrome disease_ontology DOID:0050451 OMIM mapping confirmed by DO. [SN]. Brugada syndrome true A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation. GARD:12291 ICD10CM:Q04.3 ICD10CM:Q04.8 MESH:D054082 NCI:C103921 OMIM:300067 OMIM:300215 OMIM:607432 OMIM:611603 OMIM:614019 OMIM:615191 ORDO:102009 SNOMEDCT_US_2018_03_01:23024003 UMLS_CUI:C0266463 UMLS_CUI:C0266483 Lissencephaly is a malformation of cortical development, where there is deficient gyration (folding) in the cerebral cortex, resulting in absent gyri (agyria) and/or broad simple gyri (pachygyria). disease_ontology DOID:0050453 Xref MGI. OMIM mapping confirmed by DO. [SN]. lissencephaly true Lissencephaly is a malformation of cortical development, where there is deficient gyration (folding) in the cerebral cortex, resulting in absent gyri (agyria) and/or broad simple gyri (pachygyria). https://www.epilepsydiagnosis.org/aetiology/lissencephaly-overview.html A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a microdeletion of the short arm of chromosome 4. DOID:6684 GARD:7896 ICD10CM:Q93.3 MESH:D054877 NCI:C35528 OMIM:194190 ORDO:280 SNOMEDCT_US_2018_03_01:17122004 UMLS_CUI:C0796117 UMLS_CUI:C1956097 Wolf-Hirschhorn syndrome results from the partial deletion of the short arm of chromosome 4. The abnormality results in developmental delay, intellectual impairment (severe), hypotonia and epilepsy, and a number of dysmorphic features (microcephaly, micrognathia, short philtrum, epicanthic folds, high forehead, prominent glabella, ocular hypertelorism, dysplastic ears and peri-auricular tags). The nose may have a 'Greek helmet' appearance. There may also be congenital heart defects, hypospadias, colobomata of the iris, renal anomalies, cleft lip and/or palate and deafness. Immune disorders including common variable immunodeficiency and IgA deficiency may occur. Neuroimaging may show abnormalities of the corpus callosum or cerebellum, or other abnormality. Most cases are sporadic, with 10% inherited from a parent with a translocation. Seizures occur in the majority (>90%), typically starting in the first three years of life, with generalized tonic-clonic or hemiclonic seizures facilitated by fever (resulting in seizure clusters or status epilepticus) seen at that time. Epileptic spasms, atypical absences and focal seizures may also occur. EEG patterns of two types are recognized - diffuse, atypical slow sharp/spike-and-wave complexes in long bursts activated by slow wave sleep or high amplitude fast spike/polyspike-and-wave with posterior emphasis, triggered by eye closure. Seizures are usually well-controlled with monotherapy and improve with age. Routine karyotype assessment may not allow diagnosis of this syndrome, FISH analysis with sub-telomeric region-specific probes or CGH microarray are usually necessary. 4p deletion syndrome PITT SYNDROME Pitt-Rogers-Danks Syndrome Wolf-Hirschhorn syndrome (del 4p) chromosome 4p16.3 deletion syndrome disease_ontology DOID:0050460 OMIM mapping confirmed by DO. [LS]. Wolf-Hirschhorn syndrome true true Wolf-Hirschhorn syndrome results from the partial deletion of the short arm of chromosome 4. The abnormality results in developmental delay, intellectual impairment (severe), hypotonia and epilepsy, and a number of dysmorphic features (microcephaly, micrognathia, short philtrum, epicanthic folds, high forehead, prominent glabella, ocular hypertelorism, dysplastic ears and peri-auricular tags). The nose may have a 'Greek helmet' appearance. There may also be congenital heart defects, hypospadias, colobomata of the iris, renal anomalies, cleft lip and/or palate and deafness. Immune disorders including common variable immunodeficiency and IgA deficiency may occur. Neuroimaging may show abnormalities of the corpus callosum or cerebellum, or other abnormality. Most cases are sporadic, with 10% inherited from a parent with a translocation. Seizures occur in the majority (>90%), typically starting in the first three years of life, with generalized tonic-clonic or hemiclonic seizures facilitated by fever (resulting in seizure clusters or status epilepticus) seen at that time. Epileptic spasms, atypical absences and focal seizures may also occur. EEG patterns of two types are recognized - diffuse, atypical slow sharp/spike-and-wave complexes in long bursts activated by slow wave sleep or high amplitude fast spike/polyspike-and-wave with posterior emphasis, triggered by eye closure. Seizures are usually well-controlled with monotherapy and improve with age. Routine karyotype assessment may not allow diagnosis of this syndrome, FISH analysis with sub-telomeric region-specific probes or CGH microarray are usually necessary. https://www.epilepsydiagnosis.org/aetiology/chromosomal-abnormalities-overview.html#wolf A childhood electroclinical syndrome that is characterized by frequent seizures and intellectual disability that present in early childhood. GARD:9912 OMIM:606369 ORDO:2382 This syndrome is characterized by the presence multiple types of intractable seizures (in particular tonic seizures in sleep, but atonic and atypical absence seizures also occur), cognitive and behavioral impairments and diffuse slow spike-and-wave and paroxysms of fast activity on EEG. Lennox syndrome disease_ontology DOID:0050561 Lennox-Gastaut syndrome true This syndrome is characterized by the presence multiple types of intractable seizures (in particular tonic seizures in sleep, but atonic and atypical absence seizures also occur), cognitive and behavioral impairments and diffuse slow spike-and-wave and paroxysms of fast activity on EEG. https://www.epilepsydiagnosis.org/syndrome/lgs-overview.html An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability. GARD:7887 MESH:D013036 NCI:C84788 ORDO:3451 West syndrome is characterized by the onset of epileptic spasms, typically in the first year of life. Global developmental impairment (with or without regression) is typically seen. disease_ontology Infantile spasms syndrome DOID:0050562 West syndrome true true true West syndrome is characterized by the onset of epileptic spasms, typically in the first year of life. Global developmental impairment (with or without regression) is typically seen. https://www.epilepsydiagnosis.org/syndrome/west-syndrome-overview.html An intestinal disease characterized by inflammation located_in all parts of digestive tract. EFO:0003767 KEGG:05321 MESH:D015212 NCI:C3138 OMIM:PS266600 SNOMEDCT_US_2018_03_01:24526004 UMLS_CUI:C0021390 disease_ontology DOID:0050589 Xref MGI. OMIM mapping confirmed by DO. [SN]. inflammatory bowel disease A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning. OMIM:PS604348 ORDO:164736 familial advanced sleep-phase syndrome disease_ontology DOID:0050628 Xref MGI. advanced sleep phase syndrome http://www.case.edu/EpSO.owl#AdvancedSleepPhaseSyndrome A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body. GARD:11 ICD10CM:G98 MESH:C536589 OMIM:104290 OMIM:614820 ORDO:2131 Alternating hemiplegia of childhood is a rare disorder, with onset in the first year of life, characterised by recurrent attacks of hemiplegia affecting either side of the body. There may be bilateral weakness from the onset of episodes or during the attacks. Attacks may last minutes to more than half an hour. Other signs include nystagmus, pallor, crying, eye deviation, autonomic symptoms and dystonic and tonic elements during the episodes, with choreoathetosis between episodes. Events may be mistaken for focal seizures. Parkinsonian features may develop over time. Events may be triggered by stress, water, certain foods and exercise. Sleep allows the symptoms in an episode to resolve, however they may return 10-20 minutes after waking. Affected infants have learning disability and abnormal motor development. A significant proportion of individuals will also have focal seizures. The vast majority of individuals (about 80%), have mutations in the ATP1A3 gene. AHC Alternating hemiplegia disease_ontology DOID:0050635 Xref MGI. OMIM mapping confirmed by DO. [SN]. alternating hemiplegia of childhood true Alternating hemiplegia of childhood is a rare disorder, with onset in the first year of life, characterised by recurrent attacks of hemiplegia affecting either side of the body. There may be bilateral weakness from the onset of episodes or during the attacks. Attacks may last minutes to more than half an hour. Other signs include nystagmus, pallor, crying, eye deviation, autonomic symptoms and dystonic and tonic elements during the episodes, with choreoathetosis between episodes. Events may be mistaken for focal seizures. Parkinsonian features may develop over time. Events may be triggered by stress, water, certain foods and exercise. Sleep allows the symptoms in an episode to resolve, however they may return 10-20 minutes after waking. Affected infants have learning disability and abnormal motor development. A significant proportion of individuals will also have focal seizures. The vast majority of individuals (about 80%), have mutations in the ATP1A3 gene. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#alt-hemiplegia A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle. lschriml 2012-01-03T02:54:11Z ICD10CM:I42 ICD10CM:I42.9 ICD10CM:I51.5 ICD9CM:425 ICD9CM:425.9 MESH:D009202 NCI:C34830 NCI:C53654 SNOMEDCT_US_2018_03_01:20072003 SNOMEDCT_US_2018_03_01:57809008 SNOMEDCT_US_2018_03_01:85898001 SNOMEDCT_US_2018_03_01:89461002 SNOMEDCT_US_2018_03_01:89600009 UMLS_CUI:C0033141 UMLS_CUI:C0036529 UMLS_CUI:C0878544 Cardiomyopathies disease_ontology DOID:0050700 MESH:D009202 added from NeuroDevNet [WAK]. cardiomyopathy https://www.epilepsy.com/learn/professionals/co-existing-disorders/cardiac-disorders true A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures. lschriml 2012-05-10T10:02:58Z DOID:2481 GARD:9255 OMIM:PS308350 ORDO:1934 Ohtahara syndrome (also known as early infantile epileptic encephalopathy, EIEE) is a syndrome characterized by frequent intractable seizures and severe early encephalopathy resulting in limited development and reduced life expectancy. Tonic seizures predominate, myoclonic seizures are uncommon, distinguishing this syndrome from early myoclonic encephalopathy. Treatable metabolic etiologies (especially pyridoxine and pyridoxal-5-phosphate disorders) should be excluded early. Early Infantile Epileptic Encephalopathy with Burst-Suppression Ohtahara syndrome disease_ontology DOID:0050709 early infantile epileptic encephalopathy true true true Ohtahara syndrome (also known as early infantile epileptic encephalopathy, EIEE) is a syndrome characterized by frequent intractable seizures and severe early encephalopathy resulting in limited development and reduced life expectancy. Tonic seizures predominate, myoclonic seizures are uncommon, distinguishing this syndrome from early myoclonic encephalopathy. Treatable metabolic etiologies (especially pyridoxine and pyridoxal-5-phosphate disorders) should be excluded early. https://www.epilepsydiagnosis.org/syndrome/ohtahara-overview.html An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. lschriml 2012-07-24T12:51:47Z disease_ontology DOID:0050736 autosomal dominant disease A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes. lschriml 2012-07-24T04:45:53Z disease_ontology DOID:0050739 autosomal genetic disease A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol. lschriml 2012-09-05T11:48:42Z https://www.ncbi.nlm.nih.gov/pubmed/14594442 EFO:0003829 KEGG:05034 OMIM:103780 SNOMEDCT_US_2018_03_01:66590003 alcoholism disease_ontology DOID:0050741 alcohol dependence true A substance dependence that is characterized by a physical dependence on nicotine. lschriml 2012-09-05T11:48:42Z https://www.ncbi.nlm.nih.gov/pubmed/24441294 EFO:0003768 ICD10CM:F17 ICD10CM:F17.2 ICD10CM:F17.20 MESH:D014029 NCI:C54203 SNOMEDCT_US_2018_03_01:56294008 UMLS_CUI:C0028043 Nicotine use tobacco use disorder disease_ontology DOID:0050742 nicotine dependence true A vascular disease that is located_in an artery. lschriml 2014-02-12T03:08:35Z disease_ontology DOID:0050828 artery disease A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep. lschriml 2014-03-20T03:57:22Z ICD10CM:G47.3 ICD10CM:G47.30 ICD9CM:780.57 MESH:D012891 NCI:C26884 SNOMEDCT_US_2018_03_01:73430006 UMLS_CUI:C0037315 disease_ontology DOID:0050847 sleep apnea A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep. lschriml 2014-03-20T03:57:22Z https://www.ncbi.nlm.nih.gov/books/NBK1169/#adnfle.Clinical_Characteristics ICD10CM:G47.33 ICD9CM:327.23 MESH:D020181 NCI:C116337 NCI:C27168 OMIM:107650 SNOMEDCT_US_2018_03_01:78275009 UMLS_CUI:C0520679 obstructive sleep apnea syndrome disease_ontology DOID:0050848 Xref MGI. obstructive sleep apnea http://www.case.edu/EpSO.owl#ObstructiveSleepApnea true A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. lschriml 2015-10-05T14:38:17Z GARD:6614 disease_ontology DOID:0050951 hereditary ataxia An episodic ataxia that is characterized by periodic ataxia and frequent myokymic discharges, and has_material_basis_in autosomal dominant inheritance of mutation in the potassium channel gene KCNA1. lschriml 2015-10-06T16:26:26Z OMIM:160120 Episodic ataxia 1 is associated with mutations in a potassium ion channel gene KCNA1. Brief episodes of cerebellar ataxia lasting seconds or minutes are triggered by sudden movements, emotion or intercurrent illness. disease_ontology DOID:0050989 episodic ataxia type 1 true Episodic ataxia 1 is associated with mutations in a potassium ion channel gene KCNA1. Brief episodes of cerebellar ataxia lasting seconds or minutes are triggered by sudden movements, emotion or intercurrent illness. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#episodic-ataxias An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has_material_basis_in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A. lschriml 2015-10-06T16:26:26Z https://www.ncbi.nlm.nih.gov/pubmed/27025991 OMIM:108500 EA2 is characterised by periods of cerebellar ataxia lasting minutes to hours, which are triggered by physical and emotional stress. Gait and upper limb ataxia may be accompanied by dysarthria, nystagmus, vertigo, nausea and headache. EA2 can be distinguished from seizures by recognition of triggers, family history and retention of awareness during events. EA2 is associated with mutations in the calcium ion channel gene CACNA1A. Variants in this gene are associated with familial hemiplegic migraine and spinocerebellar ataxia type 6 and some phenotypic overlap with these disorders may occur. There may be gaze-evoked nystagmus in between episodes and over time vertical nystagmus may develop. disease_ontology DOID:0050990 episodic ataxia type 2 true true EA2 is characterised by periods of cerebellar ataxia lasting minutes to hours, which are triggered by physical and emotional stress. Gait and upper limb ataxia may be accompanied by dysarthria, nystagmus, vertigo, nausea and headache. EA2 can be distinguished from seizures by recognition of triggers, family history and retention of awareness during events. EA2 is associated with mutations in the calcium ion channel gene CACNA1A. Variants in this gene are associated with familial hemiplegic migraine and spinocerebellar ataxia type 6 and some phenotypic overlap with these disorders may occur. There may be gaze-evoked nystagmus in between episodes and over time vertical nystagmus may develop. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#episodic-ataxias An autoimmune hypersensitivity disease located_in the central nervous system. disease_ontology DOID:0060004 autoimmune disease of central nervous system An autoimmune hypersensitivity disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract. disease_ontology DOID:0060031 autoimmune disease of gastrointestinal tract An autoimmune hypersensitivity disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system. disease_ontology DOID:0060032 autoimmune disease of musculoskeletal system An autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous system. disease_ontology DOID:0060033 autoimmune disease of peripheral nervous system A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause. https://www.ncbi.nlm.nih.gov/pubmed/31327513 disease_ontology DOID:0060036 intrinsic cardiomyopathy true A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development. disease_ontology DOID:0060037 developmental disorder of mental health A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination. disease_ontology DOID:0060038 specific developmental disorder An autoimmune hypersensitivity disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue. disease_ontology DOID:0060039 autoimmune disease of skin and connective tissue A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors. DOID:1208 ICD9CM:299.80 UMLS_CUI:C0154451 pervasive development disorder disease_ontology DOID:0060040 pervasive developmental disorder A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior. https://www.ncbi.nlm.nih.gov/pubmed/30691036 GARD:10248 MESH:D000067877 disease_ontology DOID:0060041 autism spectrum disorder http://www.case.edu/EpSO.owl#AutismSpectrumDisorder true true A disease of mental health that involves the impairment in normal sexual functioning. https://www.ncbi.nlm.nih.gov/pubmed/28775613 disease_ontology DOID:0060043 sexual disorder true A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition. disease_ontology DOID:0060047 writing disorder An immune system disease that has_material_basis_in abnormal immune responses. disease_ontology DOID:0060056 hypersensitivity reaction disease A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize. lschriml 2011-05-11T12:18:41Z disease_ontology DOID:0060072 benign neoplasm A benign neoplasm that is classified by the type of cell or tissue from which it is derived. lschriml 2011-07-14T11:59:48Z disease_ontology DOID:0060084 cell type benign neoplasm A benign neoplasm that is classified by the organ system from which it is arising from. lschriml 2011-07-14T12:12:23Z disease_ontology DOID:0060085 organ system benign neoplasm A central nervous system benign neoplasm that is characterized by lack of malignancy. lschriml 2011-07-14T01:45:15Z disease_ontology DOID:0060090 central nervous system benign neoplasm An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system. lschriml 2011-07-14T01:45:15Z disease_ontology DOID:0060091 cardiovascular organ benign neoplasm A brain cancer that has_material_basis_in glial cells. lschriml 2011-07-22T12:42:50Z lower grade glioma disease_ontology Low Grade Glioma DOID:0060108 brain glioma http://www.case.edu/EpSO.owl#LowGradeGlioma An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system. lschriml 2011-07-25T12:47:43Z disease_ontology DOID:0060115 nervous system benign neoplasm An agnosia that is a loss of the ability to visually recognize objects. lschriml 2011-08-22T12:04:56Z https://www.ncbi.nlm.nih.gov/pubmed/29237192 MESH:C531604 UMLS_CUI:C2930796 disease_ontology DOID:0060155 visual agnosia http://www.case.edu/EpSO.owl#VisualAgnosia true A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption. lschriml 2011-08-24T02:53:03Z disease_ontology DOID:0060158 acquired metabolic disease An infancy electroclinical syndrome that is characterized by convulsions, with onset at age 3 to 12 months. lschriml 2011-10-28T02:55:02Z https://www.ncbi.nlm.nih.gov/pubmed/12503648 GARD:1518 GARD:857 OMIM:601764 OMIM:605751 OMIM:607745 OMIM:612627 ORDO:306 BFIC BFIE Benign familial infantile seizures benign familial infantile convulsion benign familial infantile seizures disease_ontology DOID:0060169 Xref MGI. benign familial infantile epilepsy true An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures. lschriml 2011-11-08T10:42:18Z This genetic/idiopathic generalized epilepsy is characterized by absence seizures that are not very frequent in an otherwise normal adolescent or adult. Generalized tonic-clonic seizures typically also occur. With absence seizures in a child aged between 8 and 12 years, a diagnosis of juvenile absence epilepsy or childhood absence epilepsy depends on the frequency of the absence seizures. disease_ontology DOID:0060172 JA:Epilepsy Genetics Kiel juvenile absence epilepsy http://www.case.edu/EpSO.owl#JuvenileAbsenceEpilepsy true true This genetic/idiopathic generalized epilepsy is characterized by absence seizures that are not very frequent in an otherwise normal adolescent or adult. Generalized tonic-clonic seizures typically also occur. With absence seizures in a child aged between 8 and 12 years, a diagnosis of juvenile absence epilepsy or childhood absence epilepsy depends on the frequency of the absence seizures. https://www.epilepsydiagnosis.org/syndrome/jae-overview.html A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness. lschriml 2011-11-08T02:54:32Z GARD:10975 ICD10CM:G43.8 ICD9CM:346.8 ORDO:569 UMLS_CUI:C0477373 Familial hemiplegic migraine is a subtype of migraine with aura in which focal weakness with or without speech disturbance, visual symptoms and paraesthesia develop prior to the onset of headache. Confusion and, in rare severe cases, coma may accompany weakness. disease_ontology DOID:0060178 Xref MGI. familial hemiplegic migraine true Familial hemiplegic migraine is a subtype of migraine with aura in which focal weakness with or without speech disturbance, visual symptoms and paraesthesia develop prior to the onset of headache. Confusion and, in rare severe cases, coma may accompany weakness. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#fam-hemimigraine A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors. emitraka 2015-01-28T16:29:51Z https://www.ncbi.nlm.nih.gov/pubmed/15797356 OMIM:606711 OMIM:606712 OMIM:607134 OMIM:612514 OMIM:615432 language impairment disease_ontology DOID:0060244 NT MGI. specific language impairment true An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights. emitraka 2015-02-04T16:15:55Z GARD:5648 ICD10CM:G40.8 OMIM:132100 OMIM:609572 OMIM:609573 ORDO:166409 photogenic epilepsy photoparoxysmal response disease_ontology DOID:0060281 NT MGI. photosensitive epilepsy https://www.epilepsysociety.org.uk/photosensitive-epilepsy#.Xl9_lqgzbIV true A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all. emitraka 2015-02-25T15:12:30Z https://www.ncbi.nlm.nih.gov/pubmed/22916156 ICD10CM:I46 ICD9CM:427.5 MESH:D006323 NCI:C50479 NCI:C50483 SNOMEDCT_US_2018_03_01:30298009 UMLS_CUI:C0018790 UMLS_CUI:C0600228 cardiopulmonary arrest circulatory arrest disease_ontology Cardiac asystole Sudden cardiac arrest DOID:0060319 cardiac arrest https://www.epilepsy.com/learn/professionals/co-existing-disorders/cardiac-disorders true true A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes. emitraka 2015-02-25T17:47:25Z https://www.ncbi.nlm.nih.gov/pubmed/20430655 ICD10CM:Q05 MESH:D008591 NCI:C101201 NCI:C98874 SNOMEDCT_US_2018_03_01:7096005 SNOMEDCT_US_2018_03_01:82058009 UMLS_CUI:C0025312 UMLS_CUI:C0086664 UMLS_CUI:C0751316 disease_ontology DOID:0060326 myelomeningocele true A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15. elvira 2015-09-28T16:23:21Z GARD:10296 ICD10CM:Q93.5 MESH:C567439 OMIM:612001 ORDO:199318 This chromosomal abnormality is associated with intellectual impairment, developmental delay and epilepsy. Seizures of various types may occur, however these are typically generalized (myoclonic, absence and generalized tonic-clonic). Dysmorphic features may include everted lips, deep-set eyes, upslanting palpebral fissures, hypertelorism, synophris, prominent philtrum and hypotonic facies. A CGH microarray is usually the most useful diagnostic test. 15q13.3 microdeletion syndrome disease_ontology DOID:0060394 chromosome 15q13.3 microdeletion syndrome true This chromosomal abnormality is associated with intellectual impairment, developmental delay and epilepsy. Seizures of various types may occur, however these are typically generalized (myoclonic, absence and generalized tonic-clonic). Dysmorphic features may include everted lips, deep-set eyes, upslanting palpebral fissures, hypertelorism, synophris, prominent philtrum and hypotonic facies. A CGH microarray is usually the most useful diagnostic test. https://www.epilepsydiagnosis.org/aetiology/chromosomal-abnormalities-overview.html#15q13 elvira 2015-09-28T17:05:53Z ICD10CM:Q93.5 MESH:C536580 OMIM:601808 ORDO:1600 This chromosomal abnormality is associated with intellectual impairment (moderate-severe), behavioral disorder, epilepsy and dysmorphic features including microcephaly, turricephaly, deep-set-eyes, broad nasal bridge, high arched or cleft palate, carp shaped mouth and small hands and feet. Cardiac defects may occur. Neuroimaging shows abnormal myelination, and may show cerebellar hypoplasia. Seizures are of early onset and seizures with focal autonomic seizures features are common (which may result in cardiac arrhythmia and apnoea). It is notable that this chromosome deletion may include the TCF4 gene, which is mutated in Pitt Hopkins Syndrome. 18q- syndrome deletion 18q monosomy 18q disease_ontology DOID:0060407 chromosome 18q deletion syndrome true This chromosomal abnormality is associated with intellectual impairment (moderate-severe), behavioral disorder, epilepsy and dysmorphic features including microcephaly, turricephaly, deep-set-eyes, broad nasal bridge, high arched or cleft palate, carp shaped mouth and small hands and feet. Cardiac defects may occur. Neuroimaging shows abnormal myelination, and may show cerebellar hypoplasia. Seizures are of early onset and seizures with focal autonomic seizures features are common (which may result in cardiac arrhythmia and apnoea). It is notable that this chromosome deletion may include the TCF4 gene, which is mutated in Pitt Hopkins Syndrome. https://www.epilepsydiagnosis.org/aetiology/chromosomal-abnormalities-overview.html#18q- elvira 2015-09-28T17:14:10Z GARD:6082 MESH:C535362 NCI:C74983 OMIM:607872 ORDO:1606 UMLS_CUI:C1842870 This chromosomal abnormality results in intellectual impairment (moderate to severe), epilepsy and multiple congenital abnormalities. Dysmorphic features include microcephaly, brachycephaly, large and late-closing anterior fontanelle, prominent forehead, straight (horizontal) eyebrows, deep-set eyes, short palpebral fissure, broad nasal bridge, midface hypoplasia, hypotonic facies, low-set abnormal ears, pointed chin and shortened hands and feet. Sensorineural hearing loss, skeletal, urogenital and cardiac defects may occur. Neuroimaging may show a range of structural brain abnormalities. Seizures occur in >50% of cases, typically starting in infancy or childhood with many types of seizures seen, including epileptic spasms, generalized and focal seizures. Seizures may cluster during febrile illness. Some patients may have Ohtahara syndrome. Seizure control is usually not difficult to achieve. Routine karyotype assessment may not allow diagnosis of this syndrome, FISH analysis with sub-telomeric region-specific probes or CGH microarray are usually necessary. 1p36 deletion syndrome deletion 1p36 monosomy 1p36 disease_ontology subtelomeric 1p36 deletion DOID:0060410 chromosome 1p36 deletion syndrome true This chromosomal abnormality results in intellectual impairment (moderate to severe), epilepsy and multiple congenital abnormalities. Dysmorphic features include microcephaly, brachycephaly, large and late-closing anterior fontanelle, prominent forehead, straight (horizontal) eyebrows, deep-set eyes, short palpebral fissure, broad nasal bridge, midface hypoplasia, hypotonic facies, low-set abnormal ears, pointed chin and shortened hands and feet. Sensorineural hearing loss, skeletal, urogenital and cardiac defects may occur. Neuroimaging may show a range of structural brain abnormalities. Seizures occur in >50% of cases, typically starting in infancy or childhood with many types of seizures seen, including epileptic spasms, generalized and focal seizures. Seizures may cluster during febrile illness. Some patients may have Ohtahara syndrome. Seizure control is usually not difficult to achieve. Routine karyotype assessment may not allow diagnosis of this syndrome, FISH analysis with sub-telomeric region-specific probes or CGH microarray are usually necessary. https://www.epilepsydiagnosis.org/aetiology/chromosomal-abnormalities-overview.html#del A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene. elvira 2015-11-17T16:22:00Z ICD10CM:Q93.88 MESH:D054221 NCI:C124852 OMIM:247200 ORDO:531 SNOMEDCT_US_2018_03_01:43849007 UMLS_CUI:C0265219 This clinical syndrome may arise from a microdeletion in chromosome 17p (17p13.3 microdeletion) or from other chromosomal abnormalities (e.g. translocations, ring chromosome, contiguous deletions) affecting 17p. The LIS1 gene is located on 17p and this syndrome includes the presence of classical (type 1) lissencephaly. The children have distinctive facial features with a short upturned nose, thickened upper lip with a thin vermillion upper border, frontal bossing, small jaw, low-set posteriorly rotated ears, sunken appearance in the middle of the face, widely spaced eyes, and hypertelorism. The forehead is prominent with bitemporal hollowing. Most (80%) of cases are sporadic, with 20% of cases inherited from an unaffected parent with a balanced translocation. Renal malformations and omphalocele have also been reported. MDS Miller dieker syndrome (del 17p) Miller-Dieker syndrome disease_ontology DOID:0060469 Miller-Dieker lissencephaly syndrome true This clinical syndrome may arise from a microdeletion in chromosome 17p (17p13.3 microdeletion) or from other chromosomal abnormalities (e.g. translocations, ring chromosome, contiguous deletions) affecting 17p. The LIS1 gene is located on 17p and this syndrome includes the presence of classical (type 1) lissencephaly. The children have distinctive facial features with a short upturned nose, thickened upper lip with a thin vermillion upper border, frontal bossing, small jaw, low-set posteriorly rotated ears, sunken appearance in the middle of the face, widely spaced eyes, and hypertelorism. The forehead is prominent with bitemporal hollowing. Most (80%) of cases are sporadic, with 20% of cases inherited from an unaffected parent with a balanced translocation. Renal malformations and omphalocele have also been reported. https://www.epilepsydiagnosis.org/aetiology/chromosomal-abnormalities-overview.html#millerdieker A hypersensitivity reaction type I disease triggered by a drug. https://www.ncbi.nlm.nih.gov/pubmed/1831121 disease_ontology Allergic rash DOID:0060500 drug allergy true A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations. https://www.ncbi.nlm.nih.gov/books/NBK83677/ GARD:11918 OMIM:PS600513 ORDO:98784 Autosomal dominant nocturnal frontal lobe epilepsy is a familial epilepsy with focal seizures beginning most commonly in childhood, although sporadic cases may occur. Brief nocturnal frontal lobe seizures with hyperkinetic, tonic or dystonic motor features are seen. Treatment with low dose carbamazepine is effective, however 30% of cases are resistant to treatment. Interictal EEG is often normal but may show anterior epileptiform abnormalities, typically in sleep. Mutations have been identified in genes coding for different subunits of the neuronal nicotinic acetylcholine receptors in 15% of familial cases, and in some sporadic cases. ADNFLE ENFL disease_ontology DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy http://www.case.edu/EpSO.owl#AutosomalDominantNocturnalFrontalLobeEpilepsy true Autosomal dominant nocturnal frontal lobe epilepsy is a familial epilepsy with focal seizures beginning most commonly in childhood, although sporadic cases may occur. Brief nocturnal frontal lobe seizures with hyperkinetic, tonic or dystonic motor features are seen. Treatment with low dose carbamazepine is effective, however 30% of cases are resistant to treatment. Interictal EEG is often normal but may show anterior epileptiform abnormalities, typically in sleep. Mutations have been identified in genes coding for different subunits of the neuronal nicotinic acetylcholine receptors in 15% of familial cases, and in some sporadic cases. https://www.epilepsydiagnosis.org/syndrome/adnfle-overview.html A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function. DOID:1290 ICD10CM:M89.9 MESH:D001847 SNOMEDCT_US_2018_03_01:76069003 UMLS_CUI:C0005940 disease_ontology skeletal disease DOID:0080001 bone disease A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. disease_ontology DOID:0080015 physical disorder https://www.ncbi.nlm.nih.gov/pubmed/20430655 GARD:7673 MESH:D016135 disease_ontology DOID:0080016 spina bifida true lschriml 2015-10-19T14:41:42Z GARD:4016 OMIM:301410 OMIM:601634 disease_ontology DOID:0080074 neural tube defect A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma on chromosome 15q26. DOID:1442 GARD:5783 ICD10CM:G31.81 MESH:D002549 MTHICD9_2006:330.8 NCI:C35257 OMIM:203700 ORDO:726 SNOMEDCT_US_2018_03_01:20415001 UMLS_CUI:C0205710 Intractable seizures with status epilepticus and epilepsia partialis continua occur, with developmental regression and liver dysfunction. Caused by mutations in POLG. Alper's syndrome Alpers disease Alpers progressive infantile poliodystrophy Alpers syndrome Alpers' disease or gray-matter degeneration Alpers-Huttenlocher syndrome progressive sclerosing poliodystrophy disease_ontology DOID:0080122 mitochondrial DNA depletion syndrome 4a true Intractable seizures with status epilepticus and epilepsia partialis continua occur, with developmental regression and liver dysfunction. Caused by mutations in POLG. https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html#mitochondrial An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24. DOID:0060171 GARD:10430 OMIM:607208 ORDO:33069 Dravet syndrome (previously known as severe myoclonic epilepsy of infancy, SMEI), typically presents in the first year of life in a normal child with prolonged, febrile and afebrile, focal (usually hemiclonic) and generalized tonic-clonic seizures. Other seizure types including myoclonic and atypical absence seizures appear between the age of 1 and 4 years. Seizures are usually intractable and from the second year of life children demonstrate cognitive and behaviour impairments. The clinical diagnosis is supported by the presence of abnormalities in the sodium channel gene SCN1A (found in 75% of cases). early infantile epileptic encephalopathy 6 disease_ontology DOID:0080422 Dravet syndrome true Dravet syndrome (previously known as severe myoclonic epilepsy of infancy, SMEI), typically presents in the first year of life in a normal child with prolonged, febrile and afebrile, focal (usually hemiclonic) and generalized tonic-clonic seizures. Other seizure types including myoclonic and atypical absence seizures appear between the age of 1 and 4 years. Seizures are usually intractable and from the second year of life children demonstrate cognitive and behaviour impairments. The clinical diagnosis is supported by the presence of abnormalities in the sodium channel gene SCN1A (found in 75% of cases). https://www.epilepsydiagnosis.org/syndrome/dravet-overview.html A sleep disorder characterized by an extreme evening preference, sleep-onset insomnia, and difficulty in awakening at the desired time. DSPD disease_ontology DOID:0111141 delayed sleep phase syndrome http://www.case.edu/EpSO.owl#DelayedSleepPhaseSyndrome A congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex. MESH:D054221 NCI:C116933 OMIM:600348 ORDO:99796 UMLS_CUI:C1848201 Subcortical band heterotopia is a malformation of cortical development, where there is a band of cortical cells (grey matter) located between the lateral ventricular wall and the cortex. The overlying cortex has a largely normal appearance, but may have mildly shallow sulcation. It occurs due to failure of migration of a population of neuronal cells to their correct location in the cerebral cortex. Subcortical band heterotopia is typically bilateral, symmetric and anterior-predominant.Occasionally subcortical band heterotopia can be bifrontal only, or rarely biparieto-occipital. Subcortical band heterotopia usually occurs in isolation, without other associated structural brain abnormalities, though mild cerebellar hypoplasia can occur with DCX mutations. HeCo band heterotopia double cortex syndrome heterotopic cortex subcortical laminar heterotopia disease_ontology DOID:0111169 subcortical band heterotopia true Subcortical band heterotopia is a malformation of cortical development, where there is a band of cortical cells (grey matter) located between the lateral ventricular wall and the cortex. The overlying cortex has a largely normal appearance, but may have mildly shallow sulcation. It occurs due to failure of migration of a population of neuronal cells to their correct location in the cerebral cortex. Subcortical band heterotopia is typically bilateral, symmetric and anterior-predominant.Occasionally subcortical band heterotopia can be bifrontal only, or rarely biparieto-occipital. Subcortical band heterotopia usually occurs in isolation, without other associated structural brain abnormalities, though mild cerebellar hypoplasia can occur with DCX mutations. https://www.epilepsydiagnosis.org/aetiology/subcortical-heterotopia-overview.html An autonomic nervous system disease characterized by onset in the neonatal period or infancy of paroxysms of rectal, ocular, or submandibular pain with flushing that has_material_basis_in heterozygous mutation in SCN9A on chromosome 2q24.3. GARD:12854 MESH:C563475 OMIM:167400 ORDO:46348 UMLS_CUI:C1833661 Paroxysmal extreme pain disorder is a rare genetic condition associated with mutations in the sodium ion channel gene SCN9A and is characterised by paroxysms of extreme pain. It was previously known as familial rectal pain syndrome. PEPD PEXPD familial rectal pain submandibular, ocular and rectal pain with flushing disease_ontology DOID:0111537 paroxysmal extreme pain disorder true Paroxysmal extreme pain disorder is a rare genetic condition associated with mutations in the sodium ion channel gene SCN9A and is characterised by paroxysms of extreme pain. It was previously known as familial rectal pain syndrome. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#paro-extreme A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in GNAQ on chromosome 9q21.2. GARD:7706 MESH:D013341 OMIM:185300 ORDO:3205 SNOMEDCT_US_2018_03_01:19886006 UMLS_CUI:C0038505 Sturge Weber syndrome is characterized by angiomas of the face, eye and leptomeninges. It is caused by an acquired somatic gene abnormality resulting in a gain of function in the GNAQ gene, in progenitor vascular cells. SWS Sturge-Weber-Dimitri syndrome Sturge-Weber-Krabbe angiomatosis Sturge-Weber-Krabbe syndrome encephalofacial angiomatosis encephalotrigeminal angiomatosis fourth phacomatosis leptomeningeal angiomatosis meningeal capillary angiomatosis disease_ontology DOID:0111563 Sturge-Weber syndrome true Sturge Weber syndrome is characterized by angiomas of the face, eye and leptomeninges. It is caused by an acquired somatic gene abnormality resulting in a gain of function in the GNAQ gene, in progenitor vascular cells. https://www.epilepsydiagnosis.org/aetiology/sturge-weber-overview.html A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon. DOID:10025 https://www.ncbi.nlm.nih.gov/pubmed/26198661 ICD10CM:G43.1 ICD10CM:G43.109 ICD9CM:346.0 MESH:D020325 NCI:C117005 OMIM:609179 OMIM:609670 SNOMEDCT_US_2018_03_01:4473006 UMLS_CUI:C0154723 The visual aura of migraine preceding a headache can take a variety of forms but is typically in one visual field and contains positive phenomena such as flashes, arcs of lights (fortification spectra), specks, or flames and negative phenomena such as scotoma with blanking out or greying of the visual field. Migraine with visual aura classic migraine disease_ontology DOID:10024 Xref MGI. migraine with aura true true The visual aura of migraine preceding a headache can take a variety of forms but is typically in one visual field and contains positive phenomena such as flashes, arcs of lights (fortification spectra), specks, or flames and negative phenomena such as scotoma with blanking out or greying of the visual field. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#migraine-visaura A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions. DOID:10078 DOID:14424 GARD:8194 ICD10CM:B69 ICD10CM:B69.9 ICD9CM:123.1 MESH:D003551 MTHICD9_2006:123.0 NCI:C34520 SNOMEDCT_US_2018_03_01:59051007 UMLS_CUI:C0010678 Neurocysticercosis is caused by ingestion of food contaminated with Taenia solium eggs. Eggs hatch in the intestine, larvae migrate to the central nervous system and then form cysts. Cysts have four phases: 1) vesicular (asymptomatic); 2) colloidal (degeneration and inflammation); 3) granular nodular; and 4) calcification. Although seizures are most often associated with cyst degeneration, they can occur at any stage. Pork tapeworm infection Tapeworm infection: intestinal taenia solum Tapeworm infection: pork intestinal taenia solium infection neurocysticercosis tenia solium infectious disease disease_ontology DOID:10079 cysticercosis true true Neurocysticercosis is caused by ingestion of food contaminated with Taenia solium eggs. Eggs hatch in the intestine, larvae migrate to the central nervous system and then form cysts. Cysts have four phases: 1) vesicular (asymptomatic); 2) colloidal (degeneration and inflammation); 3) granular nodular; and 4) calcification. Although seizures are most often associated with cyst degeneration, they can occur at any stage. https://www.epilepsydiagnosis.org/aetiology/infectious-groupoverview.html A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances. CSP2005:2214-6161 ICD10CM:B56 ICD10CM:B56.9 ICD9CM:086.5 KEGG:05143 MESH:D014353 NCI:C84541 SNOMEDCT_US_2018_03_01:27031003 SNOMEDCT_US_2018_03_01:78940002 UMLS_CUI:C0041228 African sleeping sickness African trypanosomiasis disease_ontology DOID:10112 sleeping sickness http://www.case.edu/EpSO.owl#SleepingSickness A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans. ICD10CM:B57.2 ICD9CM:086 ICD9CM:086.9 MESH:D014352 SNOMEDCT_US_2018_03_01:78940002 UMLS_CUI:C0041227 disease_ontology DOID:10113 trypanosomiasis A cardiovascular system disease that involves the heart's electrical conduction system. ICD9CM:426.6 UMLS_CUI:C0029630 heart rhythm disease disease_ontology DOID:10273 heart conduction disease A disease by infectious agent that results_in infection, has_material_basis_in Bacteria. https://www.ncbi.nlm.nih.gov/books/NBK83677/ ICD10CM:A49 ICD10CM:A49.9 MESH:D001424 NCI:C2890 SNOMEDCT_US_2018_03_01:87628006 UMLS_CUI:C0004623 Bacterial Infections disease_ontology DOID:104 bacterial infectious disease true A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills. https://www.ncbi.nlm.nih.gov/pubmed/28671982 MESH:D008607 NCI:C84392 SNOMEDCT_US_2018_03_01:1855002 SNOMEDCT_US_2018_03_01:91138005 UMLS_CUI:C0025362 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 Mental Retardation disease_ontology mental retardation DOID:1059 OMIM mapping submitted by NeuroDevNet. [LS]. intellectual disability http://www.case.edu/EpSO.owl#MentalRetardation https://www.psychiatryadvisor.com/home/topics/neurodevelopmental-disorder/intellectual-disabilities/managing-epilepsy-in-patients-with-intellectual-disability/ true true An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite. https://www.ncbi.nlm.nih.gov/pubmed/30562654 CSP2005:1248-3893 EFO:0001060 GARD:11998 ICD10CM:K90.0 ICD9CM:579.0 MESH:D002446 MTHICD9_2006:579.0 NCI:C26714 OMIM:607202 OMIM:609754 OMIM:611598 OMIM:612005 OMIM:612006 OMIM:612007 OMIM:612008 OMIM:612009 OMIM:612011 ORDO:555 SNOMEDCT_US_2018_03_01:23829007 UMLS_CUI:C0007570 celiac sprue coeliac disease idiopathic steatorrhea disease_ontology DOID:10608 Xref MGI. OMIM mapping confirmed by DO. [SN]. celiac disease true true A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. https://www.ncbi.nlm.nih.gov/pubmed/29213881 CSP2005:0485-6737 EFO:0000249 GARD:10254 ICD10CM:G30 ICD10CM:G30.9 ICD9CM:331.0 KEGG:05010 MESH:D000544 NCI:C2866 SNOMEDCT_US_2018_03_01:26929004 SNOMEDCT_US_2018_03_01:73768007 UMLS_CUI:C0002395 Alzheimer disease Alzheimers dementia disease_ontology DOID:10652 Xref MGI. OMIM mapping confirmed by DO. [SN]. Alzheimer's disease true true A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood. https://www.ncbi.nlm.nih.gov/pubmed/11864518 ICD10CM:N19 ICD9CM:586 MESH:D051437 NCI:C4376 SNOMEDCT_US_2018_03_01:42399005 UMLS_CUI:C0035078 renal failure disease_ontology DOID:1074 PRISM. kidney failure true An artery disease characterized by chronic elevated blood pressure in the arteries. https://www.ncbi.nlm.nih.gov/pubmed/31055731 CSP2005:0571-5243 CSP2005:4003-0017 EFO:0000537 ICD10CM:I10 ICD9CM:401-405.99 ICD9CM:997.91 MESH:D006973 NCI2004_11_17:C3117 NCI:C3117 SNOMEDCT_US_2018_03_01:38341003 UMLS_CUI:C0020538 HTN High blood pressure hyperpiesia vascular hypertensive disorder disease_ontology hypertensive disease DOID:10763 hypertension true true https://www.ncbi.nlm.nih.gov/pubmed/11104349 CSP2005:0723-5649 GARD:3603 GARD:7038 ICD10CM:Q02 ICD9CM:742.1 ICD9CM_2006:742.1 MESH:D008831 NCI:C85874 SNOMEDCT_US_2018_03_01:1829003 UMLS_CUI:C0025958 Microcephaly is a birth defect where a baby’s head is smaller than expected when compared to babies of the same sex and age. Babies with microcephaly often have smaller brains that might not have developed properly. Microcephalus microencephaly disease_ontology DOID:10907 OMIM mapping confirmed by DO. [SN]. microcephaly http://www.case.edu/EpSO.owl#Microcephaly true Microcephaly is a birth defect where a baby’s head is smaller than expected when compared to babies of the same sex and age. Babies with microcephaly often have smaller brains that might not have developed properly. https://www.cdc.gov/ncbddd/birthdefects/microcephaly.html A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information. DOID:4544 ICD10CM:R41.3 ICD9CM:294.0 MESH:D000647 MTHICD9_2006:294.0 NCI2004_11_17:C35764 NCI:C2867 SNOMEDCT_US_2018_03_01:3298001 SNOMEDCT_US_2018_03_01:48167000 SNOMEDCT_US_2018_03_01:78461004 UMLS_CUI:C0002622 UMLS_CUI:C0002625 Amnestic syndrome Korsakoff's psychosis or syndrome amnesia disease_ontology DOID:10914 amnestic disorder true An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions). ICD10CM:F42 ICD10CM:F42.8 ICD10CM:F42.9 ICD9CM:300.3 MESH:D009771 MTHICD9_2006:300.3 NCI:C88411 SNOMEDCT_US_2018_03_01:71478004 UMLS_CUI:C0028768 Anancastic neurosis obsessive compulsive disorder disease_ontology DOID:10933 obsessive-compulsive disorder true A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities. https://www.ncbi.nlm.nih.gov/pubmed/2912820 ICD10CM:F44.81 ICD9CM:300.14 ICD9CM_2006:300.14 MESH:D009105 NCI:C94330 SNOMEDCT_US_2018_03_01:31611000 UMLS_CUI:C0026773 Dissociative identity disorder disease_ontology DOID:10934 multiple personality disorder true A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated). DOID:4963 CSP2005:2483-7018 ICD10CM:F44.9 ICD10CM:F48.9 ICD9CM:300.15 ICD9CM:300.9 MESH:D004213 NCI:C92197 SNOMEDCT_US_2018_03_01:44376007 UMLS_CUI:C0012746 UMLS_CUI:C0041857 Dissociation is a psychological state that may vary in severity from mild detachment from immediate surroundings to more severe detachment and apparent unresponsiveness. In mild cases, dissociation can be regarded as a coping mechanism in seeking to minimize or tolerate stress, conflict or boredom. If a coping response to stress, the dissociative state may be preceded by a phase where anxiety symptoms (e.g. hyperventilation) are apparent. More severe dissociative states are seen in dissociative disorders and may include depersonalization and amnesia. Dissociative disorders are sometimes triggered by traumatic experience, but may be preceded by only minor stress or there may be no apparent trigger. dissociative disease dissociative reaction dissociative state disease_ontology DOID:10935 dissociative disorder true Dissociation is a psychological state that may vary in severity from mild detachment from immediate surroundings to more severe detachment and apparent unresponsiveness. In mild cases, dissociation can be regarded as a coping mechanism in seeking to minimize or tolerate stress, conflict or boredom. If a coping response to stress, the dissociative state may be preceded by a phase where anxiety symptoms (e.g. hyperventilation) are apparent. More severe dissociative states are seen in dissociative disorders and may include depersonalization and amnesia. Dissociative disorders are sometimes triggered by traumatic experience, but may be preceded by only minor stress or there may be no apparent trigger. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#dissociative A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age. DOID:1093 https://www.ncbi.nlm.nih.gov/pubmed/28749241 EFO:0003888 MESH:D001289 NCI:C35092 OMIM:143465 OMIM:608903 OMIM:608904 OMIM:608905 OMIM:608906 OMIM:612311 OMIM:612312 UMLS_CUI:C0041671 ADHD attention deficit disorder hyperkinetic disorder disease_ontology DOID:1094 Xref MGI. attention deficit hyperactivity disorder true true A central nervous system disease that is characterized by the complete paralysis of half of the body. https://www.ncbi.nlm.nih.gov/pubmed/28043687 GARD:6583 ICD9CM:343.4 MESH:D006429 MTHICD9_2006:343.4 SNOMEDCT_US_2018_03_01:1593000 UMLS_CUI:C0392550 Infantile hemiplegia Postnatal infantile hemiplegia disease_ontology DOID:10969 hemiplegia true A dissociative disorder in which the sufferer is affected by persistent or recurrent feelings of depersonalization and/or derealization. https://www.ncbi.nlm.nih.gov/pubmed/31437864 GARD:6260 ICD9CM:300.6 MESH:D003861 MTHICD9_2006:300.6 NCI:C94331 SNOMEDCT_US_2018_03_01:70764005 UMLS_CUI:C0683416 Depersonalization Neurotic derealization disease_ontology DOID:11038 depersonalization disorder true true A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood. GARD:6733 ICD10CM:E20 ICD10CM:E20.9 ICD9CM:252.1 MESH:D007011 NCI:C78350 OMIM:146200 OMIM:307700 ORDO:2238 SNOMEDCT_US_2018_03_01:36976004 UMLS_CUI:C0020626 disease_ontology DOID:11199 Xref MGI. hypoparathyroidism https://www.epilepsy.com/learn/professionals/co-existing-disorders/metabolic-disorders/hypoparathyroidism true An endocrine system disease that is located_in the parathyroid gland. ICD10CM:E21.5 ICD9CM:252 ICD9CM:252.9 MESH:D010279 NCI:C26844 SNOMEDCT_US_2018_03_01:73132005 UMLS_CUI:C0030517 disease of parathyroid glands disease_ontology DOID:11201 parathyroid gland disease A phobic disorder that involves social anxiety occurring only in specific public or social situations, interactions with others or being evaluated or scrutinized by other people. https://www.ncbi.nlm.nih.gov/pubmed/28360564 ICD10CM:F40.1 ICD10CM:F40.10 ICD9CM:300.23 MESH:D000072861 NCI:C34927 SNOMEDCT_US_2018_03_01:25501002 UMLS_CUI:C0031572 disease_ontology DOID:11257 social phobia true A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system. ICD10CM:I77.0 NCI2004_11_17:C4297 NCI:C2882 SNOMEDCT_US_2018_03_01:11071001 SNOMEDCT_US_2018_03_01:14156004 UMLS_CUI:C0334533 Arteriovenous malformations are abnormal blood vessels that shunt blood directly from the arterial to the venous circulation.There is a risk of intracranial hemorrhage, estimated at 2-4% per year, which can be limited or catastrophic. Management is therefore directed at reducing mortality and morbidity (neurological and cognitive impairment) from hemorrhage. Arteriovenous hemangioma Cirsoid aneurysm Racemose Angioma Racemose aneurysm Racemose hemangioma disease_ontology DOID:11294 arteriovenous malformation true Arteriovenous malformations are abnormal blood vessels that shunt blood directly from the arterial to the venous circulation.There is a risk of intracranial hemorrhage, estimated at 2-4% per year, which can be limited or catastrophic. Management is therefore directed at reducing mortality and morbidity (neurological and cognitive impairment) from hemorrhage. https://www.epilepsydiagnosis.org/aetiology/arteriovenous-malformation-overview.html A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs. CSP2005:2024-3715 GARD:7607 ICD10CM:D80-D89 ICD10CM:D86 ICD10CM:D86.9 ICD9CM:135 MESH:D012507 NCI:C34995 ORDO:797 SNOMEDCT_US_2018_03_01:31541009 UMLS_CUI:C0036202 Boeck sarcoid lymphogranulomatosis disease_ontology DOID:11335 sarcoidosis https://www.epilepsy.com/learn/professionals/co-existing-disorders/inflammatory-disorders true A cardiovascular system disease that involves the heart. ICD10CM:I51.9 ICD9CM:429.9 MESH:D006331 NCI:C3079 SNOMEDCT_US_2018_03_01:56265001 UMLS_CUI:C0018799 Cardiac Disorders disease_ontology DOID:114 heart disease https://www.epilepsy.com/learn/professionals/co-existing-disorders/cardiac-disorders true ICD9CM:337.1 UMLS_CUI:C0154691 autonomic nervous system disorder disease_ontology DOID:11465 autonomic nervous system disease A lower respiratory tract disease that affects the airways leading into the lungs, which is caused due to inflammation of the bronchi and bronchioles, infection, or blockage. DOID:1175 DOID:12322 MESH:D001982 SNOMEDCT_US_2018_03_01:41427001 UMLS_CUI:C0006261 Bronchospasm disease_ontology DOID:1176 bronchial disease An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods. allergic disease ICD10CM:T78.40 MESH:D006967 NCI:C3114 SNOMEDCT_US_2018_03_01:21957007 SNOMEDCT_US_2018_03_01:91232002 UMLS_CUI:C0020517 allergic disease hypersensitivity hypersensitivity reaction type I disease disease_ontology DOID:1205 allergic hypersensitivity disease An autoimmune hypersensitivity disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels. GARD:7880 ICD10CM:M31.3 ICD10CM:M31.30 ICD9CM:446.4 MESH:D014890 MTHICD9_2006:446.4 NCI:C3444 OMIM:608710 SNOMEDCT_US_2018_03_01:23782005 UMLS_CUI:C3495801 Necrotizing respiratory granulomatosis Wegener granulomatosis, formerly disease_ontology DOID:12132 granulomatosis with polyangiitis https://www.epilepsy.com/learn/professionals/challenging-cases/granulomatosis-polyangiitis true A learning disability involving a math disability can cause such difficulties as learning math concepts (such as quantity, place value, and time), difficulty memorizing math facts, difficulty organizing numbers, and understanding how problems are organized on the page. MESH:D060705 Mathematics disorder disorder of arithmetical skills disease_ontology DOID:12568 dyscalculia https://www.epilepsydiagnosis.org/seizure/cognitive-overview.html true A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. DOID:73 ICD9CM:429.2 MESH:D002318 NCI:C2931 SNOMEDCT_US_2018_03_01:49601007 UMLS_CUI:C0007222 disease of subdivision of hemolymphoid system disease_ontology DOID:1287 cardiovascular system disease A central nervous system disease that results in the progressive deterioration of function or structure of neurons. DOID:4874 ICD10CM:G31.9 MESH:D019636 NCI2004_11_17:C4802 NCI:C27090 UMLS_CUI:C0524851 UMLS_CUI:C1285162 Neurodegenerative disease degenerative disease disease_ontology DOID:1289 neurodegenerative disease An autoimmune hypersensitivity disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva. DOID:416 CSP2005:0729-8405 GARD:10252 ICD10CM:M35.0 ICD10CM:M35.00 ICD9CM:710.2 MESH:D012859 NCI:C26883 NCI:C70647 OMIM:270150 SNOMEDCT_US_2018_03_01:83901003 UMLS_CUI:C0086981 UMLS_CUI:C1527336 Sicca syndrome Sjogren syndrome xerodermosteosis disease_ontology DOID:12894 OMIM mapping confirmed by DO. [LS]. Sjogren's syndrome https://www.epilepsy.com/learn/professionals/co-existing-disorders/inflammatory-disorders true An amnestic disorder that is characterized by temporary but almost total disruption of short-term memory with a range of problems accessing older memories. https://www.ncbi.nlm.nih.gov/pubmed/3579680 GARD:8172 ICD10CM:G45.4 ICD9CM:437.7 MESH:D020236 NCI:C85198 UMLS_CUI:C0338591 disease_ontology DOID:13027 transient global amnesia true A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior. https://www.ncbi.nlm.nih.gov/pubmed/20161538 ICD9CM:290.8 MESH:D003704 UMLS_CUI:C0154319 disease_ontology DOID:1307 dementia true A cystitis characterized by a sudden onset or severe symptoms. https://www.ncbi.nlm.nih.gov/pubmed/30279715 ICD10CM:N30.0 ICD9CM:595.0 NCI:C26934 SNOMEDCT_US_2018_03_01:68226007 UMLS_CUI:C0149523 urinary tract infection disease_ontology DOID:13148 acute cystitis true A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain. DOID:2125 DOID:2126 DOID:3543 DOID:6649 DOID:911 https://www.ncbi.nlm.nih.gov/pubmed/32034533 CSP2005:2006-2736 ICD10CM:C71 ICD10CM:C71.9 ICD9CM:191 ICD9CM:191.9 ICD9CM:239.6 MESH:D001932 NCI2004_11_17:C2907 NCI2004_11_17:C3568 NCI2004_11_17:C4952 NCI2004_11_17:C4954 NCI2004_11_17:C5115 NCI2004_11_17:C7710 NCI:C2907 NCI:C3568 NCI:C4952 NCI:C4954 NCI:C5115 NCI:C7710 SNOMEDCT_US_2018_03_01:93727008 UMLS_CUI:C0006118 UMLS_CUI:C0153633 UMLS_CUI:C0220624 UMLS_CUI:C0750974 UMLS_CUI:C0750979 UMLS_CUI:C1334557 BT - Brain tumour adult brain tumor adult malignant brain neoplasm brain neoplasm brain neoplasm, adult malignant brain tumour malignant primary brain neoplasm malignant primary brain tumor malignant tumor of Brain malignant tumor of adult brain neoplasm of brain primary brain neoplasm primary brain tumor primary malignant neoplasm of brain tumor of the Brain disease_ontology DOID:1319 brain cancer true An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. GARD:10353 ICD10CM:E80.20 ICD9CM:277.1 ICD9CM_2006:277.1 MESH:D011164 MTHICD9_2006:277.1 NCI:C97096 SNOMEDCT_US_2018_03_01:29094004 SNOMEDCT_US_2018_03_01:86292002 UMLS_CUI:C0032708 Hematoporphyria Porphyrinopathy disorder of porphyrin and hem metabolism disorder of porphyrin metabolism disease_ontology DOID:13268 porphyria A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin. DOID:9996 https://www.ncbi.nlm.nih.gov/pubmed/27531853 ICD10CM:E16.9 MESH:D046768 NCI:C4375 SNOMEDCT_US_2018_03_01:42681006 SNOMEDCT_US_2018_03_01:66149005 UMLS_CUI:C0027773 Islet cell hyperplasia nesidioblastosis persistent hyperinsulinemia hypoglycemia of infancy disease_ontology DOID:13317 OMIM mapping confirmed by DO. [SN]. hyperinsulinemic hypoglycemia true A learning disability involing difficulty reading resulting primarily from neurological factors which affect any part of the reading process. ICD9CM:315.09 UMLS_CUI:C0154631 disease_ontology DOID:13365 reading disorder A syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body. CSP2005:0727-2535 GARD:7830 ICD10CM:Q85.1 ICD9CM:759.5 MESH:D014402 MTHICD9_2006:759.5 NCI2004_11_17:C3424 NCI:C3424 OMIM:PS191100 SNOMEDCT_US_2018_03_01:7199000 UMLS_CUI:C0041341 Tuberous sclerosis, a genetic disorder, is a common cause of malformations of cortical development, with a birth incidence of 1:6000 births. It is a disorder caused by a defect in the mTOR pathway, an intracellular pathway that regulates cell growth and differentiation, resulting in abnormalities in a number of organs, including the brain, skin, heart, kidneys and eyes. Bourneville's disease Epiloia Tuberose sclerosis Tuberous sclerosis syndrome cerebral sclerosis disease_ontology DOID:13515 OMIM mapping confirmed by DO. [LS]. tuberous sclerosis true Tuberous sclerosis, a genetic disorder, is a common cause of malformations of cortical development, with a birth incidence of 1:6000 births. It is a disorder caused by a defect in the mTOR pathway, an intracellular pathway that regulates cell growth and differentiation, resulting in abnormalities in a number of organs, including the brain, skin, heart, kidneys and eyes. https://www.epilepsydiagnosis.org/aetiology/tuberous-sclerosis-overview.html A malaria that involves neurologic damage resulting from blockage of the blood vessels, caused due to the infection of the red blood cells by Plasmodium species. https://www.ncbi.nlm.nih.gov/books/NBK83677/ ICD10CM:B50.0 MESH:D016779 NCI:C128373 SNOMEDCT_US_2018_03_01:53622003 UMLS_CUI:C0024534 Plasmodium falciparum in sub-Saharan Africa can cause neurologic complications in half of affected individuals. This infection is the most important cause of epileptic seizures in these regions. Cerebral malaria with related coma may be fatal, especially in children. Plasmodium vivax in Asia causes similar neurological complications and epilepsy. Malarial encephalitis disease_ontology DOID:14069 cerebral malaria true true Plasmodium falciparum in sub-Saharan Africa can cause neurologic complications in half of affected individuals. This infection is the most important cause of epileptic seizures in these regions. Cerebral malaria with related coma may be fatal, especially in children. Plasmodium vivax in Asia causes similar neurological complications and epilepsy. https://www.epilepsydiagnosis.org/aetiology/infectious-groupoverview.html A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability. CSP2005:1254-8068 GARD:10247 ICD10CM:Q90 ICD10CM:Q90.9 ICD9CM:758.0 MESH:D004314 MTHICD9_2006:758.0 NCI2004_11_17:C2993 NCI:C2993 OMIM:190685 ORDO:870 SNOMEDCT_US_2018_03_01:41040004 UMLS_CUI:C0013080 Down syndrome is a common chromosomal disorder with well-recognized dysmorphic features, epilepsy occurs in approximately 10% of individuals and age of seizure onset is bimodal with 40% having seizures before 1 year of age (commonly epileptic spasms) and 40% having seizures from the third decade of life. All major seizure types have been described in children with Down syndrome including focal seizures, epileptic spasms, myoclonic and generalized tonic-clonic seizures. Phenotypes seen may also include reflex (startle-induced) seizures. Co-existing acquired structural brain abnormalities may occur, as a consequence of congenital cardiac disease. Complete trisomy 21 syndrome Down's syndrome Down's syndrome - trisomy 21 Downs syndrome G Trisomy trisomy 21 syndrome disease_ontology DOID:14250 OMIM mapping confirmed by DO. [SN]. Down syndrome true true Down syndrome is a common chromosomal disorder with well-recognized dysmorphic features, epilepsy occurs in approximately 10% of individuals and age of seizure onset is bimodal with 40% having seizures before 1 year of age (commonly epileptic spasms) and 40% having seizures from the third decade of life. All major seizure types have been described in children with Down syndrome including focal seizures, epileptic spasms, myoclonic and generalized tonic-clonic seizures. Phenotypes seen may also include reflex (startle-induced) seizures. Co-existing acquired structural brain abnormalities may occur, as a consequence of congenital cardiac disease. https://www.epilepsydiagnosis.org/aetiology/chromosomal-abnormalities-overview.html#trisomy21 https://www.ncbi.nlm.nih.gov/pubmed/25387857 https://www.ncbi.nlm.nih.gov/pubmed/27629553 CSP2005:1849-6833 GARD:10739 ICD10CM:E75.4 MESH:D009472 NCI:C61257 OMIM:PS256730 ORDO:216 ORDO:79262 SNOMEDCT_US_2018_03_01:42012007 UMLS_CUI:C0027877 hereditary ceroid lipofuscinosis disease_ontology DOID:14503 Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS]. neuronal ceroid lipofuscinosis true A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells. DOID:0050442 DOID:0050443 DOID:14770 GARD:13334 ICD10CM:E75.24 ICD10CM:E75.249 MESH:D009542 NCI:C61269 SNOMEDCT_US_2018_03_01:58459009 UMLS_CUI:C0028064 Sphingomyelinase Deficiency Disease lipoid histiocytosis sphingomyelin lipidosis disease_ontology DOID:14504 OMIM mapping confirmed by DO. [SN]. Niemann-Pick disease https://www.epilepsy.com/learn/professionals/co-existing-disorders/metabolic-disorders/inborn-errors/niemann-pick-disease true A disease that is characterized by abnormally rapid cell division. DOID:0000818 cell process disease neoplasm disease_ontology DOID:14566 disease of cellular proliferation A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture. ICD10CM:F99 ICD10CM:F99-F99 MESH:D001523 NCI:C2893 SNOMEDCT_US_2018_03_01:74732009 UMLS_CUI:C0004936 disease_ontology DOID:150 disease of mental health A disease of mental health that involve long-term patterns of thoughts and behaviors that cause serious problems with relationships and work. ICD9CM:301.8 ICD9CM:301.89 UMLS_CUI:C0029707 character disorder disease_ontology DOID:1510 personality disorder A disease of mental health that affects cognitive functions including memory processing, perception and problem solving. https://www.ncbi.nlm.nih.gov/pubmed/20161538 ICD10CM:F09 MESH:D019965 NCI2004_11_17:C34870 NCI:C34870 UMLS_CUI:C0029227 cognitive disease disease_ontology Organic Mental disorder DOID:1561 cognitive disorder true A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body. https://www.ncbi.nlm.nih.gov/pubmed/26423537 ICD10CM:B35-B49 ICD10CM:B49 ICD9CM:110-118.99 MESH:D009181 NCI:C3245 SNOMEDCT_US_2018_03_01:3218000 UMLS_CUI:C0026946 mycosis disease_ontology mycoses DOID:1564 fungal infectious disease true A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences. ICD10CM:F10.1 ICD9CM:305.0 ICD9CM:305.00 MESH:D000437 NCI:C20701 SNOMEDCT_US_2018_03_01:15167005 UMLS_CUI:C0085762 Alcohol Abuse Ethanol abuse alcohol abuse disease_ontology DOID:1574 alcohol use disorder http://www.case.edu/EpSO.owl#AlcoholAbuse true An autoimmune hypersensitivity disease that involves inflammation or pain in the muscles, joints, or fibrous tissue. disease_ontology DOID:1575 rheumatic disease A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm. DOID:3226 https://www.ncbi.nlm.nih.gov/pubmed/20161538 ICD10CM:J96-J99 ICD10CM:J98 ICD9CM:510-519.99 ICD9CM:519 UMLS_CUI:C0029582 disease_ontology DOID:1579 respiratory system disease true A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages. disease_ontology DOID:16 integumentary system disease A bladder disease that is characterized by inflammation of the bladder. ICD10CM:N30 ICD10CM:N30.9 ICD9CM:595 ICD9CM:595.9 MESH:D003556 NCI:C26738 SNOMEDCT_US_2018_03_01:38822007 UMLS_CUI:C0010692 disease_ontology DOID:1679 cystitis CSP2005:0724-8315 ICD10CM:Q24.9 ICD9CM:746.9 MESH:D006330 NCI2004_11_17:C34666 NCI:C34666 SNOMEDCT_US_2018_03_01:13213009 UMLS_CUI:C0018798 Congenital heart defects, or diseases, are problems with the heart’s structure that are present at birth. They may change the normal flow of blood through the heart. Congenital heart defects are the most common type of birth defect. Congenital Heart Defects Congenital anomaly of heart Heart Malformation congenital heart defect heart defect disease_ontology Heart-congenital defect DOID:1682 OMIM mapping confirmed by DO. [SN]. congenital heart disease https://www.epilepsy.com/learn/professionals/co-existing-disorders/cardiac-disorders/congenital-heart-disease true Congenital heart defects, or diseases, are problems with the heart’s structure that are present at birth. They may change the normal flow of blood through the heart. Congenital heart defects are the most common type of birth defect. https://www.nhlbi.nih.gov/health-topics/congenital-heart-defects A disease of anatomical entity that occurs in the muscular and/or skeletal system. https://www.ncbi.nlm.nih.gov/pubmed/20161538 MESH:D009140 NCI:C107377 SNOMEDCT_US_2018_03_01:928000 UMLS_CUI:C0026857 disease_ontology DOID:17 musculoskeletal system disease true A disease of mental health where symptoms are deliberately produced, feigned or exaggerated in order to falsely demonstrate the presence of an illness. ICD10CM:F68.11 ICD9CM:300.16 SNOMEDCT_US_2018_03_01:31122002 UMLS_CUI:C0015481 Fabricated / factitious illness may be presented as epilepsy and may be misdiagnosed as such because of the reliance on truthful accounts of witnesses to make a clinical diagnosis of epilepsy. If the witness is making up a story this may not be easily apparent to the clinician. There may be complex psychological, psychosocial and family reasons behind this illness behaviour or it may simply be because the diagnosis of epilepsy may lead to financial benefits. The illness behaviour may be on the part of an adult who presents themselves as having seizures or a carer who presents their child as affected. Factitious illness may be suspected if there are aspects of the clinical history that seem inconsistent with an epilepsy diagnosis, if the seizures have only been witnessed by one individual, if frequent seizures are accompanied by normal EEG (including prolonged studies) and if seizures remain refractory on history to medication however there is no evidence of behavioural or cognitive comorbidity in the child. Fabricated / factitious illness Munchausen syndrome disease_ontology Factitious seizures Fictitious epilepsy DOID:1766 factitious disorder https://www.epilepsydiagnosis.org/epilepsy-imitators.html#fabricated https://www.epilepsysociety.org.uk/non-epileptic-seizures#.XJhlBXduLIV true Fabricated / factitious illness may be presented as epilepsy and may be misdiagnosed as such because of the reliance on truthful accounts of witnesses to make a clinical diagnosis of epilepsy. If the witness is making up a story this may not be easily apparent to the clinician. There may be complex psychological, psychosocial and family reasons behind this illness behaviour or it may simply be because the diagnosis of epilepsy may lead to financial benefits. The illness behaviour may be on the part of an adult who presents themselves as having seizures or a carer who presents their child as affected. Factitious illness may be suspected if there are aspects of the clinical history that seem inconsistent with an epilepsy diagnosis, if the seizures have only been witnessed by one individual, if frequent seizures are accompanied by normal EEG (including prolonged studies) and if seizures remain refractory on history to medication however there is no evidence of behavioural or cognitive comorbidity in the child. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#fabricated A somatoform disorder that involves numbness, blindness, paralysis or fits without a neurological cause. https://www.ncbi.nlm.nih.gov/books/NBK2609/ GARD:6191 ICD10CM:F44 ICD9CM:300.11 MESH:D003291 MTHICD9_2006:300.11 SNOMEDCT_US_2018_03_01:20734000 SNOMEDCT_US_2018_03_01:44376007 SNOMEDCT_US_2018_03_01:89239005 UMLS_CUI:C0009946 Conversion Hysterical Neurosis Conversion hysteria or reaction Hysterical neurosis, conversion type disease_ontology DOID:1768 conversion disorder true A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart. DOID:0000405 DOID:2403 DOID:2869 DOID:324 DOID:325 DOID:45 ICD10CM:I72.9 ICD9CM:442.9 MESH:D000783 MESH:D014652 MESH:D020758 MESH:D020760 NCI:C26693 NCI:C35117 SNOMEDCT_US_2018_03_01:27550009 SNOMEDCT_US_2018_03_01:85659009 UMLS_CUI:C0002940 UMLS_CUI:C0042373 UMLS_CUI:C0752127 UMLS_CUI:C0752130 vascular tissue disease disease_ontology DOID:178 vascular disease A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra. DOID:579 NCI2004_11_17:C27599 NCI:C27599 UMLS_CUI:C1335051 Non-neoplastic urinary tract disease urinary tract disease disease_ontology DOID:18 urinary system disease A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years. CSP2005:0485-7316 MESH:D004832 NCI:C3023 SNOMEDCT_US_2018_03_01:16757004 SNOMEDCT_US_2018_03_01:79631006 UMLS_CUI:C0014553 Childhood absence epilepsy is a genetic/idiopathic generalized epilepsy that should be considered in an otherwise normal child with multiple daily absence seizures associated with 2.5 - 3.5 Hz generalized spike-and-wave. Absence seizures are provoked by hyperventilation. Between 8 and 12 years of age the distinction between the clinical syndromes of juvenile absence epilepsy and childhood absence epilepsy depends on the frequency of absence seizures. petit mal seizure pyknolepsy disease_ontology absence seizure DOID:1825 childhood absence epilepsy http://www.case.edu/EpSO.owl#ChildhoodAbsenceEpilepsy true true true Childhood absence epilepsy is a genetic/idiopathic generalized epilepsy that should be considered in an otherwise normal child with multiple daily absence seizures associated with 2.5 - 3.5 Hz generalized spike-and-wave. Absence seizures are provoked by hyperventilation. Between 8 and 12 years of age the distinction between the clinical syndromes of juvenile absence epilepsy and childhood absence epilepsy depends on the frequency of absence seizures. https://www.epilepsydiagnosis.org/syndrome/cae-overview.html A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions. EFO:0000474 ICD10CM:G40.9 ICD10CM:G40.909 ICD9CM:345.9 MESH:D004827 NCI:C3020 SNOMEDCT_US_2018_03_01:84757009 UMLS_CUI:C0014544 epilepsy syndrome epileptic syndrome disease_ontology DOID:1826 epilepsy http://www.case.edu/EpSO.owl#Epilepsy An epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain. https://www.ncbi.nlm.nih.gov/books/NBK546611/ MESH:D004829 NCI:C3021 OMIM:600669 SNOMEDCT_US_2018_03_01:19598007 UMLS_CUI:C0014548 Generalised epilepsy disease_ontology DOID:1827 Xref MGI. idiopathic generalized epilepsy https://www.epilepsy.com/learn/professionals/about-epilepsy-seizures/idiopathic-generalized-epilepsies true true A cranial nerve disease that is located_in the optic nerve. CSP2005:2042-6601 MESH:D009901 NCI:C79698 SNOMEDCT_US_2018_03_01:77157004 UMLS_CUI:C0029132 disorder of the second nerve optic nerve disorder optic neuropathy disease_ontology DOID:1891 optic nerve disease CSP2005:1254-8437 GARD:8705 ICD10CM:Q98.0 ICD10CM:Q98.4 ICD9CM:758.7 MESH:D007713 MTHICD9_2006:758.7 NCI2004_11_17:C34752 NCI:C34752 SNOMEDCT_US_2018_03_01:22053006 UMLS_CUI:C0022735 Klinefelter's syndrome is a common sex chromosomal abnormality and the most common cause of male hypogonadism. This syndrome is characterized by cognitive and behavioral dysfunction and hypogonadism. Seizures usually start between 3 months and 3 years of age and are typically well controlled with anti-seizure medication. Variable electroclinical characteristics may be seen from patient to patient, however generalized seizures (absence, tonic-clonic) are common seizure types. This disorder is diagnosed on routine karyotype examination. Hypogonadotropic Hypogonadism Klinefelter syndrome XXY syndrome XXY trisomy kleinfelters syndrome (xxy) disease_ontology DOID:1921 No OMIM mapping, confirmed by DO. [LS]. Klinefelter's syndrome true Klinefelter's syndrome is a common sex chromosomal abnormality and the most common cause of male hypogonadism. This syndrome is characterized by cognitive and behavioral dysfunction and hypogonadism. Seizures usually start between 3 months and 3 years of age and are typically well controlled with anti-seizure medication. Variable electroclinical characteristics may be seen from patient to patient, however generalized seizures (absence, tonic-clonic) are common seizure types. This disorder is diagnosed on routine karyotype examination. https://www.epilepsydiagnosis.org/aetiology/chromosomal-abnormalities-overview.html#kleinfelters A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver. GARD:8233 ICD10CM:E75.22 MESH:D005776 NCI:C61268 ORDO:355 SNOMEDCT_US_2018_03_01:2859005 SNOMEDCT_US_2018_03_01:62201009 UMLS_CUI:C0017205 Gaucher disease acid beta-glucosidase deficiency glocucerebrosidase deficiency glucosylceramide beta-glucosidase deficiency kerasin thesaurismosis disease_ontology DOID:1926 Xref MGI. OMIM mapping confirmed by DO. [SN]. Gaucher's disease https://www.epilepsy.com/learn/professionals/co-existing-disorders/metabolic-disorders/inborn-errors/gauchers-disease true A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates. GARD:7672 ICD10CM:E75.3 MESH:D013106 NCI:C117254 SNOMEDCT_US_2018_03_01:58459009 UMLS_CUI:C0037899 Sphingolipidosis sphingolipidoses disease_ontology DOID:1927 sphingolipidosis A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance. CSP2005:4008-0043 GARD:5810 ICD10CM:Q93.5 MESH:D017204 NCI:C75462 OMIM:105830 SNOMEDCT_US_2018_03_01:76880004 UMLS_CUI:C0162635 Angelman syndrome results from deletion or inactivation of genes on the maternally-inherited chromosome 15q11-q13 region, while the paternal copy, which may be of normal sequence, is imprinted and therefore silenced. The patient has severe intellectual impairment, developmental delay, epilepsy, sleep disorder, jerky movements (especially hand-flapping), ataxia, frequent laughter or smiling, and usually a happy demeanor. Dysmorphic features are well recognized: microcephaly, prominent mandible, pointed chin, protruding tongue, and fair hair and complexion with blue eyes. Seizures are seen in up to 90% and usually start under the age of 2 years, commonly with generalized seizure types (generalized tonic-clonic, atypical absences, myoclonic seizures). Seizures may be aggravated by fever and by certain anti-seizure medications such as carbamazepine and lamotrigine. The EEG is usually very abnormal, and more abnormal than clinically expected. High amplitude 2-3 Hz frontal predominant activity may be seen; symmetrical 4-6 Hz high voltage activity or 3-6 Hz occipital activity overlaid with spikes and sharp waves and associated with eye closure are other patterns that occur. A CGH microarray is usually the most useful diagnostic test. happy puppet syndrome puppetlike syndrome disease_ontology DOID:1932 OMIM mapping confirmed by DO. [SN]. Angelman syndrome https://www.ilae.org/guidelines/definition-and-classification true Angelman syndrome results from deletion or inactivation of genes on the maternally-inherited chromosome 15q11-q13 region, while the paternal copy, which may be of normal sequence, is imprinted and therefore silenced. The patient has severe intellectual impairment, developmental delay, epilepsy, sleep disorder, jerky movements (especially hand-flapping), ataxia, frequent laughter or smiling, and usually a happy demeanor. Dysmorphic features are well recognized: microcephaly, prominent mandible, pointed chin, protruding tongue, and fair hair and complexion with blue eyes. Seizures are seen in up to 90% and usually start under the age of 2 years, commonly with generalized seizure types (generalized tonic-clonic, atypical absences, myoclonic seizures). Seizures may be aggravated by fever and by certain anti-seizure medications such as carbamazepine and lamotrigine. The EEG is usually very abnormal, and more abnormal than clinically expected. High amplitude 2-3 Hz frontal predominant activity may be seen; symmetrical 4-6 Hz high voltage activity or 3-6 Hz occipital activity overlaid with spikes and sharp waves and associated with eye closure are other patterns that occur. A CGH microarray is usually the most useful diagnostic test. https://www.epilepsydiagnosis.org/aetiology/chromosomal-abnormalities-overview.html#angelman A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance. DOID:1968 https://www.ncbi.nlm.nih.gov/pubmed/32149989 ICD10CM:G80 ICD10CM:G80.9 MESH:D002547 NCI:C34460 SNOMEDCT_US_2018_03_01:1178005 UMLS_CUI:C0007789 infantile cerebral palsy disease_ontology DOID:1969 cerebral palsy http://www.case.edu/EpSO.owl#CerebralPalsy true A cognitive disorder that involves an excessive, irrational dread of everyday situations. DOID:12884 ICD10CM:F41.9 MESH:D001008 NCI:C2878 OMIM:607834 SNOMEDCT_US_2018_03_01:65673007 UMLS_CUI:C0003469 anxiety anxiety state disease_ontology DOID:2030 anxiety disorder A specific developmental disorder that involves specific developmental disorders of speech and language. ICD10CM:F80.9 MESH:D003147 NCI:C2958 SNOMEDCT_US_2018_03_01:74825008 UMLS_CUI:C0009460 disease_ontology DOID:2033 communication disorder An epilepsy syndrome that is characterised by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response. MESH:D004828 NCI:C122812 SNOMEDCT_US_2018_03_01:29753000 SNOMEDCT_US_2018_03_01:67139004 UMLS_CUI:C0014547 Patients with focal epilepsy have focal seizure types, and may have typical interictal and/or ictal EEG findings that accompany focal seizure types (such as focal sharp waves or focal interictal slowing). Imaging showing a focal structural brain abnormality may be supportive, although patients with genetic etiologies and normal imaging can also have focal epilepsy. Focal epilepsies may be unifocal, multifocal or hemispheric. localisation-related epilepsy partial epilepsy single focal epilepsy disease_ontology DOID:2234 focal epilepsy http://www.case.edu/EpSO.owl#FocalEpilepsy true Patients with focal epilepsy have focal seizure types, and may have typical interictal and/or ictal EEG findings that accompany focal seizure types (such as focal sharp waves or focal interictal slowing). Imaging showing a focal structural brain abnormality may be supportive, although patients with genetic etiologies and normal imaging can also have focal epilepsy. Focal epilepsies may be unifocal, multifocal or hemispheric. https://www.epilepsydiagnosis.org/epilepsy/focal-epilepsy-groupoverview.html A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death. DOID:2315 https://www.ncbi.nlm.nih.gov/pubmed/18777476 ICD10CM:G45.9 MESH:D002546 NCI:C50781 SNOMEDCT_US_2018_03_01:38609002 UMLS_CUI:C0007787 TIA TIA - Transient ischaemic attack TRANSIENT ISCHEMIC ATTACK Transient cerebral ischaemia Transient cerebral ischemia Transient ischemic attacks transient ischemic attack disease_ontology DOID:224 transient cerebral ischemia true A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality. MESH:D013577 NCI:C28193 SNOMEDCT_US_2018_03_01:64572001 UMLS_CUI:C0039082 disease_ontology DOID:225 syndrome An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand. https://www.ncbi.nlm.nih.gov/pubmed/9532709 MESH:D002545 SNOMEDCT_US_2018_03_01:11890005 UMLS_CUI:C0007786 Ischaemic encephalopathy Ischemic encephalopathy cerebral ischemia ischemic brain disease disease_ontology DOID:2316 brain ischemia true A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring. https://www.ncbi.nlm.nih.gov/pubmed/30562654 CSP2005:2042-2324 EFO:0003885 GARD:10255 ICD10CM:G35 ICD9CM:340 MESH:D009103 NCI:C3243 OMIM:612594 OMIM:612595 OMIM:612596 SNOMEDCT_US_2018_03_01:24700007 UMLS_CUI:C0026769 Generalized multiple sclerosis insular sclerosis disease_ontology DOID:2377 OMIM mapping confirmed by DO. [LS]. multiple sclerosis true A central nervous system benign neoplasm that has_material_basis_in mature neurons, and is classified by the absence of neoplastic glial cells. https://www.ncbi.nlm.nih.gov/pubmed/21741275 GARD:10638 MESH:D005729 NCI:C6934 SNOMEDCT_US_2018_03_01:53801007 disease_ontology DOID:2426 gangliocytoma http://www.case.edu/EpSO.owl#Gangliocytoma true A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality. EFO:0000677 ICD9CM:298.8 UMLS_CUI:C0029516 mental or behavioural disorder disease_ontology DOID:2468 psychotic disorder https://www.ncbi.nlm.nih.gov/pubmed/15347872 ICD9CM:742 UMLS_CUI:C0158538 Congenital Neurological Deficit congenital neurologic anomaly disease_ontology DOID:2490 congenital nervous system abnormality http://www.case.edu/EpSO.owl#CongenitalNeurologicalDeficit true GARD:6855 ICD10CM:G40.8 MESH:D018887 NCI:C84806 OMIM:245570 ORDO:98818 UMLS_CUI:C0282512 Landau Kleffner syndrome is characterized by subacute onset of acquired aphasia in a child with normal previous development and cognition. Seizures may not occur in all cases, and when present are infrequent and self-limiting. However, there is a high risk of significant residual language impairment. acquired epileptic aphasia disease_ontology DOID:2538 OMIM mapping confirmed by DO. [SN]. Landau-Kleffner syndrome true Landau Kleffner syndrome is characterized by subacute onset of acquired aphasia in a child with normal previous development and cognition. Seizures may not occur in all cases, and when present are infrequent and self-limiting. However, there is a high risk of significant residual language impairment. https://www.epilepsydiagnosis.org/syndrome/lks-overview.html A variable age at onset electroclinical syndrome that is consistently induced by identifiable and objective-specific triggers, which may be an afferent stimulus or by the patient's own activity. MESH:D020195 MTHICD9_2006:345.5 NCI:C85041 SNOMEDCT_US_2018_03_01:79745005 UMLS_CUI:C0270857 Reflex epilepsies are characterized by the presence of reflex seizures and the absence of spontaneous seizures. Reflex seizures may occur in epilepsies of varied etiologies (e.g. in structural brain abnormality and in genetic/idiopathic generalized epilepsies), however these are not categorized as reflex epilepsies as spontaneous seizures occur in addition to reflex seizures. epilepsy, sensory-induced disease_ontology DOID:2548 reflex epilepsy true true true Reflex epilepsies are characterized by the presence of reflex seizures and the absence of spontaneous seizures. Reflex seizures may occur in epilepsies of varied etiologies (e.g. in structural brain abnormality and in genetic/idiopathic generalized epilepsies), however these are not categorized as reflex epilepsies as spontaneous seizures occur in addition to reflex seizures. https://www.epilepsydiagnosis.org/syndrome/reflex-epilepsies-overview.html A cardiovascular organ benign neoplasm that has_material_basis_in endothelial cells that line blood vessels and is characterised by increased number of normal or abnormal vessels filled with blood. ICD10CM:D18.0 ICD10CM:D18.00 ICD9CM:228.0 ICD9CM:228.00 MESH:D006391 NCI:C3085 SNOMEDCT_US_2018_03_01:2099007 SNOMEDCT_US_2018_03_01:93474003 UMLS_CUI:C0018916 disease_ontology DOID:255 hemangioma An endocrine system disease that is located_in the pancreas. ICD10CM:K86.8 ICD10CM:K86.89 ICD9CM:577.8 UMLS_CUI:C0029771 disease_ontology DOID:26 pancreas disease A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body. ICD10CM:E34.9 ICD9CM:259.9 MESH:D004700 NCI:C3009 SNOMEDCT_US_2018_03_01:67432001 UMLS_CUI:C0014130 disease_ontology DOID:28 endocrine system disease A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety. DOID:12703 DOID:13829 DOID:13830 DOID:2840 DOID:5783 https://www.ncbi.nlm.nih.gov/books/NBK1169/ EFO:0000270 GARD:10246 ICD10CM:J45 ICD10CM:J45.90 ICD10CM:J45.909 ICD9CM:493 ICD9CM:493.9 KEGG:05310 MESH:D001249 NCI:C28397 SNOMEDCT_US_2018_03_01:21341004 UMLS_CUI:C0004096 Exercise induced asthma bronchial hyperreactivity chronic obstructive asthma chronic obstructive asthma with acute exacerbation chronic obstructive asthma with status asthmaticus exercise-induced asthma disease_ontology DOID:2841 Xref MGI. asthma true An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles). DOID:4069 CSP2005:4009-0053 GARD:6922 ICD10CM:I45.81 ICD9CM:426.82 MESH:D008133 MESH:D029597 NCI:C34786 NCI:C85049 OMIM:PS192500 ORDO:101016 ORDO:768 SNOMEDCT_US_2018_03_01:20852007 SNOMEDCT_US_2018_03_01:9651007 UMLS_CUI:C0023976 UMLS_CUI:C0035828 LQT Romano-Ward syndrome long Q-T syndrome disease_ontology DOID:2843 OMIM mapping confirmed by DO. [SN]. long QT syndrome https://www.epilepsydiagnosis.org/epilepsy-imitators.html#longqt true true A sleep disorder that involves involuntarily grinding or clenching of the teeth while sleeping. DOID:8891 ICD10CM:F45.8 ICD10CM:G47.63 ICD9CM:327.53 MESH:D002012 MESH:D020186 MTHICD9_2006:306.8 NCI:C73511 SNOMEDCT_US_2018_03_01:90207007 UMLS_CUI:C0006325 UMLS_CUI:C0393774 Bruxism - teeth grinding Grinding teeth Teeth grinding sleep related bruxism disease_ontology DOID:2846 bruxism http://s3.amazonaws.com/host-article-assets/rou/588018d47f8c9d0a098b4e3a/fulltext.pdf http://www.case.edu/EpSO.owl#Bruxism true true A disease of anatomical entity that is located_in the immune system. EFO:0000540 ICD10CM:D89.9 ICD9CM:279 ICD9CM:279.9 UMLS_CUI:C0041806 disease_ontology DOID:2914 immune system disease A hypersensitivity reaction disease that is characterized by a cell-mediated response to antigens, where Th1 helper T cells react with antigens on antigen-presenting cells and cause a delayed type immune response. ICD10CM:C88.9 MESH:D007160 SNOMEDCT_US_2018_03_01:86295000 UMLS_CUI:C0021070 disease_ontology immunoproliferative disease DOID:2916 hypersensitivity reaction type IV disease An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates. DOID:9434 CSP2005:0551-8201 MESH:D002239 UMLS_CUI:C0007001 disorder of carbohydrate transport and metabolism inborn carbohydrate metabolism disorder inborn errors of carbohydrate metabolism disease_ontology DOID:2978 carbohydrate metabolic disorder A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning. MESH:D019966 NCI:C16522 SNOMEDCT_US_2018_03_01:26416006 UMLS_CUI:C0013146 disease_ontology drug abuse DOID:302 substance abuse http://www.case.edu/EpSO.owl#SubstanceAbuse https://www.epilepsy.com/learn/triggers-seizures/drug-abuse true A disease of mental health involving the abuse or dependence on a substance that is ingested in order to produce a high, alter one's senses, or otherwise affect functioning. MESH:D019966 NCI:C92203 UMLS_CUI:C0236969 disease_ontology DOID:303 substance-related disorder An astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes. DOID:3075 DOID:3080 CSP2005:2012-6410 GARD:2491 MESH:D005909 NCI2004_11_17:C3058 NCI2004_11_17:C9094 NCI:C129295 NCI:C3058 NCI:C39750 NCI:C9094 SNOMEDCT_US_2018_03_01:63634009 UMLS_CUI:C0017636 UMLS_CUI:C0278878 UMLS_CUI:C1514422 GBM adult glioblastoma multiforme grade IV adult Astrocytic tumor primary glioblastoma multiforme spongioblastoma multiforme disease_ontology DOID:3068 glioblastoma multiforme http://www.case.edu/EpSO.owl#GlioblastomaMultiforme A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord. DOID:4861 CSP2005:2012-6768 ICDO:M9400/3 MESH:D001254 NCI:C4951 NCI:C60781 NCI:C6958 SNOMEDCT_US_2018_03_01:38713004 UMLS_CUI:C0004114 UMLS_CUI:C0750935 Astrocytic tumor Astrocytoma, NOS astrocytoma of Cerebrum astrocytoma of brain astroglioma cerebral astrocytoma disease_ontology DOID:3069 astrocytoma CSP2005:0485-7984 MESH:D004831 MTHICD9_2006:345.1 UMLS_CUI:C0014550 Early myoclonic encephalopathy is a syndrome characterized by frequent intractable seizures and severe early encephalopathy resulting in limited development and reduced life expectancy. Epileptic seizures - myoclonic Epileptic seizures, myoclonic Myoclonic seizure Myoclonic seizure disorder myoclonia epileptica myoclonic epilepsy disease_ontology DOID:308 early myoclonic encephalopathy true true true Early myoclonic encephalopathy is a syndrome characterized by frequent intractable seizures and severe early encephalopathy resulting in limited development and reduced life expectancy. https://www.epilepsydiagnosis.org/syndrome/eme-overview.html ICD10CM:E88.42 MESH:D017243 MTHICD9_2006:277.87 NCI:C84889 OMIM:545000 SNOMEDCT_US_2018_03_01:57254004 SNOMEDCT_US_2018_03_01:68448003 UMLS_CUI:C0162672 MERRF (myoclonic epilepsy with ragged red fibres) presents in the second decade or later, as progressive myoclonus epilepsy with typical EEG findings of giant somatosensory potentials and photosensitivity. Clinically, patients show prominent myoclonic seizures as well as other seizure types. Fukuhara syndrome Myoclonic epilepsy - ragged red fibers Myoclonic epilepsy with ragged red fibres Myoclonus epilepsy AND ragged red fibers Myoclonus with epilepsy and with Ragged Red Fibers disease_ontology DOID:310 OMIM mapping confirmed by DO. [SN]. MERRF syndrome true MERRF (myoclonic epilepsy with ragged red fibres) presents in the second decade or later, as progressive myoclonus epilepsy with typical EEG findings of giant somatosensory potentials and photosensitivity. Clinically, patients show prominent myoclonic seizures as well as other seizure types. https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html#mitochondrial A gastrointestinal system disease that is located_in the liver and/or biliary tract. NCI:C3959 UMLS_CUI:C0267792 liver and biliary tract disease disease_ontology DOID:3118 hepatobiliary disease A porphyria that has_symptom abdominal pain, has_symptom neuropathy, has_symptom autonomic instability and has_symptom psychosis. MESH:D017094 OMIM:612740 ORDO:100924 SNOMEDCT_US_2018_03_01:55056006 UMLS_CUI:C0162533 hepatic porphyria disease_ontology DOID:3133 Xref MGI. acute porphyria https://www.epilepsy.com/learn/professionals/co-existing-disorders/metabolic-disorders/inborn-errors/hepatic-porphyria true DOID:3182 https://www.ncbi.nlm.nih.gov/pubmed/26478444 GARD:9953 MESH:D009837 NCI2004_11_17:C6960 NCI:C129319 NCI:C6960 SNOMEDCT_US_2018_03_01:73348003 UMLS_CUI:C0028945 UMLS_CUI:C1335110 Oligodendrogliomas are cerebral tumors that are differentiated from other gliomas on the basis of their unique genetic characteristics and better response to chemotherapy. These tumors are classified according to their grade (low grade oligodendrogliomas: grade II of the WHO classification and anaplastic oligodendrogliomas: grade III of the WHO classification) and according to their pure or mixed histology (oligoastrocytomas). oligodendroglial neoplasm oligodendroglial tumor disease_ontology DOID:3181 oligodendroglioma http://www.case.edu/EpSO.owl#Oligodendroglioma true Oligodendrogliomas are cerebral tumors that are differentiated from other gliomas on the basis of their unique genetic characteristics and better response to chemotherapy. These tumors are classified according to their grade (low grade oligodendrogliomas: grade II of the WHO classification and anaplastic oligodendrogliomas: grade III of the WHO classification) and according to their pure or mixed histology (oligoastrocytomas). http://purl.obolibrary.org/obo/MONDO_0018744 ICD10CM:G95.9 ICD9CM:336.9 MESH:D013118 NCI:C97110 SNOMEDCT_US_2018_03_01:48522003 SNOMEDCT_US_2018_03_01:95648003 UMLS_CUI:C0037928 disease_ontology myelopathy DOID:319 spinal cord disease An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function. CSP2005:1849-5878 MESH:D016464 NCI:C61250 SNOMEDCT_US_2018_03_01:23585005 UMLS_CUI:C0085078 disorder of lysosomal enzyme inborn lysosomal enzyme disorder lysosomal storage metabolism disorder disease_ontology DOID:3211 lysosomal storage disease A neurodegenerative disease that is characterized by damage to the myelin sheath present around nerve axons. MESH:D003711 NCI2004_11_17:C34527 NCI:C34527 UMLS_CUI:C0011303 demyelinating disorder disease_ontology DOID:3213 demyelinating disease A vascular disease that is characterized by a restriction in blood supply to tissues. MESH:D007511 NCI:C34738 SNOMEDCT_US_2018_03_01:52674009 UMLS_CUI:C0022116 disease_ontology DOID:326 ischemia A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system. ICD10CM:G96.9 MESH:D002493 NCI:C2934 SNOMEDCT_US_2018_03_01:23853001 UMLS_CUI:C0007682 disease_ontology DOID:331 central nervous system disease A mood disorder that involves alternating periods of mania and depression. DOID:3311 DOID:9554 DOID:9555 https://www.ncbi.nlm.nih.gov/pubmed/31552392 CSP2005:2483-6684 CSP2005:2483-6691 EFO:0000289 ICD10CM:F31 ICD10CM:F31.9 ICD9CM:296.40 ICD9CM:296.60 ICD9CM:296.80 MESH:D001714 NCI2004_11_17:C34423 NCI2004_11_17:C34805 NCI:C34423 NCI:C34424 NCI:C34805 SNOMEDCT_US_2018_03_01:13746004 SNOMEDCT_US_2018_03_01:16506000 SNOMEDCT_US_2018_03_01:68569003 UMLS_CUI:C0005586 UMLS_CUI:C0005587 UMLS_CUI:C0024713 UMLS_CUI:C0236780 Manic Bipolar Affective disorder Manic Depressive disorder Manic bipolar I disorder bipolar depression bipolar disorder manic phase manic depression manic disorder mixed bipolar disorder disease_ontology Depressive-manic psych. DOID:3312 bipolar disorder http://www.case.edu/EpSO.owl#BipolarDisorder true A cognitive disorder that involves a disturbance in mood as the predominant underlying feature. https://www.ncbi.nlm.nih.gov/pubmed/18472483 EFO:0004247 ICD10CM:F30-F39 ICD10CM:F39 MESH:D019964 NCI:C92200 SNOMEDCT_US_2018_03_01:46206005 SNOMEDCT_US_2018_03_01:74421008 UMLS_CUI:C0525045 episodic mood disorder disease_ontology DOID:3324 Updating outdated UMLS CUI. mood disorder true MESH:D004833 MTHICD9_2006:345.4 SNOMEDCT_US_2018_03_01:84340007 UMLS_CUI:C0014556 A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see epilepsy, complex partial) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). epilepsy, temporal lobe disease_ontology DOID:3328 temporal lobe epilepsy http://www.case.edu/EpSO.owl#TemporalLobeEpilepsy true A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see epilepsy, complex partial) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). http://purl.obolibrary.org/obo/MONDO_0005115 MESH:D019305 OMIM:117100 UMLS_CUI:C0376532 Childhood epilepsy with centrotemporal spikes (previously known as benign childhood epilepsy with centrotemporal spikes (BCECTS) or Rolandic epilepsy) is a self-limiting epilepsy seen in children in their early school years. The seizures are brief, hemifacial seizures that may evolve to a focal to bilateral tonic-clonic seizure if they occur nocturnally. This epilepsy occurs in children who are otherwise neurologically and cognitively normal and imaging studies are unremarkable. The EEG shows a normal background with high amplitude centrotemporal sharp waves, which are activated with drowsiness and sleep. Seizures cease by mid to late adolescence. BCECTS BenignChildhoodEpilepsyWithCentrotemporalSpikes benign Rolandic epilepsy benign childhood epilepsy with centrotemporal spike rolandic epilepsy sylvan seizures disease_ontology DOID:3329 benign epilepsy with centrotemporal spikes http://www.case.edu/EpSO.owl#BenignChildhoodEpilepsyWithCentrotemporalSpikes Childhood epilepsy with centrotemporal spikes (previously known as benign childhood epilepsy with centrotemporal spikes (BCECTS) or Rolandic epilepsy) is a self-limiting epilepsy seen in children in their early school years. The seizures are brief, hemifacial seizures that may evolve to a focal to bilateral tonic-clonic seizure if they occur nocturnally. This epilepsy occurs in children who are otherwise neurologically and cognitively normal and imaging studies are unremarkable. The EEG shows a normal background with high amplitude centrotemporal sharp waves, which are activated with drowsiness and sleep. Seizures cease by mid to late adolescence. https://www.epilepsydiagnosis.org/syndrome/ects-overview.html MESH:D017034 UMLS_CUI:C0085541 A localization-related (focal) form of epilepsy characterized by seizures which arise in the frontal lobe. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures). Frontal lobe epilepsy disease_ontology DOID:3331 frontal lobe epilepsy http://www.case.edu/EpSO.owl#FrontalLobeEpilepsy true A localization-related (focal) form of epilepsy characterized by seizures which arise in the frontal lobe. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures). http://purl.obolibrary.org/obo/MONDO_0002612 A bone disease that results_in inflammation of the located_in bone. CSP2005:2715-2703 MESH:D010000 SNOMEDCT_US_2018_03_01:44462005 UMLS_CUI:C0029400 Inflammatory disorder of bone bone inflammatory disease osteitis disease_ontology DOID:3342 bone inflammation disease An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles. DOID:10506 DOID:3363 DOID:3394 DOID:9420 https://www.ncbi.nlm.nih.gov/pubmed/32014726 CSP2005:1393-3397 EFO:0001645 ICD10CM:I20-I25 ICD10CM:I25 ICD10CM:I25.1 ICD10CM:I25.10 ICD10CM:I25.9 ICD10CM:K76.1 ICD9CM:410-414.99 ICD9CM:414.0 ICD9CM:414.9 MESH:D003324 MESH:D003327 MESH:D017202 NCI2004_11_17:C26732 NCI:C35505 NCI:C50625 OMIM:300464 OMIM:607339 OMIM:608316 OMIM:608318 OMIM:608320 OMIM:610947 OMIM:611139 OMIM:612030 OMIM:614293 SNOMEDCT_US_2018_03_01:2610009 SNOMEDCT_US_2018_03_01:32598000 SNOMEDCT_US_2018_03_01:41702007 SNOMEDCT_US_2018_03_01:53741008 SNOMEDCT_US_2018_03_01:84537008 UMLS_CUI:C0010054 UMLS_CUI:C0010068 UMLS_CUI:C0151744 UMLS_CUI:C0264694 CHD Coronary disease coronary arteriosclerosis coronary heart disease disease_ontology DOID:3393 Xref MGI. coronary artery disease true A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain. MESH:D020520 UMLS_CUI:C0751955 disease_ontology DOID:3454 brain infarction A skin disease where there is a diffuse infection of connective tissue with severe inflammation of dermal and subcutaneous layers of the skin. Cellulitis can be caused by normal skin flora or by exogenous bacteria, and often occurs where the skin has previously been broken: cracks in the skin, cuts, blisters, burns, insect bites, surgical wounds, or sites of intravenous catheter insertion. DOID:2472 ICD10CM:L03.90 MESH:D002481 NCI:C26715 NCI:C34454 SNOMEDCT_US_2018_03_01:62837005 SNOMEDCT_US_2018_03_01:74276003 UMLS_CUI:C0007642 UMLS_CUI:C0007646 disease_ontology DOID:3488 cellulitis A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain. https://www.ncbi.nlm.nih.gov/pubmed/30022372 ICD10CM:I63 ICD10CM:I63.9 MESH:D002544 NCI:C50486 OMIM:601367 SNOMEDCT_US_2018_03_01:20059004 UMLS_CUI:C0007785 CVA - Cerebral infarction Cerebral infarct Cerebral infarction disease_ontology DOID:3526 cerebral infarction http://www.case.edu/EpSO.owl#CerebralInfarction true A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges. DOID:1137 DOID:3554 DOID:3567 DOID:4750 https://www.ncbi.nlm.nih.gov/pubmed/31604333 GARD:7015 ICD10CM:D32.9 ICDO:M9530/3 MESH:D008577 MESH:D008579 NCI:C3229 NCI:C3230 NCI:C4656 NCI:C6971 NCI:C7048 UMLS_CUI:C0025284 UMLS_CUI:C0025286 UMLS_CUI:C0349604 UMLS_CUI:C1334698 UMLS_CUI:C1336537 intracranial meningioma meningeal neoplasm meningothelial cell tumor neoplasm of the meninges primary Meningeal tumor supratentorial meningioma disease_ontology DOID:3565 meningioma http://www.case.edu/EpSO.owl#Meningioma true A nervous system cancer that is located_in the central nervous system. DOID:0060093 DOID:1318 CSP2005:2012-5421 EFO:0000326 ICD10CM:C72.9 MESH:D016543 NCI2004_11_17:C4627 NCI2004_11_17:C9293 NCI:C4627 NCI:C9293 SNOMEDCT_US_2018_03_01:93744007 UMLS_CUI:C0085136 UMLS_CUI:C0348374 CNS neoplasm central nervous system tumor central nervous system tumors malignant neoplasm of central nervous system malignant tumor of CNS neoplasm of central nervous system disease_ontology DOID:3620 central nervous system cancer A urinary system disease that is located_in the bladder. ICD10CM:N32.9 ICD9CM:596.9 MESH:D001745 NCI:C2900 SNOMEDCT_US_2018_03_01:42643001 UMLS_CUI:C0005686 Urinary Bladder Disease disease_ontology DOID:365 bladder disease A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, has_symptom myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and severe headaches, and develops_from mutation in mitochondrial genes including MT-TL1, which encodes tRNA proteins. ICD10CM:E88.41 MESH:D017241 NCI:C84885 OMIM:540000 SNOMEDCT_US_2018_03_01:39925003 UMLS_CUI:C0162671 MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) frequently leads to seizures, especially during acute stroke-like episodes where focal seizures arise in the involved cortical areas. Epilepsia partialis continua may occur. MELAS MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes disease_ontology DOID:3687 OMIM mapping confirmed by DO. [SN]. MELAS syndrome http://www.case.edu/EpSO.owl#MitochondrialEncephalomyopathyLacticAcidosisStrokelikeEpisodes true MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) frequently leads to seizures, especially during acute stroke-like episodes where focal seizures arise in the involved cortical areas. Epilepsia partialis continua may occur. https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html#mitochondrial An integumentary system disease that is located_in skin. DOID:1576 DOID:1698 DOID:187 DOID:6486 DOID:8948 ICD9CM:702 MESH:D012871 MESH:D012873 NCI:C27554 NCI:C3371 SNOMEDCT_US_2018_03_01:5613003 SNOMEDCT_US_2018_03_01:80659006 SNOMEDCT_US_2018_03_01:95320005 UMLS_CUI:C0029574 UMLS_CUI:C0037274 UMLS_CUI:C0037277 Genodermatosis skin and subcutaneous tissue disease disease_ontology DOID:37 skin disease An acquired metabolic disease that is characterized by an insufficient intake of food or of certain nutrients, by an inability of the body to absorb and use nutrients, or by overconsumption of certain foods. MESH:D009748 NCI2004_11_17:C26836 NCI:C26836 SNOMEDCT_US_2018_03_01:2492009 UMLS_CUI:C3714509 Nutritional disorder disease_ontology DOID:374 nutrition disease A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes. DOID:10096 DOID:12688 DOID:12691 DOID:415 DOID:9901 DOID:9902 GARD:7827 MESH:D014375 SNOMEDCT_US_2018_03_01:15202009 UMLS_CUI:C0041295 Seizures can occur in meningo-tuberculosis due to cerebral vasculitis and infarction, especially in young children and in people co-infected with HIV. Seizures with focal features may also occur as a consequence of tuberculomas, identified as ring-enhancing lesions on neuroimaging. disease_ontology DOID:399 tuberculosis true Seizures can occur in meningo-tuberculosis due to cerebral vasculitis and infarction, especially in young children and in people co-infected with HIV. Seizures with focal features may also occur as a consequence of tuberculomas, identified as ring-enhancing lesions on neuroimaging. https://www.epilepsydiagnosis.org/aetiology/infectious-groupoverview.html A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. MESH:D004194 NCI:C2991 SNOMEDCT_US_2020_09_01:64572001 UMLS_CUI:C0012634 disease_ontology DOID:4 disease DOID:2164 DOID:2165 DOID:46 ICD10CM:K70-K77 ICD10CM:K76.9 ICD9CM:573.9 MESH:D008107 NCI2004_11_17:C3196 NCI:C3196 SNOMEDCT_US_2018_03_01:62857009 UMLS_CUI:C0023895 disorder of liver hepatic disorder disease_ontology DOID:409 liver disease https://www.epilepsy.com/learn/professionals/co-existing-disorders/gastrointestinal-liver-disease true A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss. DOID:4019 GARD:8 ICD10CM:R48.1 ICD10CM:R48.2 MESH:D000377 MESH:D001072 NCI:C84542 SNOMEDCT_US_2018_03_01:42341009 SNOMEDCT_US_2018_03_01:68345001 SNOMEDCT_US_2018_03_01:6950007 UMLS_CUI:C0001816 UMLS_CUI:C0003635 Dyspraxia Dyspraxia syndrome disease_ontology DOID:4090 agnosia An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues. autoimmune disease https://www.ncbi.nlm.nih.gov/pubmed/30562654 ICD9CM:720 OMIM:109100 UMLS_CUI:C0003089 autoimmune disease hypersensitivity reaction type II disease disease_ontology DOID:417 Xref MGI. autoimmune hypersensitivity disease true true MESH:D044882 NCI:C53655 UMLS_CUI:C1257958 disorder of glucose metabolism disease_ontology DOID:4194 glucose metabolism disease https://www.ncbi.nlm.nih.gov/pubmed/21851492 MESH:D023921 NCI:C80427 UMLS_CUI:C0242231 Coronary artery stenosis disease_ontology DOID:4248 coronary stenosis true An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom dyspnea. DOID:443 DOID:444 https://www.ncbi.nlm.nih.gov/pubmed/30562654 GARD:7122 ICD10CM:G70.0 ICD10CM:G70.00 ICD9CM:358.0 ICD9CM:358.00 MESH:D009157 NCI:C60989 OMIM:254200 SNOMEDCT_US_2018_03_01:91637004 UMLS_CUI:C0026896 UMLS_CUI:C1260409 disease_ontology DOID:437 OMIM mapping confirmed by DO. [SN]. myasthenia gravis true true An autoimmune hypersensitivity disease affecting the nervous system. CSP2005:1560-5548 MESH:D020274 NCI:C99383 UMLS_CUI:C0751871 disease_ontology autoimmune nervous system disorder DOID:438 autoimmune disease of the nervous system A reading disorder resulting from a developmental reading disability involving the inability to process graphic symbols resulting in impairment of reading ability. ICD10CM:F81.0 MESH:D004410 NCI:C96410 OMIM:300509 OMIM:600202 OMIM:604254 OMIM:606616 OMIM:606896 OMIM:608995 SNOMEDCT_US_2018_03_01:52824009 SNOMEDCT_US_2018_03_01:59770006 SNOMEDCT_US_2018_03_01:9236007 UMLS_CUI:C0476254 disease_ontology DOID:4428 Xref MGI. dyslexia https://www.epilepsydiagnosis.org/seizure/cognitive-overview.html true A writing disorder that involves a deficiency in the ability to write where the writing is distorted or incorrect, spelling difficulty, poor handwriting or trouble putting thoughts on paper. https://www.ncbi.nlm.nih.gov/pubmed/26132164 ICD10CM:R48.8 MESH:D000381 SNOMEDCT_US_2018_03_01:27206009 UMLS_CUI:C0001825 disease_ontology DOID:4540 dysgraphia https://www.epilepsydiagnosis.org/seizure/cognitive-overview.html true An amnestic disorder that involves a loss of one's pre-existing memories to conscious recollection. ICD10CM:R41.2 MESH:D000648 NCI:C34372 SNOMEDCT_US_2018_03_01:51921000 UMLS_CUI:C0002624 disease_ontology DOID:4543 retrograde amnesia true A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma. https://www.ncbi.nlm.nih.gov/pubmed/6527775 CSP2005:0485-0998 MESH:D001929 SNOMEDCT_US_2018_03_01:2032001 SNOMEDCT_US_2018_03_01:85974009 UMLS_CUI:C1527311 intracranial swelling wet brain disease_ontology DOID:4724 brain edema true A disease of mental health that involves physical symptoms suggesting a physical illness where the biological or medical cause of the symptoms is indeterminate. DOID:10133 DOID:144 CSP2005:2482-7019 ICD10CM:F45 ICD10CM:F45.0 ICD10CM:F45.9 ICD9CM:300.8 ICD9CM:300.81 MESH:D013001 NCI:C34956 SNOMEDCT_US_2018_03_01:31297008 SNOMEDCT_US_2018_03_01:60368009 SNOMEDCT_US_2018_03_01:9514005 UMLS_CUI:C0037650 UMLS_CUI:C0520482 physiological malfunction arising from mental factor psychophysiologic disorder psychosomatic disorder disease_ontology DOID:4737 somatoform disorder A brain disease that is characterized by a clinical syndrome of either hyperkinetic movement or hyperkinetic movement unrelated to weakness or spasticity. MESH:D009069 NCI:C116757 SNOMEDCT_US_2018_03_01:60342002 UMLS_CUI:C0026650 disease_ontology DOID:480 movement disease An astrocytoma that is characterized by cells that look like fibers when viewed under a microscope and is located_in the brain. GARD:9808 MESH:D001254 NCI2004_11_17:C4047 NCI:C4047 SNOMEDCT_US_2018_03_01:67859002 UMLS_CUI:C0334583 Piloid astrocytoma grade I Astrocytic tumor disease_ontology DOID:4851 pilocytic astrocytoma http://www.case.edu/EpSO.owl#PilocyticAstrocytoma https://www.ncbi.nlm.nih.gov/pubmed/31361236 NCI2004_11_17:C4323 NCI:C4323 SNOMEDCT_US_2018_03_01:78838008 UMLS_CUI:C0334586 Pleomorphic Xantho-astrocytoma disease_ontology DOID:4852 pleomorphic xanthoastrocytoma http://www.case.edu/EpSO.owl#PleomorhicXanthoastrocytoma true A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years. DOID:0050326 GARD:6808 MESH:D020190 NCI:C84796 OMIM:254770 ORDO:307 ORDO:862 SNOMEDCT_US_2018_03_01:6204001 UMLS_CUI:C0270853 This syndrome is one of the most common genetic/idiopathic generalized epilepsies and is characterized by myoclonic and generalized tonic-clonic seizures in an otherwise normal adolescent or adult. The EEG shows generalized spike-and-wave and polyspike-and-wave. Photosensitivity is common. Janz syndrome disease_ontology DOID:4890 Xref MGI. OMIM mapping confirmed by DO. [SN]. juvenile myoclonic epilepsy http://www.case.edu/EpSO.owl#JuvenileMyoclonicEpilepsy true true This syndrome is one of the most common genetic/idiopathic generalized epilepsies and is characterized by myoclonic and generalized tonic-clonic seizures in an otherwise normal adolescent or adult. The EEG shows generalized spike-and-wave and polyspike-and-wave. Photosensitivity is common. https://www.epilepsydiagnosis.org/syndrome/jme-overview.html An endocrine system disease that is located_in the thyroid. https://www.ncbi.nlm.nih.gov/pubmed/18777476 https://www.ncbi.nlm.nih.gov/pubmed/26362394 ICD10CM:E00-E07 ICD10CM:E07.9 ICD9CM:240-246.99 ICD9CM:246.9 MESH:D013959 NCI:C26893 SNOMEDCT_US_2018_03_01:14304000 UMLS_CUI:C0040128 Transient ischemic attack disease_ontology Thyroid hormone abnormalities DOID:50 thyroid gland disease true A cell type benign neoplasm that has_material_basis_in glial-type cells. DOID:5606 DOID:5607 GARD:2430 MESH:D018303 NCI:C27362 NCI:C27363 NCI:C3788 SNOMEDCT_US_2018_03_01:89880005 UMLS_CUI:C0206716 UMLS_CUI:C1332202 UMLS_CUI:C1332969 A gangliogliomas is a glioneuronal tumor that is cortically based, and may have a solid and/or multicystic appearance. Histologically, gangliogliomas are characterized by large ganglion-like cells, intermixed with glial (predominantly astrocytic) cells. They are commonly found in the temporal lobes, but can be found elsewhere. They may co-occur with adjacent focal cortical dysplasia (FCD IIIb), suggesting a common developmental etiology for both structural abnormalities. CNS ganglioglioma adult ganglioglioma childhood ganglioglioma disease_ontology DOID:5078 ganglioglioma http://www.case.edu/EpSO.owl#Ganglioglioma true A gangliogliomas is a glioneuronal tumor that is cortically based, and may have a solid and/or multicystic appearance. Histologically, gangliogliomas are characterized by large ganglion-like cells, intermixed with glial (predominantly astrocytic) cells. They are commonly found in the temporal lobes, but can be found elsewhere. They may co-occur with adjacent focal cortical dysplasia (FCD IIIb), suggesting a common developmental etiology for both structural abnormalities. https://www.epilepsydiagnosis.org/aetiology/ganglioglioma-overview.html A nutrition disease that is characterized by deficiency of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content. MESH:D003677 UMLS_CUI:C0011156 disease_ontology DOID:5113 nutritional deficiency disease https://www.epilepsy.com/learn/triggers-seizures/nutritional-deficiencies true A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands. CSP2005:1560-6305 ICD10CM:B20 ICD10CM:B20-B20 ICD9CM:042 ICD9CM:042-042.99 MESH:D015658 NCI:C3108 SNOMEDCT_US_2018_03_01:86406008 UMLS_CUI:C0019693 Seizures can result from primary cerebral HIV infection, especially in children. In adults, most seizures are cause by related opportunistic central nervous system infections such as toxoplasmosis, cryptococcal meningitis and tuberculomas; or due to secondary neoplastic lesions. HIV HIV infection disease_ontology DOID:526 human immunodeficiency virus infectious disease true Seizures can result from primary cerebral HIV infection, especially in children. In adults, most seizures are cause by related opportunistic central nervous system infections such as toxoplasmosis, cryptococcal meningitis and tuberculomas; or due to secondary neoplastic lesions. https://www.epilepsydiagnosis.org/aetiology/infectious-groupoverview.html A gastrointestinal system disease that is located_in the intestine. DOID:10759 DOID:11222 DOID:11789 DOID:8531 DOID:8558 DOID:8591 ICD10CM:K63.9 ICD9CM:569.9 MESH:D007410 NCI:C26801 SNOMEDCT_US_2018_03_01:85919009 UMLS_CUI:C0021831 disease_ontology DOID:5295 intestinal disease An amnestic disorder that involves the impaired or lost ability to memorize new things. ICD10CM:R41.1 MESH:D020324 SNOMEDCT_US_2018_03_01:88822006 UMLS_CUI:C0233795 disease_ontology DOID:5340 anterograde amnesia true A disease of mental health that involves disruption of sleep patterns. DOID:9028 ICD9CM:307.4 UMLS_CUI:C0154564 Non-organic sleep disorder disease_ontology DOID:535 sleep disorder http://www.case.edu/EpSO.owl#SleepDisorder https://www.epilepsy.com/learn/professionals/co-existing-disorders/sleep-disorders https://www.ncbi.nlm.nih.gov/pubmed/30924504 NCI:C7739 UMLS_CUI:C0238814 disease_ontology DOID:5393 brain angioma true A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness. DOID:14734 https://www.ncbi.nlm.nih.gov/pubmed/8252282 EFO:0000692 ICD10CM:F20 ICD10CM:F20.9 ICD9CM:295 ICD9CM:295.9 ICD9CM:295.90 MESH:D012559 NCI:C3362 OMIM:181500 SNOMEDCT_US_2018_03_01:58214004 UMLS_CUI:C0036341 schizophrenia-1 disease_ontology DOID:5419 Xref MGI. OMIM mapping confirmed by DO. [SN]. schizophrenia http://www.case.edu/EpSO.owl#Schizophrenia true true A urinary system disease that is located_in the kidney. EFO:0003086 ICD10CM:N08 ICD10CM:N28.9 MESH:D007674 NCI:C3149 NCI:C34843 SNOMEDCT_US_2018_03_01:90708001 UMLS_CUI:C0022658 Renal Disorders nephropathy disease_ontology DOID:557 kidney disease https://www.epilepsy.com/learn/professionals/co-existing-disorders/renal-disorders true An eye and adnexa disease that is located_in the eye. DOID:2933 ICD10CM:H44 ICD10CM:H44.9 ICD9CM:360 ICD9CM:360.9 ICD9CM:379.90 MESH:D005128 NCI:C26767 SNOMEDCT_US_2018_03_01:79517001 UMLS_CUI:C0015397 disease_ontology DOID:5614 eye disease A neuropathy that is located_in one of the twelve cranial nerves. ICD10CM:G52.9 ICD9CM:352.9 MESH:D003389 NCI2004_11_17:C26733 NCI:C26733 SNOMEDCT_US_2018_03_01:73013002 UMLS_CUI:C0010266 Cranial nerve disorder disorder of cranial nerve disease_ontology DOID:5656 cranial nerve disease A nervous system disease that affects the peripheral nervous system. DOID:13069 CSP2005:2042-6617 ICD10CM:G64 ICD9CM:350-359.99 MESH:D010523 MTH:516 NCI:C119734 NCI:C27580 NCI:C27587 SNOMEDCT_US_2018_03_01:42658009 UMLS_CUI:C0031117 UMLS_CUI:C1335029 disease_ontology peripheral nerve disease peripheral neuropathy DOID:574 peripheral nervous system disease A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia. https://www.ncbi.nlm.nih.gov/pubmed/19655091 CSP2005:1393-3417 EFO:0000612 ICD10CM:I21 ICD10CM:I22 MESH:D009203 NCI:C27996 OMIM:608557 SNOMEDCT_US_2018_03_01:22298006 SNOMEDCT_US_2018_03_01:66514008 UMLS_CUI:C0027051 Myocardial infarct heart attack disease_ontology DOID:5844 Xref MGI. myocardial infarction true An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation. ICD10CM:F40 ICD10CM:F40.9 ICD9CM:300.2 ICD9CM:300.20 MESH:D010698 NCI:C35420 SNOMEDCT_US_2018_03_01:52039009 SNOMEDCT_US_2018_03_01:65673007 UMLS_CUI:C0349231 disease_ontology DOID:591 phobic disorder A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable. ICD10CM:F40.0 ICD10CM:F40.00 MESH:D000379 NCI:C34362 SNOMEDCT_US_2018_03_01:70691001 UMLS_CUI:C0001818 Fear of open spaces disease_ontology DOID:593 agoraphobia true An anxiety disorder that is characterized by unexpected and repeated episodes of intense fear accompanied by physical symptoms that may include chest pain, heart palpitations, shortness of breath, dizziness, or abdominal distress. https://www.ncbi.nlm.nih.gov/pubmed/30865078 CSP2005:4000-0280 EFO:0004262 ICD10CM:F41.0 MESH:D016584 NCI:C34890 OMIM:167870 OMIM:607853 OMIM:609985 UMLS_CUI:C0030319 panic anxiety syndrome disease_ontology DOID:594 Xref MGI. panic disorder true A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body. DOID:395 CSP2005:1393-3597 ICD10CM:I50 ICD10CM:I50.9 ICD9CM:428 ICD9CM:428.0 ICD9CM:428.9 MESH:D006333 MTHICD9_2006:428.0 MTHICD9_2006:428.9 NCI2004_11_17:C3080 NCI:C3080 NCI:C50577 SNOMEDCT_US_2018_03_01:42343007 SNOMEDCT_US_2018_03_01:84114007 UMLS_CUI:C0018801 UMLS_CUI:C0018802 CHF Cardiac Failure Congestive Congestive heart disease Weak heart disease_ontology DOID:6000 congestive heart failure https://www.epilepsy.com/learn/professionals/co-existing-disorders/cardiac-disorders true A disease that has_material_basis_in genetic variations in the human genome. MESH:D030342 NCI:C3101 SNOMEDCT_US_2018_03_01:32895009 UMLS_CUI:C0019247 disease_ontology DOID:630 genetic disease A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per ��L of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS. https://www.ncbi.nlm.nih.gov/pubmed/10474720 EFO:0000765 ICD10CM:B20 MESH:D000163 NCI2004_11_17:C2851 NCI:C2851 SNOMEDCT_US_2018_03_01:62479008 UMLS_CUI:C0001175 AIDS acquired Immune deficiency disease_ontology acquired immune deficiency syndrome DOID:635 acquired immunodeficiency syndrome https://www.epilepsy.com/learn/professionals/co-existing-disorders/infectious-states-seizures/viral-infections/human true true A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing. DOID:12437 EFO:0003821 ICD10CM:G43 ICD10CM:G43.9 ICD10CM:G43.909 ICD9CM:346 ICD9CM:346.9 MESH:D008881 NCI:C89715 OMIM:157300 SNOMEDCT_US_2018_03_01:37796009 UMLS_CUI:C0042331 UMLS_CUI:C0149931 migraine disorder migraine variant migraine with or without aura disease_ontology DOID:6364 Xref MGI. OMIM mapping confirmed by DO. [SN]. migraine https://www.epilepsy.com/learn/professionals/co-existing-disorders/migraine-epilepsy true true An encephalitis that involves inflammation of the brain caused by viral infection. DOID:10248 DOID:10249 DOID:10839 CSP2005:2042-4896 MESH:D004671 NCI:C34576 SNOMEDCT_US_2018_03_01:20411005 SNOMEDCT_US_2018_03_01:68197003 UMLS_CUI:C0014055 Encephalitis is a recognized complication of infections with a number of viruses. Herpes simplex virus type 1 is the most common viral cause. Affected individuals present with acute encephalopathy and seizures, epilepsy develops in around 50% of cases. Other less common etiologies for viral encephalitis include human herpes virus 6 (associated with acute limbic encephalitis and febrile status epilepticus), influenza B, varicella, measles, mumps and rubella viruses. epidemic encephalitis disease_ontology DOID:646 viral encephalitis true Encephalitis is a recognized complication of infections with a number of viruses. Herpes simplex virus type 1 is the most common viral cause. Affected individuals present with acute encephalopathy and seizures, epilepsy develops in around 50% of cases. Other less common etiologies for viral encephalitis include human herpes virus 6 (associated with acute limbic encephalitis and febrile status epilepticus), influenza B, varicella, measles, mumps and rubella viruses. https://www.epilepsydiagnosis.org/aetiology/infectious-groupoverview.html A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. CSP2005:0729-7208 MESH:D003240 NCI:C26729 UMLS_CUI:C0009782 connective tissue disorder disorder of connective tissue disease_ontology DOID:65 connective tissue disease A nutrition disease that is characterized by an excess of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content. MESH:D044343 UMLS_CUI:C1257763 disease_ontology DOID:654 Updated outdated UMLS CUI. overnutrition A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality. CSP2005:1849-0057 MESH:D008661 NCI2004_11_17:C34816 NCI:C34816 SNOMEDCT_US_2018_03_01:86095007 UMLS_CUI:C0025521 Inborn Errors of Metabolism Metabolic hereditary disorder inborn metabolism disorder disease_ontology DOID:655 inherited metabolic disorder A brain angioma that is characterized by vascular abnormalities that develops from cranial and spinal blood vasculature, has_material_basis_in abnormally proliferating cells, derives_from endothelial cells in and about the vascular lumen. NCI2004_11_17:C5433 NCI:C5433 UMLS_CUI:C0877388 Cerebral angiomas are vascular abnormalities comprised of clusters of abnormally dilated blood vessels. They can be singular or multiple, and are found in the brain, spinal cord, and rarely, in other areas of the body including the skin and retina. hemangioma of Cerebrum disease_ontology DOID:6621 cerebral angioma true Cerebral angiomas are vascular abnormalities comprised of clusters of abnormally dilated blood vessels. They can be singular or multiple, and are found in the brain, spinal cord, and rarely, in other areas of the body including the skin and retina. https://www.epilepsydiagnosis.org/aetiology/cerebral-angioma-overview.html An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain. DOID:12214 DOID:3455 DOID:8231 CSP2005:0617-5539 EFO:0000712 ICD10CM:I60-I69 ICD10CM:I63.9 ICD10CM:I67.9 ICD9CM:430-438.99 ICD9CM:437.9 MESH:D002561 MESH:D020521 NCI:C2938 NCI:C3390 SNOMEDCT_US_2018_03_01:62914000 SNOMEDCT_US_2018_03_01:82797006 UMLS_CUI:C0007820 UMLS_CUI:C0038454 CVA Cerebrovascular accident cerebrovascular accident cerebrovascular disorder stroke disease_ontology DOID:6713 OMIM mapping confirmed by DO. [SN]. cerebrovascular disease http://www.case.edu/EpSO.owl#CerebrovascularDisease A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain. MESH:D024801 UMLS_CUI:C0949664 disease_ontology DOID:680 tauopathy A disease that manifests in a defined anatomical structure. DOID:1 DOID:2 DOID:5 DOID:71 DOID:72 DOID:8 disease_ontology DOID:7 disease of anatomical entity An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint. https://www.ncbi.nlm.nih.gov/pubmed/27856781 EFO:0000685 ICD10CM:M06.9 ICD9CM:714.0 KEGG:05323 MESH:D001172 MTHICD9_2006:714.0 NCI2004_11_17:C27206 NCI:C2884 OMIM:180300 SNOMEDCT_US_2018_03_01:69896004 UMLS_CUI:C0003873 Arthritis or polyarthritis, rheumatic atrophic Arthritis disease_ontology DOID:7148 OMIM mapping confirmed by DO. [SN]. rheumatoid arthritis https://www.healio.com/rheumatology/rheumatoid-arthritis/news/online/%7Bc65ca682-7bc8-4bae-8c69-45b38526cf5e%7D/patients-with-ra-may-be-at-higher-risk-for-epilepsy true true A disease of anatomical entity that is located_in the gastrointestinal tract. DOID:27 DOID:944 CSP2005:1248-3545 ICD10CM:K92.9 ICD9CM:520-579.99 MESH:D004066 SNOMEDCT_US_2018_03_01:53619000 UMLS_CUI:C0012242 GIT disease Gastroenteropathy alimentary system disease digestive system disorder gastrointestinal disease gastrointestinal disorder disease_ontology DOID:77 gastrointestinal system disease An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type. MESH:D004830 MTHICD9_2006:345.1 NCI2004_11_17:C3022 NCI:C3022 UMLS_CUI:C0014549 This syndrome (previously known as epilepsy with grand mal seizures on awakening) is a common genetic/idiopathic generalized epilepsy. Individuals have infrequent generalized tonic-clonic seizures from the second decade of life, typically provoked by sleep deprivation. Epilepsy with generalized tonic-clonic seizure alone Epileptic seizures, tonic-clonic Grand Mal epilepsy Primary generalized tonic-clonic seizure tonic-clonic epilepsy disease_ontology DOID:7725 JA:Epilepsy Genetics Kiel epilepsy with generalized tonic-clonic seizures true This syndrome (previously known as epilepsy with grand mal seizures on awakening) is a common genetic/idiopathic generalized epilepsy. Individuals have infrequent generalized tonic-clonic seizures from the second decade of life, typically provoked by sleep deprivation. https://www.epilepsydiagnosis.org/syndrome/egtcsa-overview.html A thyroid gland disease that involves an over production of thyroid hormone. ICD10CM:E05.9 MESH:D006980 NCI2004_11_17:C3123 NCI:C3123 OMIM:603373 OMIM:609152 ORDO:99819 SNOMEDCT_US_2018_03_01:34486009 UMLS_CUI:C0020550 overactive thyroid disease_ontology DOID:7998 Xref MGI. hyperthyroidism https://www.epilepsy.com/learn/professionals/co-existing-disorders/metabolic-disorders/hyperthyroidism true A syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye. https://www.ncbi.nlm.nih.gov/pubmed/20301555 GARD:5764 MESH:D058540 NCI:C35256 OMIM:304050 ORDO:50 SNOMEDCT_US_2018_03_01:80651009 UMLS_CUI:C0175713 disease_ontology DOID:8461 OMIM mapping confirmed by DO. [SN]. Aicardi syndrome https://ghr.nlm.nih.gov/condition/aicardi-syndrome true A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint and/or redness located_in skin over the joint. ICD10CM:M19.90 MESH:D001168 NCI:C2883 SNOMEDCT_US_2018_03_01:3723001 UMLS_CUI:C0003864 Inflammatory disorder of joint disease_ontology DOID:848 arthritis A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide. DOID:11894 DOID:11895 DOID:29 DOID:766 ICD10CM:J98.4 MESH:D008171 NCI:C3198 SNOMEDCT_US_2018_03_01:19829001 UMLS_CUI:C0024115 disease_ontology DOID:850 Updating out dated CUI and removing lung abscess as a synonym. lung disease An autoimmune disease of skin and connective tissue characterized by large blisters. https://www.ncbi.nlm.nih.gov/pubmed/30562654 GARD:5972 ICD10CM:L12 ICD10CM:L12.0 ICD10CM:L12.9 ICD9CM:694.5 MESH:D010391 NCI:C34908 NCI:C84389 SNOMEDCT_US_2018_03_01:77090002 SNOMEDCT_US_2018_03_01:86142006 UMLS_CUI:C0030805 Bullous pemphigoid disease_ontology DOID:8506 bullous pemphigoid true https://www.ncbi.nlm.nih.gov/books/NBK2609/ ICD10CM:K21 ICD10CM:K21.9 ICD9CM:530.81 MESH:D005764 MTHICD9_2006:530.81 NCI2004_11_17:C26781 NCI:C26781 OMIM:109350 SNOMEDCT_US_2018_03_01:54856001 UMLS_CUI:C0017168 A chronic disorder characterized by reflux of the gastric and/or duodenal contents into the distal esophagus. It is usually caused by incompetence of the lower esophageal sphincter. Symptoms include heartburn and acid indigestion. It may cause injury to the esophageal mucosa. Acid reflux GERD GERD - Gastro-esophageal reflux disease Gastresophageal reflux Gastro-esophageal reflux Gastroesophageal reflux Gastroesophageal reflux disease disease_ontology DOID:8534 OMIM mapping confirmed by DO. [SN]. gastroesophageal reflux disease true A chronic disorder characterized by reflux of the gastric and/or duodenal contents into the distal esophagus. It is usually caused by incompetence of the lower esophageal sphincter. Symptoms include heartburn and acid indigestion. It may cause injury to the esophageal mucosa. http://purl.obolibrary.org/obo/MONDO_0007186 A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system. ICD10CM:G00-G99 ICD10CM:G98 ICD10CM:G98.8 ICD9CM:349.9 MESH:D009422 NCI:C26835 UMLS_CUI:C0027765 disease_ontology DOID:863 nervous system disease A nervous system disease that is located_in nerves or nerve cells. ICD10CM:G62.9 NCI:C4731 SNOMEDCT_US_2018_03_01:42658009 UMLS_CUI:C0442874 peripheral neuropathy disease_ontology DOID:870 neuropathy An intestinal disease that involves inflammation located_in intestine. DOID:8784 DOID:8855 DOID:8942 https://www.ncbi.nlm.nih.gov/pubmed/26549780 EFO:0000384 GARD:10232 ICD10CM:K50.1 ICD9CM:555.1 MESH:D003424 NCI2004_11_17:C37262 NCI:C35211 NCI:C37262 SNOMEDCT_US_2018_03_01:50440006 SNOMEDCT_US_2018_03_01:7620006 UMLS_CUI:C0156147 Crohn disease Crohn's disease of colon Crohn's disease of large bowel Granulomatous Colitis Pediatric Crohn's disease disease_ontology DOID:8778 MESH:C536215 added from NeuroDevNet [WAK]. Crohn's disease https://www.epilepsy.com/learn/professionals/co-existing-disorders/inflammatory-disorders true An autoimmune hypersensitivity disease that is characterized by a constellation of findings that include elevated antibodies to nuclear antigens, antiphospholipids, low complement levels, ulcers, non-scarring alopecia, renal or neurologic damage, and low white blood cell and platelet counts, has_symptom rashes, fatigue, arthritis, hair loss, seizures, and symptoms related to affected organs, and has_material_basis_in autoimmune disorder. ICD10CM:L93 ICD10CM:L93.0 ICD9CM:695.4 NCI2004_11_17:C27153 NCI:C27153 UMLS_CUI:C0409974 lupus disease_ontology DOID:8857 lupus erythematosus A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis). https://www.ncbi.nlm.nih.gov/pubmed/29379967 https://www.ncbi.nlm.nih.gov/pubmed/30562654 EFO:0004256 GARD:6267 ICD10CM:G36.0 ICD9CM:341.0 MESH:D009471 NCI:C84934 SNOMEDCT_US_2018_03_01:25044007 UMLS_CUI:C0027873 Devic's disease Devic's syndrome disease_ontology DOID:8869 neuromyelitis optica true A skin disease that is characterized by patches of thick red skin and silvery scales. https://www.ncbi.nlm.nih.gov/pubmed/24687183 EFO:0000676 GARD:10262 ICD10CM:L40 ICD10CM:L40.9 MESH:D011565 NCI:C3346 OMIM:PS177900 SNOMEDCT_US_2018_03_01:9014002 UMLS_CUI:C0033860 disease_ontology DOID:8893 Xref MGI. Update outdated UMLS CUI from C00295134 to C0033860. psoriasis true A variable age at onset electroclinical syndrome characterised by a relentlessly progressive disease course until death. GARD:7140 MESH:D020191 NCI2004_11_17:C7636 NCI:C7636 OMIM:310370 OMIM:PS254800 SNOMEDCT_US_2018_03_01:89480000 UMLS_CUI:C0751778 Progressive myoclonus epilepsy should considered in a patient with myoclonic seizures, with or without generalized tonic-clonic seizures in the following settings: Progressive cognitive decline , Myoclonus resulting in progressive motor impairment, Cerebellar signs , Background slowing on EEG (particularly if increasing over time), Myoclonus that is refractory to trials of appropriate anti-seizure medication PME progressive Myoclonus epilepsy progressive myoclonic epilepsy disease_ontology DOID:891 OMIM mapping confirmed by DO. [SN]. OMIM mapping submitted by NeuroDevNet. [LS]. progressive myoclonus epilepsy true true Progressive myoclonus epilepsy should considered in a patient with myoclonic seizures, with or without generalized tonic-clonic seizures in the following settings: Progressive cognitive decline , Myoclonus resulting in progressive motor impairment, Cerebellar signs , Background slowing on EEG (particularly if increasing over time), Myoclonus that is refractory to trials of appropriate anti-seizure medication https://www.epilepsydiagnosis.org/syndrome/pme-overview.html A specific developmental disorder that involves difficulty in scholastic skills such as reading, writing, spelling, reasoning, recalling and/or organizing information resulting from the brain's inability to receive and process information. DOID:2847 CSP2005:2483-6402 ICD10CM:F81.9 MESH:D007859 NCI:C89334 SNOMEDCT_US_2018_03_01:1855002 UMLS_CUI:C0023186 UMLS_CUI:C0751265 Academic skill disorder learning disorder disease_ontology DOID:8927 learning disability true A viral infectious disease that results_in infection located_in brain and that has_material_basis_in Measles virus which is immune resistant. https://www.ncbi.nlm.nih.gov/pubmed/24073547 CSP2005:2042-2360 GARD:7708 ICD10CM:A81.1 ICD9CM:046.2 MESH:D013344 NCI:C85171 OMIM:260470 SNOMEDCT_US_2018_03_01:84196008 UMLS_CUI:C0038522 Immunosuppressive measles encephalitis Subacute Sclerosing Panencephalitis Subacute sclerosing panencephalitis Van Bogaert's sclerosing leukoencephalitis subacute sclerosing leukoencephalopathy disease_ontology DOID:8970 subacute sclerosing panencephalitis true A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work. DOID:8985 CSP2005:2056-7716 EFO:0000614 GARD:7162 ICD10CM:G47.41 ICD10CM:G47.419 ICD9CM:347.0 MESH:D009290 NCI:C84489 OMIM:161400 OMIM:605841 OMIM:609039 OMIM:612417 OMIM:612851 OMIM:614223 OMIM:614250 ORDO:2073 SNOMEDCT_US_2018_03_01:60380001 UMLS_CUI:C0027404 Narcolepsy, without cataplexy paroxysmal sleep disease_ontology DOID:8986 Xref MGI. narcolepsy http://www.case.edu/EpSO.owl#Narcolepsy https://www.epilepsy.com/learn/professionals/co-existing-disorders/sleep-disorders/narcolepsy true An inherited metabolic disorder that involves peroxisome malfunction. ICD10CM:E71.5 ICD10CM:E71.50 ICD9CM:277.86 ICD9CM_2006:277.86 MESH:D018901 NCI:C85005 UMLS_CUI:C0282528 Peroxisomal disorders are an uncommon cause of epilepsy, usually presenting with seizures in early life, in a neonate or infant with severe neurological impairment. Malformations of cortical development may co-occur in specific peroxisomal disorders, including Zellweger syndrome and neonatal adrenoleucodystrophy. Focal seizures, generalized seizures and epileptic spasms may occur. Diagnosis is through identification of abnormal levels of very long chain fatty acids. Peroxisomal disorder peroxisomal disorder disease_ontology DOID:906 peroxisomal disease true Peroxisomal disorders are an uncommon cause of epilepsy, usually presenting with seizures in early life, in a neonate or infant with severe neurological impairment. Malformations of cortical development may co-occur in specific peroxisomal disorders, including Zellweger syndrome and neonatal adrenoleucodystrophy. Focal seizures, generalized seizures and epileptic spasms may occur. Diagnosis is through identification of abnormal levels of very long chain fatty acids. https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html#peroxisomal A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart. https://www.ncbi.nlm.nih.gov/pubmed/25214788 CSP2005:0729-7721 EFO:0002690 GARD:10253 ICD10CM:M32 ICD10CM:M32.9 ICD9CM:710.0 KEGG:05322 MESH:D008180 MTH:U002054 NCI2004_11_17:C3201 NCI:C3201 OMIM:152700 OMIM:300809 OMIM:605480 OMIM:608437 OMIM:609903 OMIM:609939 OMIM:610065 OMIM:610066 OMIM:612254 OMIM:612378 OMIM:613145 OMIM:614420 ORDO:536 SNOMEDCT_US_2018_03_01:55464009 UMLS_CUI:C0024141 Lupus Erythematosus, systemic SLE - Lupus Erythematosus, systemic disseminated lupus erythematosus disease_ontology DOID:9074 Xref MGI. systemic lupus erythematosus true true A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement. https://www.ncbi.nlm.nih.gov/pubmed/29791879 ICD10CM:G47.52 ICD9CM:327.42 MESH:D020187 UMLS_CUI:C0751772 REM sleep disorders occur when the physiological REM atonia of dreaming sleep does not occur normally, causing individuals to act out the motor movements of their dreams. Kicking, running, shouting and even more complex movements can occur. REM sleep behaviour disorder REM sleep disorder Rapid eye movement sleep behavior disorder Rapid eye movement sleep behaviour disorder Rapid eye movement sleep disorder disease_ontology DOID:9091 REM sleep behavior disorder http://www.case.edu/EpSO.owl#RapidEyeMovementBehaviorDisorder true true REM sleep disorders occur when the physiological REM atonia of dreaming sleep does not occur normally, causing individuals to act out the motor movements of their dreams. Kicking, running, shouting and even more complex movements can occur. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#rem A communication disorder that involves difficulty with the act of speech production. https://www.ncbi.nlm.nih.gov/pubmed/29241678 MESH:D013064 NCI:C5041 UMLS_CUI:C0037822 disease_ontology DOID:92 speech disorder true A sleep disorder that involves involuntary limb movement during sleep. ICD10CM:G47.61 ICD9CM:327.51 MESH:D020189 UMLS_CUI:C0751774 The movements occuring principally in stage 1 and 2 of non-rapid eye movement sleep and are characteristically repetitive stereotyped flexion of toes, ankles, knees and hips though sometimes the upper limbs may also flex. Periodic leg movement nocturnal myoclonus disease_ontology DOID:9207 periodic limb movement disorder http://www.case.edu/EpSO.owl#PeriodicLimbMovementDisorder https://www.epilepsy.com/learn/professionals/co-existing-disorders/sleep-disorders/periodic-limb-movements-and-restless-legs true true The movements occuring principally in stage 1 and 2 of non-rapid eye movement sleep and are characteristically repetitive stereotyped flexion of toes, ankles, knees and hips though sometimes the upper limbs may also flex. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#per-legmov An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids. GARD:5793 ICD10CM:E72.9 ICD9CM:270 ICD9CM:270.9 MESH:D000592 NCI:C97090 SNOMEDCT_US_2018_03_01:42930003 SNOMEDCT_US_2018_03_01:44779003 UMLS_CUI:C0002514 inborn errors of amino acid metabolism disease_ontology DOID:9252 amino acid metabolic disorder An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. DOID:14455 CSP2005:1849-1177 GARD:7383 ICD9CM:270.1 MESH:D010661 MESH:D017042 MTHICD9_2006:270.1 NCI:C81315 OMIM:261600 ORDO:716 UMLS_CUI:C0031485 UMLS_CUI:C0085547 F��lling's disease PKU maternal phenylketonuria phenylalaninemia disease_ontology DOID:9281 OMIM mapping confirmed by DO. [SN]. phenylketonuria https://www.epilepsy.com/learn/professionals/co-existing-disorders/metabolic-disorders/inborn-errors/phenylketonuria true true A communication disorder that involves the processing of linguistic information. https://www.ncbi.nlm.nih.gov/pubmed/29241678 ICD10CM:F80.9 MESH:D007806 NCI:C97155 SNOMEDCT_US_2018_03_01:62305002 UMLS_CUI:C0023015 Language Dysfunction dysphasia disease_ontology DOID:93 language disorder true true true DOID:10750 DOID:10751 DOID:9482 https://www.ncbi.nlm.nih.gov/pubmed/29720810 ICD10CM:H53.42 ICD10CM:H53.45 ICD9CM:368.42 ICD9CM:368.44 ICD9CM_2006:368.42 MESH:D012607 MTHICD9_2006:368.42 SNOMEDCT_US_2018_03_01:33970004 UMLS_CUI:C0029657 UMLS_CUI:C0152192 Blind spot area scotoma Enlarged angioscotoma Enlarged blind spot Enlarged paracaecal scotoma Generalized visual field contraction or constriction Scotoma of blind spot area Sector or arcuate visual field defects disease_ontology DOID:9335 scotoma true true A disease by infectious agent that results in infection, has_material_basis_in Viruses. DOID:1329 https://www.ncbi.nlm.nih.gov/books/NBK83677/ CSP2005:3099-8150 ICD10CM:A94 ICD10CM:B34 ICD10CM:B34.9 ICD9CM:060-066.99 ICD9CM:066.9 MESH:D001102 MESH:D014777 NCI2004_11_17:C3439 NCI:C3439 NCI:C34396 SNOMEDCT_US_2018_03_01:34014006 SNOMEDCT_US_2018_03_01:40610006 UMLS_CUI:C0003723 UMLS_CUI:C0042769 Viral Infection Viral disease virus infection disease_ontology DOID:934 viral infectious disease true A glucose metabolism disease characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both. ICD10CM:E08-E13 ICD9CM:250 MESH:D003920 NCI:C2985 SNOMEDCT_US_2018_03_01:73211009 UMLS_CUI:C0011849 disease_ontology DOID:9351 diabetes mellitus A central nervous system disease that is located_in the brain. DOID:8510 ICD10CM:G93.40 ICD10CM:G93.9 ICD9CM:348.3 ICD9CM:348.30 ICD9CM:348.9 MESH:D001927 NCI:C26920 NCI:C96413 SNOMEDCT_US_2018_03_01:76011009 SNOMEDCT_US_2018_03_01:81308009 UMLS_CUI:C0006111 UMLS_CUI:C0085584 encephalopathy disease_ontology DOID:936 brain disease A brain disease that is characterized by high pressure inside the skull, the brain tissue and cerebrospinal fluid, has_symptom headache, has_symptom vomiting, has_symptom altered mental status, has_symptom papilledema. MESH:D019586 NCI:C84791 SNOMEDCT_US_2018_03_01:28073009 UMLS_CUI:C0151740 Raised intracranial pressure may cause decerebrate or decorticate posturing, which can be paroxysmal and mistaken for tonic-clonic or tonic seizures. Affected individuals with raised intracranial pressure are expected to show signs of encephalopathy including alteration in conscious level (not improving in the minutes after the event, as one would expect in a post-ictal state), abnormalities of tone and reflexes and pupillary abnormality. Raised intracranial pressure disease_ontology DOID:9428 intracranial hypertension true Raised intracranial pressure may cause decerebrate or decorticate posturing, which can be paroxysmal and mistaken for tonic-clonic or tonic seizures. Affected individuals with raised intracranial pressure are expected to show signs of encephalopathy including alteration in conscious level (not improving in the minutes after the event, as one would expect in a post-ictal state), abnormalities of tone and reflexes and pupillary abnormality. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#intracranial A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues. DOID:10583 CSP2005:1849-5707 ICD10CM:E75.6 ICD9CM:272.7 ICD9CM:272.8 MESH:D008064 MTHICD9_2006:272.7 SNOMEDCT_US_2018_03_01:10741005 SNOMEDCT_US_2018_03_01:11455007 UMLS_CUI:C0023794 UMLS_CUI:C0029591 Lipoid storage diseas Lipoidosis inborn lipid storage disorder lipoidosis disease_ontology DOID:9455 lipid storage disease A brain disease that is characterized as an acute inflammation of the brain with flu-like symptoms. DOID:2160 MESH:D004660 NCI:C26760 SNOMEDCT_US_2018_03_01:45170000 UMLS_CUI:C0014038 disease_ontology DOID:9588 encephalitis http://www.case.edu/EpSO.owl#Encephalitis A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement. https://www.ncbi.nlm.nih.gov/pubmed/29791879 GARD:9851 MESH:C580065 ORDO:211062 UMLS_CUI:C1720189 Episodic ataxias are rare autosomal dominant disorders divided into two major categories: episodic ataxia type 1 (EA1) and 2 (EA2) both of which are channelopathies in which a movement disorder and epilepsy may co-exist. Isaacs syndrome disease_ontology DOID:963 Xref MGI. OMIM mapping confirmed by DO. [SN]. Updated outdated UMLS CUI. episodic ataxia true true Episodic ataxias are rare autosomal dominant disorders divided into two major categories: episodic ataxia type 1 (EA1) and 2 (EA2) both of which are channelopathies in which a movement disorder and epilepsy may co-exist. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#episodic-ataxias A diabetes mellitus that results from the body's failure to produce insulin and has_material_basis_in autoimmune destruction of insulin-producing beta cells of the pancreas. https://www.ncbi.nlm.nih.gov/pubmed/30600130 EFO:0001359 GARD:10268 ICD10CM:E10 KEGG:04940 MESH:D003922 NCI:C2986 OMIM:222100 SNOMEDCT_US_2018_03_01:46635009 UMLS_CUI:C0011854 Diabetes Mellitus Type 1 IDDM insulin-dependent diabetes mellitus type I diabetes mellitus disease_ontology DOID:9744 Xref MGI. OMIM mapping confirmed by DO. [SN]. type 1 diabetes mellitus true true An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness. https://www.ncbi.nlm.nih.gov/pubmed/20161538 EFO:0001073 ICD10CM:E66.9 ICD9CM:278.00 MESH:D009765 NCI:C3283 OMIM:601665 SNOMEDCT_US_2018_03_01:5476005 UMLS_CUI:C0028754 disease_ontology DOID:9970 OMIM mapping confirmed by DO. [SN]. obesity true A substance-related disorder that involves the continued use of alcohol or other drugs despite problems related to use of the substance. NCI:C35458 UMLS_CUI:C0439857 disease_ontology DOID:9973 substance dependence A glucose metabolism disease that is characterized by abnormally low levels of blood glucose. ICD10CM:E16.2 ICD9CM:251.2 MESH:D007003 NCI:C3126 SNOMEDCT_US_2018_03_01:66694000 UMLS_CUI:C0020615 Hypoglycaemia disease_ontology DOID:9993 hypoglycemia https://www.epilepsy.com/learn/professionals/co-existing-disorders/metabolic-disorders/electrolyte-abnormalities/hypoglycemia true Flow cytometry is a technique. A technique is a planned process used to accomplish a specific activity or task. PERSON: Melissa Haendel http://en.wikipedia.org/wiki/Technique Diagnostic Test Protocol is added to eagle-i temporarily until a relationship between the informatio entity "protocol" and these planned processes is created. This class refers to the axtual process not the document technique true An drug intervention for cancer. A planned process used to influence one or more factors in a research study, and the independent variable in an interventional study wherein the influence is measured or evaluated. PERSON: Melanie Wilson PERSON: Melissa Haendel intervention educational intervention An intervention which involves education, training programs, and courses in various fields and disciplines, and for training groups of persons. PERSON: Melanie Wilson PERSON: Melanie Wilson https://www.ncbi.nlm.nih.gov/books/NBK100608/ MeSH ID: Q000193 educational intervention true psychological and behavioral intervention Psychological or behavior intervention is a combination of program elements, strategies, or modalities designed to influence psychological or behavioral processes or outcomes. PERSON: Matthew Brush PERSON: Melanie Wilson psychological and behavioral intervention PCR. An assay that generates data about the presence, abundance, structure, function, or activity of biological molecules, or a process that occurs at a molecular level of granularity. PERSON: Nicole Vasilevsky PERSON: Matthew Brush molecular assay A spinal tap may be performed to determine if a patient has a neurological disorder. A technique used to collect cerebrospinal fluid (CSF) from an organism, which involves inserting a needle between the third and fourth lumbar vertebrae in the back and extracting a sample of fluid. PERSON: Nicole Vasilevsky CSF collection Cerebrospinal fluid collection Spinal tap http://www.weissandnewberrymds.com/services.htm https://www.ncbi.nlm.nih.gov/pubmed/26468872 Lumbar Puncture cerebro-spinal tap true A DNA sequencing technique that became commercially available in 2004 and is used by specific commercial platforms that embody a complex interplay of enzymology, chemistry, high-resolution optics, hardware, and software engineering. These instruments allow highly streamlined sample preparation steps prior to DNA sequencing, which provides a significant time savings and a minimal requirement for associated equipment in comparison to the highly automated, multistep pipelines necessary for clone-based high-throughput sequencing. Each technology amplifies single strands of a fragment library and perform sequencing reactions on the amplified strands. The fragment libraries are obtained by annealing platform-specific linkers to blunt-ended fragments generated directly from a genome or DNA source of interest. Because the presence of adapter sequences means that the molecules then can be selectively amplified by PCR, and no bacterial cloning step is required to amplify the genomic fragment in a bacterial intermediate as is done in traditional sequencing approaches. PERSON: Nicole Vasilevsky Genome sequencing High throughput DNA sequencing High throughput nucleotide sequencing NGS Next gen Next gen sequencing Next generation sequencing of target genes Nucleotide sequencing, high-throughput Second generation sequencing Sequencing, high-throughput nucleotide Mardis (2008) Annu. Rev. Genomics Hum. Genet. 9:387-402 https://www.ncbi.nlm.nih.gov/pubmed/30661434 next generation DNA sequencing true Used to study brain function and activity. A physiological assay that uses nuclear magnetic resonance of protons to produce proton density images. PERSON: Nicole Vasilevsky MRI http://wordnetweb.princeton.edu/perl/webwn?s=mri magnetic resonance imaging true true Used to study brain function and activity. A physiological assay that complements magnetic resonance imaging (MRI) as a non-invasive means for the characterization of tissue. While MRI uses the signal from hydrogen protons to form anatomic images, proton MRS uses this information to determine the concentration of brain metabolites such as N-acetyl aspartate (NAA), choline (Cho), creatine (Cr) and lactate in the tissue examined. PERSON: Nicole Vasilevsky MRS http://www.ncbi.nlm.nih.gov/pubmed/16148633 https://www.ncbi.nlm.nih.gov/pubmed/27430454 magnetic resonance spectroscopy true true Phenotype characterization of a transgenic mouse. An assay that generates data about the physical characteristics, physological functions, or behavior of organisms or viruses. PERSON: Nicole Vasilevsky PERSON: Matthew Brush organismal assay PCR. A molecular assay that generates data about the presence, abundance, structure, function, or activity of nucleic acids. PERSON: Nicole Vasilevsky PERSON: Matthew Brush nucleic acid assay Electrocardiogram. An organismal assay designed to capture information pertaining to the the organic processes and phenomena of an organism or any of its parts or of a particular bodily process. PERSON: Nicole Vasilevsky http://www.merriam-webster.com/dictionary/physiology physiological assay MRI. A technique used to create a representation or reproduction of an object's outward form; especially a visual representation (i.e., the formation of an image). PERSON: Nicole Vasilevsky http://en.wikipedia.org/wiki/Imaging imaging technique A physiological assay that utilizes systematic administration of defined procedures to measure specific psychological functions known to be linked to particular brain structures or pathways in humans. PERSON: Nicole Vasilevsky http://en.wikipedia.org/wiki/Neuropsychological_test https://www.ncbi.nlm.nih.gov/pubmed/27789166 neuropsychological evaluation neuropsychological testing true An imaging technique, in which a gamma camera rotates around the patient and takes pictures from many angles, and a tomographic (cross-sectional) image is generated. PERSON: Nicole Vasilevsky SPECT http://www.medterms.com/script/main/art.asp?articlekey=18450 https://www.ncbi.nlm.nih.gov/pubmed/21490734 single photon emission computed tomography true true true Karyotyping of patient to determine if they carry a genetic disease. A molecular assay used to determine the number and appearance of chromosomes in the nucleus of a eukaryotic cell. PERSON: Nicole Vasilevsky Chromosomal analysis http://en.wikipedia.org/wiki/Karyotype https://www.ncbi.nlm.nih.gov/pubmed/29722352 karyotyping true A physiological assay used in the study of sleep and as a diagnostic tool in sleep medicine. PERSON: Nicole Vasilevsky Sleep study http://en.wikipedia.org/wiki/Polysomnography polysomnography true An imaging technique that produces a three-dimensional image or picture of functional processes in the body. The system detects pairs of gamma rays emitted indirectly by a positron-emitting radionuclide (tracer), which is introduced into the body on a biologically active molecule. Three-dimensional images of tracer concentration within the body are then constructed by computer analysis. PERSON: Nicole Vasilevsky PET http://en.wikipedia.org/wiki/Positron_emission_tomography https://www.ncbi.nlm.nih.gov/pubmed/14537108 positron emission tomography true true true A genotyping assay that determines the complete DNA sequence of a cell or organism's genome at a single time. PERSON:Matthew Brush complete genome sequencing entire genome sequencing full genome sequencing whole genome sequence analysis http://en.wikipedia.org/wiki/Whole_genome_sequencing https://www.ncbi.nlm.nih.gov/pubmed/29722352 Includes chromosomal and mitochondiral genomes, and chloroplast genomes in plants. whole genome sequencing true A magnetic resonance imaging technique that measures brain activity by detecting associated changes in blood flow. The procedure is similar to MRI but uses the change in magnetization between oxygen-rich and oxygen-poor blood as its basic measure. PERSON:Tenille Johnson fMRI functional MRI http://en.wikipedia.org/wiki/Functional_magnetic_resonance_imaging functional magnetic resonance imaging true a laboratory test that has a blood specimen as specified input John Judkins Blood test EuPathDB blood test https://www.webmd.com/epilepsy/guide/epilepsy-blood-test true https://www.ncbi.nlm.nih.gov/pubmed/22554135 fma FMA:242176 Broca's area https://www.epilepsydiagnosis.org/seizure/frontal-lobe-overview.html true true https://www.ncbi.nlm.nih.gov/pubmed/17855377 Supracalacrine fma FMA:71055 Supracalcarine cortex (SCAL) true true A multicellular organismal process carried out by any of the organs or tissues in an organ system. An organ system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a biological objective. organ system process biological_process GO:0003008 system process A organ system process carried out at the level of a muscle. Muscle tissue is composed of contractile cells or fibers. biological_process muscle physiological process GO:0003012 muscle system process A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. MIPS_funcat:36.25.09 Wikipedia:Muscle_contraction biological_process GO:0006936 muscle contraction true The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. GO:0023033 MIPS_funcat:30 Wikipedia:Signal_transduction signaling cascade signalling cascade biological_process signaling pathway signalling pathway GO:0007165 Note that signal transduction is defined broadly to include a ligand interacting with a receptor, downstream signaling steps and a response being triggered. A change in form of the signal in every step is not necessary. Note that in many cases the end of this process is regulation of the initiation of transcription. Note that specific transcription factors may be annotated to this term, but core/general transcription machinery such as RNA polymerase should not. signal transduction A series of molecular signals that proceeds with an activated receptor promoting the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, or for basal GPCR signaling the pathway begins with the receptor activating its G protein in the absence of an agonist, and ends with regulation of a downstream cellular process, e.g. transcription. The pathway can start from the plasma membrane, Golgi or nuclear membrane. GO:0038042 https://www.ncbi.nlm.nih.gov/pubmed/26721354 MIPS_funcat:30.01.05.05 MIPS_funcat:30.05.02.24 G protein coupled receptor protein signaling pathway G protein coupled receptor protein signalling pathway G-protein coupled receptor protein signal transduction G-protein coupled receptor protein signaling pathway G-protein coupled receptor signalling pathway G-protein-coupled receptor protein signalling pathway GPCR signaling pathway GPCR signalling pathway G-protein coupled receptor signaling pathway via GPCR dimer dimeric G-protein coupled receptor signaling pathway dimeric G-protein coupled receptor signalling pathway biological_process GO:0007186 G protein-coupled receptor signaling pathway true The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity. janelomax 2012-09-20T14:06:08Z GO:0023032 GO:0044708 GO:0044709 Wikipedia:Behavior behavioral response to stimulus behaviour behavioural response to stimulus biological_process single-organism behavior GO:0007610 1. Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation reviews. 2. While a broader definition of behavior encompassing plants and single cell organisms would be justified on the basis of some usage (see PMID:20160973 for discussion), GO uses a tight definition that limits behavior to animals and to responses involving the nervous system, excluding plant responses that GO classifies under development, and responses of unicellular organisms that has general classifications for covering the responses of cells in multicellular organisms (e.g. cell chemotaxis). behavior The activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. The main stages involved in the formation and retrieval of memory are encoding (processing of received information by acquisition), storage (building a permanent record of received information as a result of consolidation) and retrieval (calling back the stored information and use it in a suitable way to execute a given task). https://www.ncbi.nlm.nih.gov/pubmed/28089585 Wikipedia:Memory biological_process GO:0007613 memory true true biological_process A biological process represents a specific objective that the organism is genetically programmed to achieve. Biological processes are often described by their outcome or ending state, e.g., the biological process of cell division results in the creation of two daughter cells (a divided cell) from a single parent cell. A biological process is accomplished by a particular set of molecular functions carried out by specific gene products (or macromolecular complexes), often in a highly regulated manner and in a particular temporal sequence. janelomax 2012-09-19T15:05:24Z GO:0000004 GO:0007582 GO:0044699 Wikipedia:Biological_process biological process physiological process biological_process single organism process single-organism process GO:0008150 Note that, in addition to forming the root of the biological process ontology, this term is recommended for use for the annotation of gene products whose biological process is unknown. When this term is used for annotation, it indicates that no information was available about the biological process of the gene product annotated as of the date the annotation was made; the evidence code "no data" (ND), is used to indicate this. biological_process Any process that is carried out at the cellular level, but not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. janelomax 2012-12-11T16:56:55Z GO:0008151 GO:0044763 GO:0050875 cell physiology cellular physiological process cell growth and/or maintenance biological_process single-organism cellular process GO:0009987 cellular process The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state. GO:0007222 https://www.ncbi.nlm.nih.gov/pubmed/18976727 MIPS_funcat:30.05.02.20 Wg signaling pathway Wg signalling pathway Wingless signaling pathway Wingless signalling pathway Wnt receptor signaling pathway Wnt receptor signalling pathway frizzled signaling pathway frizzled signalling pathway biological_process Wnt-activated signaling pathway GO:0016055 Wnt signaling pathway true A biological process that directly contributes to the process of producing new individuals by one or two organisms. The new individuals inherit some proportion of their genetic material from the parent or parents. janelomax 2012-09-19T15:56:06Z GO:0044702 biological_process single organism reproductive process GO:0022414 reproductive process A physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. biological_process GO:0022600 digestive system process The progression of physiological phases, occurring in the endometrium during the menstrual cycle that recur at regular intervals during the reproductive years. The menstrual cycle is an ovulation cycle where the endometrium is shed if pregnancy does not occur. biological_process GO:0022601 menstrual cycle phase Any biological process, occurring at the level of a multicellular organism, pertinent to its function. janelomax 2012-09-19T16:07:47Z GO:0044707 GO:0050874 organismal physiological process biological_process single-multicellular organism process GO:0032501 multicellular organismal process The cyclic, physiologic discharge through the vagina of blood and endometrial tissues from the nonpregnant uterus. Wikipedia:Menstruation biological_process GO:0042703 menstruation true The hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow. https://www.ncbi.nlm.nih.gov/books/NBK2605/ Wikipedia:Erection#Penile_erection biological_process GO:0043084 penile erection true The process, occurring above the cellular level, that is pertinent to the reproductive function of a multicellular organism. This includes the integrated processes at the level of tissues and organs. organismal reproductive process reproductive process in a multicellular organism biological_process GO:0048609 multicellular organismal reproductive process The behavior in which an organism sheds tears, often accompanied by non-verbal vocalizations and in response to external or internal stimuli. cry crying behavior true true The process of biting and mashing food with the teeth prior to swallowing. midori 2010-02-10T11:19:48Z https://www.ncbi.nlm.nih.gov/pubmed/2782045 chewing biological_process GO:0071626 mastication true true A series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway starts with reception of an intracellular signal (e.g. DNA damage, endoplasmic reticulum stress, oxidative stress etc.), and ends when the execution phase of apoptosis is triggered. The intrinsic apoptotic signaling pathway is crucially regulated by permeabilization of the mitochondrial outer membrane (MOMP). paola 2011-11-23T09:40:50Z GO:0008629 https://www.ncbi.nlm.nih.gov/pubmed/17371290 intrinsic apoptotic pathway intrinsic apoptotic signalling pathway mitochondrial-mediated apoptotic pathway intrinsic apoptosis biological_process induction of apoptosis by intracellular signals GO:0097193 The signals that start intrinsic apoptosis may come from extracellular sources (e.g. oxidative stress, UV exposure), but the reception of the signal and thus the signaling pathway start inside the cell (as a result of DNA damage, redox imbalance, etc.). Examples are ZPR9 (ZNF622) and ASK1 (MAP3K5) (UniProt symbols Q969S3 and Q99683) in PMID:21771788. A diagram of the intrinsic apoptotic pathway including examples of molecular players can be found in Figure 2 in PMID:21760595. intrinsic apoptotic signaling pathway true Dysfunction of the urinary bladder. HP:0004424 HP:0008731 UMLS:C3806583 Poor bladder function human_phenotype HP:0000009 Functional abnormality of the bladder An abnormality of the urinary bladder. UMLS:C0149632 human_phenotype HP:0000014 Abnormality of the bladder An abnormality of the urinary system. UMLS:C4021821 Urinary tract abnormalities Urinary tract abnormality Urinary tract anomalies human_phenotype HP:0000079 Abnormality of the urinary system A phenotypic abnormality. UMLS:C4021819 Organ abnormality human_phenotype HP:0000118 This is the root of the phenotypic abnormality subontology of the HPO. Phenotypic abnormality The presence of any abnormality of the genitourinary system. HP:0008658 HP:0008688 HP:0008704 HP:0008713 MSH:D014564 SNOMEDCT_US:287085006 SNOMEDCT_US:42030000 UMLS:C0042063 UMLS:C0080276 UMLS:C4020895 Abnormality of the GU system Genitourinary abnormality Genitourinary tract anomalies Genitourinary tract malformation Urogenital abnormalities Urogenital anomalies human_phenotype Genitourinary disease Genitourinary dysplasia HP:0000119 Abnormality of the genitourinary system An abnormality of head and neck. UMLS:C4021817 Abnormality of head or neck Head and neck abnormality human_phenotype HP:0000152 Abnormality of head or neck An abnormality of the mouth. MSH:D009056 SNOMEDCT_US:128334002 UMLS:C0026633 Abnormal mouth Abnormality of the mouth human_phenotype HP:0000153 Abnormality of the mouth An abnormality of the head. UMLS:C4021812 Abnormal head Abnormality of the head Head abnormality human_phenotype HP:0000234 Abnormality of the head An abnormality of the face. Abnormality of the countenance Abnormality of the physiognomy Abnormality of the visage Disorder of face SNOMEDCT_US:118930001 SNOMEDCT_US:32003007 SNOMEDCT_US:398206004 SNOMEDCT_US:398302004 UMLS:C0266617 UMLS:C1290857 UMLS:C4025871 Abnormal face Abnormality of the face Facial abnormality Disorder of the face human_phenotype Anomaly of face Anomaly of the face Facial anomaly HP:0000271 Abnormality of the face An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve). UMLS:C4025865 Abnormality of facial muscles Facial muscle issue human_phenotype HP:0000301 Facial muscles control facial expression and are innervated by the seventh cranial nerve. Facial muscles around the eye are responsible for eye blink and eyelid closure. Abnormality of facial musculature HP:0000284 UMLS:C4025863 Abnormality of the eye region Abnormality of the region around the eyes Anomaly of the orbital region of the face Deformity of the orbital region of the face Malformation of the orbital region of the face human_phenotype HP:0000315 Abnormality of the orbital region Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve). HP:0004651 https://www.ncbi.nlm.nih.gov/pubmed/29961525 MSH:D005155 SNOMEDCT_US:1070000 UMLS:C0270871 Involuntary facial contraction Involuntary facial quivering human_phenotype HP:0000317 Facial myokymia may be caused by a plaque of multiple sclerosis or have other causes. Facial myokymia true true An abnormality of the sensory perception of sound. UMLS:C4025860 Abnormal hearing Hearing abnormality human_phenotype HP:0000364 According to the World Health Organization, deafness refers to the complete loss of hearing ability in one or two ears. Hearing impairment refers to both complete and partial loss of the ability to hear. Hearing abnormality A decreased magnitude of the sensory perception of sound. HP:0000404 HP:0001728 HP:0001729 HP:0001754 HP:0008560 HP:0008563 Fyler:4868 MSH:D003638 MSH:D034381 SNOMEDCT_US:103276001 SNOMEDCT_US:15188001 SNOMEDCT_US:343087000 SNOMEDCT_US:95828007 UMLS:C0011053 UMLS:C0018772 UMLS:C0339789 UMLS:C1384666 Congenital deafness Congenital hearing loss Deafness Hearing defect Hearing impairment human_phenotype Hearing loss Hypoacusis HP:0000365 Hearing loss can be categorized by which part of the auditory system is damaged, as conductive hearing loss, sensorineural hearing loss, and mixed hearing loss. Another axis of classification uses the degree of hearing impairment. The degree of hearing loss is computed by using a three frequency average taken at 500 Hz, 1,000 Hz and 2,000 Hz. The average of these three frequencies is called the Pure Tone Average (PTA). 0-20 dB is considered normal, 21-40 dB mild loss, 41-60 dB moderate loss, 61-70 dB moderately severe loss,71-90 dB severe loss, and greater than 90 dB profound loss. Note that the word deafness is occasionally used to describe partial hearing loss. The World Health Organization uses the word deafness to refer to complete loss of the ability to hear, and hearing impairment to refer to any degree of reduced hearing. Hearing impairment https://rarediseases.org/rare-diseases/progressive-myoclonus-epilepsy/ true Any abnormality of the eye, including location, spacing, and intraocular abnormalities. MSH:D005124 MSH:D005128 SNOMEDCT_US:19416009 SNOMEDCT_US:371405004 SNOMEDCT_US:371409005 UMLS:C0015393 UMLS:C0015397 Abnormal eye Abnormality of the eye human_phenotype Eye disease HP:0000478 Abnormality of the eye An abnormality in voluntary or involuntary eye movements or their control. HP:0006860 https://www.ncbi.nlm.nih.gov/pubmed/12365699 SNOMEDCT_US:103252009 UMLS:C0497202 Abnormal extraocular movement Abnormal extraocular movements Abnormal eye motility Abnormal eye movement Abnormal eye movements Abnormal motility of the globe of the eye Abnormal movement of the globe of the eye Abnormal ocular movements Abnormality of eye movement Eye movement abnormalities Eye movement issue Ocular movement abnormalities Oculomotor abnormalities human_phenotype HP:0000496 Abnormality of eye movement true Abnormality of eyesight (visual perception). UMLS:C4025846 Abnormality of sight Abnormality of vision Vision issue human_phenotype HP:0000504 Abnormality of vision Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. HP:0000516 HP:0000566 HP:0007758 HP:0007860 HP:0007983 MSH:D014786 MSH:D015354 SNOMEDCT_US:246635007 SNOMEDCT_US:397540003 SNOMEDCT_US:7973008 UMLS:C0042798 UMLS:C3665347 Impaired vision Loss of eyesight Poor vision Visual impairment human_phenotype HP:0000505 Visual impairment Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object. https://www.ncbi.nlm.nih.gov/pubmed/?term=%27Abnormal+conjugate+eye+movement%27+epilepsy UMLS:C1845274 Disconjugate eye movements human_phenotype HP:0000549 Abnormal conjugate eye movement true true An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements. HP:0000604 UMLS:C1842584 UMLS:C4025841 Abnormality of saccadic eye movements human_phenotype Impaired saccades HP:0000570 Fast (saccadic) eye movements comprise voluntary or involuntary refixation movements, the fast phase of vestibular nystagmus, optokinetic nystagmus, and microsaccades. Abnormal saccadic eye movements true Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object. SNOMEDCT_US:246768008 UMLS:C0423082 human_phenotype HP:0000571 Hypometric saccades An abnormality of the ear. SNOMEDCT_US:275259005 UMLS:C0266589 Abnormality of the ear Ear anomaly human_phenotype HP:0000598 Either a morphological abnormality or hearing deficit. This should be split more cleanly in the future. Abnormality of the ear An abnormality of the nervous system. HP:0001333 HP:0006987 Brain and/or spinal cord issue MSH:D009421 SNOMEDCT_US:88425004 UMLS:C0497552 Abnormality of the nervous system Neurologic abnormalities Neurological abnormality human_phenotype HP:0000707 The nervous system comprises the neuraxis (brain, spinal cord, and ventricles), the autonomic nervous system, the enteric nervous system, and the peripheral nervous system. Abnormality of the nervous system An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities. HP:0000715 HP:0002368 HP:0002456 MSH:D000066553 MSH:D001526 SNOMEDCT_US:25786006 SNOMEDCT_US:277843001 UMLS:C0004941 UMLS:C0233514 Behavioral abnormality Behavioral changes Behavioral disorders Behavioral disturbances Behavioral problems Behavioral/psychiatric abnormalities Behavioural abnormality Behavioural/Psychiatric abnormality Psychiatric disorders Psychiatric disturbances human_phenotype Behavioral symptoms HP:0000708 Behavioral abnormality Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or out of proportion to events and circumstances. HP:0008766 https://www.ncbi.nlm.nih.gov/pubmed/8441366 SNOMEDCT_US:18963009 UMLS:C0085633 Emotional instability human_phenotype HP:0000712 Emotional lability true Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior. https://www.ncbi.nlm.nih.gov/pubmed/17260039 https://www.ncbi.nlm.nih.gov/pubmed/20301709 https://www.ncbi.nlm.nih.gov/pubmed/28139515 MSH:D003866 SNOMEDCT_US:21061000119107 SNOMEDCT_US:35489007 SNOMEDCT_US:78667006 UMLS:C0011581 Depression human_phenotype Depressive disorder HP:0000716 Depressivity true true A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral. HP:0008758 HP:0008759 https://www.ncbi.nlm.nih.gov/pubmed/29791879 MSH:D013239 MSH:D019956 SNOMEDCT_US:5507002 SNOMEDCT_US:84328007 UMLS:C0038271 UMLS:C0038273 Stereotypies (or mannerisms) are repetitive movements, postures, or utterances that may be simple (such as body rocking, head banging) or complex (such as finger movements or wrist flexion/extension). They may be primary (seen in otherwise normal individuals) or secondary (associated with autism, intellectual impairment and other disorders). Stereotypies can be distinguished from epileptic automatisms by the characteristic movements (a video of events can be helpful to aid diagnosis). Repetitive movements Repetitive or self-injurious behavior Stereotyped behavior Stereotyped, repetitive behaviour Stereotypic behavior Stereotypic behaviors Stereotypical motor behaviors Sterotyped behavior human_phenotype Stereotyped behaviors HP:0000733 An abnormality of behavior characterized by one or more stereotyped and restricted patterns of behavior such as inflexible adherence to specific, nonfunctional routines or rituals, stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements), or persistent preoccupation with parts of objects. The behaviour does not serve an observable goal. In general the movements are not aimed at the environment, but at the person itself. Stereotypical behaviour is seen especially in children with sensory, intellectual and/or cognitive handicaps. Stereotypy true true Stereotypies (or mannerisms) are repetitive movements, postures, or utterances that may be simple (such as body rocking, head banging) or complex (such as finger movements or wrist flexion/extension). They may be primary (seen in otherwise normal individuals) or secondary (associated with autism, intellectual impairment and other disorders). Stereotypies can be distinguished from epileptic automatisms by the characteristic movements (a video of events can be helpful to aid diagnosis). https://www.epilepsydiagnosis.org/epilepsy-imitators.html#stereotypies Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible. MSH:D004775 SNOMEDCT_US:8009008 UMLS:C0014394 human_phenotype HP:0000805 Enuresis An abnormality of the endocrine system. MSH:D004700 SNOMEDCT_US:362969004 UMLS:C0014130 UMLS:C4025823 human_phenotype Endocrine system disease HP:0000818 The endocrine system is composed of glands that secrete hormones directly into the bloodstream and includes the following glands: thyroid, parathyroids, adrenals, pancreas, gonads (testicles and ovaries), and pituitary. Many other organs, such as the kidney, liver, and heart, have secondary endocrine functions. Abnormality of the endocrine system The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys. https://www.ncbi.nlm.nih.gov/pubmed/13365719 https://www.ncbi.nlm.nih.gov/pubmed/30838190 MSH:D011629 SNOMEDCT_US:123527003 SNOMEDCT_US:400179000 UMLS:C0034013 Early onset of puberty Early puberty human_phenotype HP:0000826 Precocious puberty http://www.case.edu/EpSO.owl#PrecociousPuberty true true An abnormality of the skeletal system. UMLS:C4021790 Abnormality of the skeletal system Skeletal abnormalities Skeletal anomalies human_phenotype HP:0000924 Abnormality of the skeletal system An abnormality of the skin. HP:0001478 HP:0001479 HP:0005591 HP:0006736 HP:0007415 HP:0007580 MSH:D012868 MSH:D012871 SNOMEDCT_US:199879009 SNOMEDCT_US:95320005 UMLS:C0037268 UMLS:C0037274 Abnormality of the skin dermatopathy dermopathy human_phenotype Skin abnormality HP:0000951 Abnormality of the skin Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin. HP:0001068 MSH:D001821 MSH:D012393 SNOMEDCT_US:20255002 SNOMEDCT_US:271811009 SNOMEDCT_US:398909004 UMLS:C0005874 UMLS:C0035854 UMLS:C0239488 UMLS:C4020880 Blushed cheeks Blushing Red face Red in the face Rosacea human_phenotype Ruddy face HP:0001041 Facial erythema true https://www.ncbi.nlm.nih.gov/pubmed/29172092 SNOMEDCT_US:12184005 UMLS:C3887875 Partial loss of field of vision Visual field defects human_phenotype HP:0001123 Visual field defect true Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. https://www.ncbi.nlm.nih.gov/pubmed/31603835 MSH:D010291 SNOMEDCT_US:127377003 SNOMEDCT_US:20022000 UMLS:C0018989 Weakness of one side of body human_phenotype HP:0001269 Hemiparesis true true A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. HP:0002388 https://www.ncbi.nlm.nih.gov/pubmed/27188686 MSH:D009122 SNOMEDCT_US:41581000 SNOMEDCT_US:56731001 UMLS:C0026826 Hypertonicity Increased muscle tone Spasticity and rigidity of muscles human_phenotype Muscle hypertonia HP:0001276 Spasticity is a term that is often used interchangeably with hypertonia. Spasticity, however, is a particular type of hypertonia in which the muscles' spasms are increased by movement. In this type, patients usually have exaggerated reflex responses. Hypertonia true true Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. peter 2008-02-25T10:37:00Z MSH:D013575 SNOMEDCT_US:271594007 SNOMEDCT_US:272030005 SNOMEDCT_US:309585006 UMLS:C0039070 Fainting spell human_phenotype Syncope and anoxic seizures HP:0001279 Syncope https://www.epilepsydiagnosis.org/epilepsy-imitators.html#syncope true An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations. HP:0002531 HP:0003129 UMLS:C4021781 Neurophysiologic abnormalities Neurophysiologic abnormality human_phenotype Electrophysiological Data HP:0001311 Abnormal nervous system electrophysiology http://www.case.edu/EpSO.owl#ElectrophysiologicalData Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. HP:0002535 HP:0007087 Jerking MSH:D009207 SNOMEDCT_US:127324008 SNOMEDCT_US:17450006 UMLS:C0027066 UMLS:C1854302 Myoclonic jerks myoclonic contraction myoclonic jerk human_phenotype Involuntary jerking movements HP:0001336 Myoclonus may be synchronous (several muscle contracting simultaneously), spreading (several muscles contracting in sequence), or asynchronous (several muscles contracting with varying and unpredictable relative timing). Myoclonus is characterized by sudden unidirectional movement due to muscle contraction (positive myoclonus) or due to sudden brief muscle relaxation (negative myoclonus). Myoclonus true Hemorrhage into the parenchyma of the brain. HP:0002137 https://www.ncbi.nlm.nih.gov/pubmed/2761703 MSH:D002543 MSH:D020300 SNOMEDCT_US:230706003 SNOMEDCT_US:274100004 UMLS:C0553692 UMLS:C2937358 Bleeding in brain Cerebral haemorrhage Intracerebral hemorrhage human_phenotype Hemorrhagic stroke HP:0001342 A cerebral hemorrhage (or intracerebral hemorrhage, ICH), is a type of intracranial hemorrhage that occurs within the brain tissue itself. Cerebral hemorrhage http://www.case.edu/EpSO.owl#CerebralHemorrhage true A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. HP:0001372 HP:0001381 HP:0005053 HP:0005189 HP:0005660 MSH:D003286 SNOMEDCT_US:203598005 SNOMEDCT_US:385522000 SNOMEDCT_US:55033002 SNOMEDCT_US:57048009 SNOMEDCT_US:7890003 SNOMEDCT_US:88565003 UMLS:C0009917 UMLS:C0009918 UMLS:C0333068 UMLS:C1850530 Contracture Flexed joint that cannot be straightened Flexion contractures Flexion contractures of joints Joint contracture Joint contractures human_phenotype Contractures HP:0001371 Flexion contracture true HP:0008904 UMLS:C0262361 Abnormal growth Growth abnormality Growth issue human_phenotype HP:0001507 Growth abnormality Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. HP:0001422 HP:0008849 HP:0008919 HP:0008927 MSH:D007230 SNOMEDCT_US:267258002 SNOMEDCT_US:276610007 UMLS:C0024032 UMLS:C0235991 Birth weight less than 10th percentile Low birth weight Small for gestational age human_phenotype HP:0001518 Small for gestational age https://www.epilepsy.com/learn/about-epilepsy-basics/what-are-risk-factors true An abnormality of the integument, which consists of the skin and the superficial fascia. UMLS:C4025761 human_phenotype HP:0001574 Abnormality of skin, hair, or nails. Abnormality of the integument Any abnormality of the cardiovascular system. MSH:D002318 MSH:D018376 SNOMEDCT_US:49601007 UMLS:C0007222 UMLS:C0243050 Abnormality of the cardiovascular system Cardiovascular abnormality human_phenotype Cardiovascular disease HP:0001626 The cardiovascular system consists of the heart, vasculature, and the lymphatic system. Abnormality of the cardiovascular system An abnormality of the hematopoietic system. HP:0003135 MSH:D006402 SNOMEDCT_US:191124002 SNOMEDCT_US:34093004 UMLS:C0018939 UMLS:C0850715 UMLS:C4020864 Abnormality of blood and blood-forming tissues Abnormality of the hematopoietic system Hematological abnormality human_phenotype Abnormality of the haematopoietic system Hematologic disease HP:0001871 The hematopoietic system comprises the organs that are involved in the production of blood, primarily the bone marrow, spleen, tonsils, and lymph nodes. Abnormality of blood and blood-forming tissues An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. HP:0004830 HP:0004834 HP:0004849 HP:0004862 HP:0004865 HP:0008183 SNOMEDCT_US:248250000 SNOMEDCT_US:64779008 UMLS:C1458140 Bleeding diathesis Bleeding tendency Hemorrhagic diathesis human_phenotype HP:0001892 This term is kept for historical reasons. If possible, a more exact description of the phenotype (i.e., whether there is a vascular, platelet and coagulation defect) should be attempted. Abnormal bleeding HP:0002146 HP:0004355 HP:0004367 UMLS:C4021768 Laboratory abnormality Metabolism abnormality human_phenotype HP:0001939 Abnormality of metabolism/homeostasis Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis). UMLS:C4025731 Abnormal blood clot Abnormal blood clotting human_phenotype HP:0001977 Abnormal thrombosis An abnormal morphology (form) of the face or its components. HP:0002004 HP:0002260 HP:0004643 HP:0004649 HP:0004652 HP:0004655 HP:0004675 HP:0005124 Deformity of face Malformation of face https://www.ncbi.nlm.nih.gov/pubmed/26864574 SNOMEDCT_US:248200007 SNOMEDCT_US:32003007 SNOMEDCT_US:398206004 SNOMEDCT_US:398302004 UMLS:C0266617 UMLS:C0424503 UMLS:C1385263 UMLS:C4072832 UMLS:C4072833 Abnormal facial shape Abnormal morphology of the face Distinctive facies Dysmorphic facial features Dysmorphic facies Facial dysmorphism Unusual facial appearance Unusual facies human_phenotype Distortion of face Funny looking face HP:0001999 This term now covers many of the historical inexact descriptions such as Bird-like facies that probably should be avoided in modern genetics. This portion of the Ontology should be revised. Abnormal facial shape https://www.mendelian.co/symptoms/abnormal-facial-shape-and-polymicrogyria true true A structural abnormality of the central nervous system. HP:0002405 HP:0002413 HP:0002481 HP:0007319 MSH:D002493 SNOMEDCT_US:23853001 UMLS:C0007682 UMLS:C4021765 Abnormality of the central nervous system Morphological abnormality of the CNS human_phenotype Central nervous system disease HP:0002011 Morphological abnormality of the central nervous system Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. https://www.ncbi.nlm.nih.gov/pubmed/30118929 MEDDRA:10047700 MSH:D014839 SNOMEDCT_US:249497008 SNOMEDCT_US:300359004 SNOMEDCT_US:422400008 UMLS:C0042963 Emesis Throwing up Vomiting human_phenotype HP:0002013 Vomiting true true SNOMEDCT_US:16932000 UMLS:C0027498 Nausea and vomiting human_phenotype HP:0002017 Nausea and vomiting Generalized tonic-clonic seizures are generalized seizures with bilateral symmetrical tonic contraction then bilateral clonic contractions of somatic muscles usually associated with autonomic phenomena. HP:0001306 HP:0002407 HP:0007252 MSH:D012640 SNOMEDCT_US:54200006 UMLS:C0494475 Generalized tonic-clonic seizures are bilateral and symmetric generalized motor seizures, that occur in an individual with loss of consciousness. The tonic-clonic seizure consists of a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase, typically in this order, however variations such as clonic-tonic-clonic and myoclonic-tonic-clonic can also occur. Generalised tonic-clonic seizures Generalized clonic-tonic seizures Generalized tonic clonic seizures Grand mal seizures Seizures, generalized tonic-clonic Seizures, generalized, tonic-clonic Seizures, tonic-clonic Tonic-clonic convulsion Tonic-clonic convulsions human_phenotype HP:0002069 In a generalized tonic-clonic seizure, the patient suddenly loses conciousness, the eyes roll back, and the entire body musculature undergoes tonic contractions. In the clonic phase of the seizure, there are rhythmic contractions of the musculature alternating with relaxation of all muscle groups. Loss of sphincter control during the seizure is common. This form of seizure was formerly commonly called grand mal seizure. Generalized tonic-clonic seizures true Generalized tonic-clonic seizures are bilateral and symmetric generalized motor seizures, that occur in an individual with loss of consciousness. The tonic-clonic seizure consists of a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase, typically in this order, however variations such as clonic-tonic-clonic and myoclonic-tonic-clonic can also occur. https://www.epilepsydiagnosis.org/seizure/tonic-clonic-variants-overview.html An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. UMLS:C4018871 Respiratory abnormality human_phenotype HP:0002086 Abnormality of the respiratory system Seizures with sudden, brief (< 100 msec) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). HP:0006869 HP:0006902 HP:0007075 HP:0007202 HP:0007284 HP:0007294 Myoclonic seizures MSH:D004831 MSH:D020191 SNOMEDCT_US:192992007 SNOMEDCT_US:267581004 SNOMEDCT_US:37356005 UMLS:C0014550 UMLS:C0751778 UMLS:C4021759 A myoclonic seizure is a single or series of jerks (brief muscle contractions). Each jerk is typically milliseconds in duration. Myoclonic status epilepticus is characterized by ongoing (> 30 minutes) irregular jerking, often with partially retained awareness. These two features distinguish a myoclonic status epilepticus from a generalized clonic seizure, where consciousness is lost and the jerking is sustained and rhythmic. Generalised myoclonic seizures Myoclonus seizures human_phenotype Myoclonic epilepsy, progressive HP:0002123 Generalized myoclonic seizures true A myoclonic seizure is a single or series of jerks (brief muscle contractions). Each jerk is typically milliseconds in duration. Myoclonic status epilepticus is characterized by ongoing (> 30 minutes) irregular jerking, often with partially retained awareness. These two features distinguish a myoclonic status epilepticus from a generalized clonic seizure, where consciousness is lost and the jerking is sustained and rhythmic. https://www.epilepsydiagnosis.org/seizure/myoclonic-overview.html Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds). MSH:D065706 SNOMEDCT_US:4945003 UMLS:C0266464 Polymicrogyria is a common malformation of cortical development, where there is abnormal layering, excessive gyration (folding), and gyral fusion in the cerebral cortex. Polymicrogyria may be bilateral, or less commonly unilateral. It occurs most frequently in the perisylvian cortex (80%) and can result in the Sylvian fissure having an abnormal extension and orientation. More grooves in brain human_phenotype HP:0002126 Polymicrogyria, one of the most common malformations of cortical development, is characterized histologically by the appearance of an excessive number of small cortical folds, often fused together, with disordered cortical lamination. Polymicrogyria true Polymicrogyria is a common malformation of cortical development, where there is abnormal layering, excessive gyration (folding), and gyral fusion in the cerebral cortex. Polymicrogyria may be bilateral, or less commonly unilateral. It occurs most frequently in the perisylvian cortex (80%) and can result in the Sylvian fissure having an abnormal extension and orientation. https://www.epilepsydiagnosis.org/aetiology/polymicrogyria-overview.html Status epilepticus is a type of prolonged seizure. The definition is based on both the length of the seizure and the time point (t1) beyond which the seizure should be regarded as continuous seizure activity. The second time point (t2) is the time of ongoing seizure activity after which there is a risk of long-term consequences. See the comment for information on t1 and t2. MSH:D013226 SNOMEDCT_US:230456007 UMLS:C0038220 Repeated seizures without recovery between them human_phenotype HP:0002133 In 2015 the ILAE Task Force on Classification of Status Epilepticus concluded that the evidence to define time points 1 and 2 in humans was incomplete. For tonic-clonic status epilepticus t1 is defined as 5 minutes and t2 as 30 minutes. For focal status epilepticus with impaired consciousness t1 is defined as 10 minutes and t2 over 60 minutes. For absence status epilepticus t1 is defined as 10-15 minutes and t2 is unknown. Status epilepticus is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures. Status epilepticus Hemorrhage occurring between the arachnoid mater and the pia mater. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2744032/ MSH:D013345 SNOMEDCT_US:21454007 UMLS:C0038525 Subarachnoid (aneurysmal) Hemorrhage Subarachnoid haemorrhage human_phenotype HP:0002138 Bleeding into the subarachnoid space the area between the arachnoid membrane and the pia mater surrounding the brain. Subarachnoid hemorrhage may occur spontaneously, usually from a ruptured cerebral aneurysm, or may result from head injury. Subarachnoid hemorrhage http://www.case.edu/EpSO.owl#SubarachnoidHemorrhage true MSH:D013064 UMLS:C0037822 Speech disorder Speech impairment Speech impediment human_phenotype HP:0002167 Neurological speech impairment Hemorrhage occurring within the skull. MSH:D020300 SNOMEDCT_US:1386000 UMLS:C0151699 Bleeding within the skull Intracranial haemorrhage human_phenotype HP:0002170 Intracranial hemorrhage A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps. UMLS:C1843921 Balance impairment human_phenotype Abnormal retropulsion test Imbalance HP:0002172 Postural instability https://www.epilepsy.com/learn/types-seizures/atonic-seizures true true Seizures of with initial involvement of both cerebral hemispheres. HP:0002409 HP:0007114 HP:0007339 MSH:D012640 SNOMEDCT_US:246545002 UMLS:C0234533 UMLS:C1833488 A generalized seizure is conceptualized as originating at some point within, and rapidly engaging, bilaterally distributed networks. Such bilateral networks can include cortical and subcortical structures, but do not necessarily include the entire cortex. Although individual seizure onsets can appear localized, the location and lateralization are not consistent from one seizure to another. Generalized seizures Generalized-onset seizures human_phenotype HP:0002197 Generalized seizures are sub-categorized into several major types: generalized tonic clonic; myoclonic; absence; and atonic. Generalized-onset seizure true A generalized seizure is conceptualized as originating at some point within, and rapidly engaging, bilaterally distributed networks. Such bilateral networks can include cortical and subcortical structures, but do not necessarily include the entire cortex. Although individual seizure onsets can appear localized, the location and lateralization are not consistent from one seizure to another. https://www.epilepsydiagnosis.org/seizure/generalized-seizure-groupoverview.html A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive. MSH:D020938 UMLS:C0752323 The movement involves sustained rhythmic jerking, this may involve a distal limb, one limb or one side of the body. The jerking may spread to involve parts of the body according to their representation on the motor cortex (according to the homunculus), this is known as a Jacksonian march. Focal clonic seizures Localised clonic seizure Localized clonic seizure Partial clonic seizure Segmental clonic seizure human_phenotype HP:0002266 The movement involves sustained rhythmic jerking, this may involve a limb, half the face or one side of the body, and may spread according to a Jacksonian march: The jerking may spread to involve parts of the body according to their representation on the motor cortex (according to the homunculus). Focal clonic seizure http://www.medlink.com/article/focal_clonic_seizures true true The movement involves sustained rhythmic jerking, this may involve a distal limb, one limb or one side of the body. The jerking may spread to involve parts of the body according to their representation on the motor cortex (according to the homunculus), this is known as a Jacksonian march. https://www.epilepsydiagnosis.org/seizure/motor-overview.htm Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter. HP:0002281 HP:0007314 MSH:D002828 SNOMEDCT_US:128490007 SNOMEDCT_US:416286003 SNOMEDCT_US:417338002 UMLS:C0008519 Grey matter heterotopia is a malformation of cortical development, where cortical cells (grey matter) are present in inappropriate locations in the brain, due to interruption in their migration to their correct location in the cerebral cortex. Grey matter heterotopia may be unilateral or bilateral, singular or multiple, separate or contiguous. Gray matter heterotopias Grey matter heterotopia Heterotopia Heterotopias Neuronal heterotopia human_phenotype HP:0002282 Gray matter heterotopia is caused by clumps of grey matter being located in the wrong part of the brain. It is characterized as a type of cortical malformation. The neurons in heterotopia may appear to be normal, except for their mislocation; nuclear studies have shown glucose metabolism equal to that of normally positioned gray matter. The condition causes a variety of symptoms, but usually includes some degree of epilepsy or recurring seizures, and often affects the brain's ability to function on higher levels. Symptoms range from nonexistent to profound, in which case heterotopia can result in severe seizure disorder, loss of motor skills, and mental retardation. Neuronal heterotopia consists of grey matter within the white matter, and the term grey matter heterotopia is more frequently used. Gray matter heterotopia true Grey matter heterotopia is a malformation of cortical development, where cortical cells (grey matter) are present in inappropriate locations in the brain, due to interruption in their migration to their correct location in the cerebral cortex. Grey matter heterotopia may be unilateral or bilateral, singular or multiple, separate or contiguous. https://www.epilepsydiagnosis.org/aetiology/grey-matter-heterotopia-overview.html Habitual flow of saliva out of the mouth. https://www.ncbi.nlm.nih.gov/pubmed/30125861 MSH:D012798 SNOMEDCT_US:275295002 SNOMEDCT_US:53827007 SNOMEDCT_US:62718007 UMLS:C0013132 UMLS:C0037036 Dribbling Drooling Sialorrhea human_phenotype HP:0002307 Drooling true true Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. HP:0000266 HP:0001354 https://www.ncbi.nlm.nih.gov/books/NBK2605/ MSH:D006261 SNOMEDCT_US:25064002 UMLS:C0018681 Headache Headaches human_phenotype HP:0002315 Headache is one of the most common types of recurrent pain as well as one of the most frequent symptoms in neurology. In addition to occasional headaches, there are well-defined headache disorders that vary in incidence, prevalence and duration and can be divided into two broad categories. In secondary headache disorders, headaches are attributed to another condition, such as brain tumour or head injury; for the primary disorders the headache is not due to another condition. Headache https://www.epilepsy.com/learn/about-epilepsy-basics/what-happens-during-seizure true true true Excessive daytime sleepiness. https://www.ncbi.nlm.nih.gov/books/NBK2605/ MSH:D012894 SNOMEDCT_US:271782001 SNOMEDCT_US:79519003 UMLS:C0013144 Drowsiness Sleepy human_phenotype HP:0002329 Drowsiness true true A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile. MSH:D004828 SNOMEDCT_US:117891000119100 SNOMEDCT_US:79348005 UMLS:C0234974 Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile. If awareness is preserved, the seizure is a focal aware seizure. Previously this seizure type was known as a simple partial seizure. Focal aware seizures Focal seizure with retained awareness Focal seizure without impairment of awareness Focal seizure without impairment of consciousness or awareness Focal seizures without impairment of consciousness or awareness Partial seizure with retained awareness Partial seizure without impairment of awareness Simple partial seizure Simple partial seizures human_phenotype HP:0002349 In the previous (1981) ILAE classification of seizure types, the term 'simple partial seizure' was used to denote a focal aware seizure. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile. If awareness is preserved throughout, then the seizure is a focal aware seizure. Previously the terms simple partial was used to describe focal aware seizures. Focal aware seizure true Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile. If awareness is preserved, the seizure is a focal aware seizure. Previously this seizure type was known as a simple partial seizure. https://www.epilepsydiagnosis.org/seizure/aware-overview.html Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp. HP:0001346 HP:0002429 HP:0006841 https://www.ncbi.nlm.nih.gov/pubmed/12199726 SNOMEDCT_US:274521009 UMLS:C0151611 Abnormal EEG Abnormal electroencephalogram EEG abnormalities Electroencephalogram abnormal Electroencephalogram abnormalities human_phenotype HP:0002353 EEG abnormality true A type of focal-onset saeizure characterized by impaired awareness. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile. If awareness is impaired at any point during the seizure, the seizure is a focal impaired awareness seizure. The degree of loss of awareness may vary. HP:0002278 HP:0011146 SNOMEDCT_US:4103001 UMLS:C0149958 UMLS:C0270834 If awareness is impaired at any point during the seizure, the seizure is a focal impaired awareness seizure. The degree of loss of awareness may vary. The terms complex partial seizure and focal dyscognitive seizure were previously used to denote a focal impaired awareness seizure. Complex focal seizures Complex partial seizures DialepticSeizure Dyscognitive seizures Focal impaired awareness seizures Focal seizures with impairment of consciousness or awareness human_phenotype Dialeptic seizure HP:0002384 In the previous (1981) ILAE classification of seizure types, the term 'complex partial seizure' was used to denote a focal impaired awareness seizure. The term Dialeptic seizure referred to seizures that have as their main ictal manifestations an alteration of consciousness that is independent of ictal EEG manifestations. The term is no longer recommended according to the 2017 ILAE seizure classification. Focal impaired awareness seizure http://www.case.edu/EpSO.owl#DialepticSeizure true If awareness is impaired at any point during the seizure, the seizure is a focal impaired awareness seizure. The degree of loss of awareness may vary. The terms complex partial seizure and focal dyscognitive seizure were previously used to denote a focal impaired awareness seizure. https://www.epilepsydiagnosis.org/seizure/focal-impaired-awareness-overview.html The presence of complexes of repetitive spikes and waves in EEG. UMLS:C4021757 EEG: spike and multispike waves, 3-4 hz electroencephalogram with polyspike wave complex human_phenotype Polyspike-and-Slow-Wave Complex HP:0002392 EEG with polyspike wave complexes true Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle. MSH:D020385 SNOMEDCT_US:27678003 UMLS:C0684219 human_phenotype HP:0002411 Myokymia is characterized electrophysiologically by rhythmic or semi-rhythmic bursts of a single motor unit discharging several times a second at a rate of 3-8 Hz. These myokymic discharges are nonsynchronous in different muscles or even in the same muscle, with intervals of 100-200 milliseconds separating individual bursts. The spontaneous discharges are not initiated by voluntary movement, although they may increase with such activity. Myokymia The presence of a hamartoma of the hypothalamus. MSH:C537158 SNOMEDCT_US:237714006 UMLS:C0342418 Hypothalamic hamartomas are rare malformations of fetal brain development, affecting development of the hypothalamus, and are placed within the spectrum of grey matter heterotopia. Pathologically, lesions show mature neuronal and glial cells and some myelinated fibres. human_phenotype Hamartoma HP:0002444 Hypothalamic hamartoma is a malformation, not a tumor. Hypothalamic hamartomas grow at the rate of, or slower than, the surrounding brain tissue. A hamartoma of the hypothalamus appears as a non-enhancing mass in the floor of the third ventricle posterior to the optic chiasm that is isointense to grey matter on T1 and T2 pulse sequences of an MRI, but may have distinct intensity on FLAIR (neither cranial CT examination nor cranial ultrasound examination is adequate for diagnosis of hypothalamic hamartom). Individuals with hypothalamic hamartomas may have neurologic symptoms, although most are asymptomatic. Removal of the hypothalamic hamartoma is not indicated and often results in iatrogenic pituitary insufficiency. Hypothalamic hamartoma http://www.case.edu/EpSO.owl#Hamartoma http://www.case.edu/EpSO.owl#HypothalamicHamartoma true true true Hypothalamic hamartomas are rare malformations of fetal brain development, affecting development of the hypothalamus, and are placed within the spectrum of grey matter heterotopia. Pathologically, lesions show mature neuronal and glial cells and some myelinated fibres. https://www.epilepsydiagnosis.org/aetiology/hh-overview.html A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs. UMLS:C1504405 UMLS:C1839042 Corticospinal tract dysfunction Pyramidal tract dysfunction human_phenotype HP:0002493 A functional deficit of the tract that conveys nervous impulses from the motor cortex of the brain to the spinal cord. The corticospinal tract mediates discrete voluntary skilled movements. Clinical features of corticospinal tract dysfunction may include spasticity and weakness, particularly affecting the lower limbs, as well as hyperreflexia, clonus at the ankles and knees, and extensor plantar responses (Babinski response). Upper motor neuron dysfunction Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG). https://www.ncbi.nlm.nih.gov/pubmed/29656099 MSH:D013036 SNOMEDCT_US:28055006 UMLS:C0684276 Hypsarrhythmia by EEG human_phenotype HP:0002521 Hypsarrhythmia http://www.case.edu/EpSO.owl#Hypsarrhythmia true true Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes. UMLS:C1836923 GI dysmotility human_phenotype HP:0002579 Gastrointestinal dysmotility An abnormality of the vasculature. UMLS:C0241657 Abnormality of blood vessels Abnormality of the vasculature Vascular abnormalities human_phenotype HP:0002597 Abnormality of the vasculature Low Blood Pressure, vascular hypotension. HP:0005127 HP:0006701 https://www.ncbi.nlm.nih.gov/pubmed/30378543 MSH:D007022 SNOMEDCT_US:45007003 UMLS:C0020649 Arterial hypotension Low blood pressure human_phenotype HP:0002615 Hypotension true true An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour). HP:0003008 HP:0006741 Abnormal tissue mass MSH:D009369 NCIT:C3262 SNOMEDCT_US:108369006 SNOMEDCT_US:363346000 UMLS:C0006826 UMLS:C0027651 Epileptogenic tumors are, in the majority, biologically benign lesions that do not usually change over time. As a result, they do not require oncological surgery and surveillance, instead their management centres on control of seizures. Some tumors are highly associated with refractory epilepsy, and are amenable to epilepsy surgery due to their anatomic and imaging features, epilepsy surgery is therefore an important treatment option for this group of patients. Neoplasia Oncological abnormality Tumor Tumour human_phenotype Cancer Oncology HP:0002664 The World Health Organization (WHO) classifies neoplasms into four main groups: (i) benign neoplasm, (ii) in situ neoplasm, (iii) malignant neoplasm, and (iv) neoplasm of uncertain or unknown behavior. A malignant neoplasm is also known as cancer. Neoplasm true Epileptogenic tumors are, in the majority, biologically benign lesions that do not usually change over time. As a result, they do not require oncological surgery and surveillance, instead their management centres on control of seizures. Some tumors are highly associated with refractory epilepsy, and are amenable to epilepsy surgery due to their anatomic and imaging features, epilepsy surgery is therefore an important treatment option for this group of patients. https://www.epilepsydiagnosis.org/aetiology/tumors-overview.html An abnormality of the immune system. HP:0003257 HP:0003346 HP:0010986 UMLS:C4021753 Abnormality of the immune system Immunological abnormality human_phenotype HP:0002715 The immune system is composed of organs and interdependent cell types that collectively protect the body from infections and from the growth of tumor cells. The organs of the immune system comprise the bone marrow, the spleen, the thymus,the lymph nodes, and the cell types comprise B cells, T cells, natural killer cells, granulocytes,dendritic cells, and macrophages. Abnormality of the immune system Increased resistance to the passage of air in the upper airway. UMLS:C0740852 mposed upper airways obstruction (suffocation) is a rare but important cause of life-threatening syncope in infants. The events always occur in the presence of a particular individual with others never seeing the beginning of an event. The syncope takes longer to evolve than in reflex anoxic seizures or breath holding. This is one form of fabricated or induced illness. IUAO Upper airway obstruction imposed upper airways obstruction human_phenotype HP:0002781 Upper airway obstruction true mposed upper airways obstruction (suffocation) is a rare but important cause of life-threatening syncope in infants. The events always occur in the presence of a particular individual with others never seeing the beginning of an event. The syncope takes longer to evolve than in reflex anoxic seizures or breath holding. This is one form of fabricated or induced illness. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#imposed-upper Fyler:4200 UMLS:C4025677 Abnormal respiration Functional respiratory abnormality human_phenotype Respiratory problem HP:0002795 This category describes not-primarily structural lesions. Functional respiratory abnormality The presence of an ependymoma of the central nervous system. MSH:D004806 NCIT:C3017 SNOMEDCT_US:443643007 SNOMEDCT_US:57706008 UMLS:C0014474 human_phenotype HP:0002888 According to MPATH, ependymomas are neoplasms derived from the ependymal cells lining the ventricles and aqueduct of the brain and the central canal of the spinal cord and may be malignant or benign. Ependymoma http://www.case.edu/EpSO.owl#Ependymoma An abnormally decreased calcium concentration in the blood. https://www.ncbi.nlm.nih.gov/pubmed/20430655 MSH:D006996 SNOMEDCT_US:5291005 UMLS:C0020598 Hypocalcaemia Low blood calcium levels human_phenotype HP:0002901 Hypocalcemia https://www.epilepsy.com/learn/professionals/co-existing-disorders/metabolic-disorders/electrolyte-abnormalities/hypocalcemia true true An abnormally decreased sodium concentration in the blood. MSH:D007010 SNOMEDCT_US:89627008 UMLS:C0020625 Low blood sodium levels human_phenotype HP:0002902 Hyponatremia https://www.epilepsy.com/learn/professionals/co-existing-disorders/metabolic-disorders/electrolyte-abnormalities/hyponatremia true An abnormally decreased magnesium concentration in the blood. HP:0003284 SNOMEDCT_US:190855004 UMLS:C0151723 Low blood Mg levels Low blood magnesium levels human_phenotype HP:0002917 Hypomagnesemia https://www.epilepsy.com/learn/professionals/co-existing-disorders/metabolic-disorders/electrolyte-abnormalities true An abnormality of the cerebrospinal fluid (CSF). UMLS:C0151583 Abnormal CSF findings Abnormality of the CSF human_phenotype HP:0002921 The cerebrospinal fluid (CSF) is secreted by the choroid plexus, and flows uninterrupted throughout the central nervous system (the central cerebrospinal canal of the spinal cord and through the four interconnected cerebral ventricles in the brain). Abnormality of the cerebrospinal fluid Abnormality originating in one or more muscles, i.e., of the set of muscles of body. HP:0003197 HP:0003708 HP:0040290 UMLS:C4021745 Muscular abnormality human_phenotype HP:0003011 Abnormality of the musculature Abnormality of the homeostasis (concentration) of a monoatomic ion. HP:0003253 SNOMEDCT_US:237840007 UMLS:C1704431 UMLS:C4025654 Abnormality of ion homeostasis Electrolyte disorders human_phenotype HP:0003111 Abnormal blood ion concentration An abnormally increased sodium concentration in the blood. MSH:D006955 SNOMEDCT_US:286926003 SNOMEDCT_US:39355002 UMLS:C0020488 High blood sodium levels human_phenotype HP:0003228 Hypernatremia https://www.epilepsy.com/learn/professionals/co-existing-disorders/metabolic-disorders/electrolyte-abnormalities-0 true An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy. HP:0002147 HP:0002906 HP:0003078 HP:0003525 HP:0003531 HP:0008164 https://www.ncbi.nlm.nih.gov/pubmed/28288363 UMLS:C0151576 UMLS:C0241005 Elevated blood creatine phosphokinase Elevated circulating creatine phosphokinase Elevated creatine kinase Elevated serum CPK Elevated serum creatine kinase Elevated serum creatine phosphokinase High serum creatine kinase Increased CPK Increased creatine kinase Increased creatine phosphokinase Increased serum CK Increased serum creatine kinase Increased serum creatine phosphokinase human_phenotype HP:0003236 'has part' some ('increased amount' and ('inheres in' some (IMR_0002602 and ('part of' some blood))) and ('has modifier' some abnormal)) Elevated serum creatine kinase true Sudden and involuntary contractions of one or more muscles. HP:0009018 HP:0031988 MSH:D009120 SNOMEDCT_US:55300003 UMLS:C0026821 Muscle cramps human_phenotype Spasm HP:0003394 Muscle spasm true Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). UMLS:C4025596 human_phenotype HP:0003549 Abnormality of connective tissue A condition in which muscles cannot be moved quickly without accompanying pain or spasm. HP:0009014 https://www.ncbi.nlm.nih.gov/pubmed/28139515 SNOMEDCT_US:16046003 UMLS:C0221170 stiffness human_phenotype HP:0003552 Muscle stiffness https://www.epilepsysociety.org.uk/seizure-types#.XJsKjZgzbIU true true true Excessive production of saliva. MSH:D012798 SNOMEDCT_US:275295002 SNOMEDCT_US:53827007 SNOMEDCT_US:62718007 UMLS:C0013132 UMLS:C0037036 Excessive production of saliva Excessive salivation Hypersalivation Mouth watering Oversalivation Ptyalism Watery mouth human_phenotype HP:0003781 Excessive salivation UMLS:C0852413 Abnormal muscle tone human_phenotype HP:0003808 Abnormal muscle tone Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face. peter 2008-02-20T12:18:00Z HP:0007120 SNOMEDCT_US:102542000 UMLS:C0235086 Involuntary movements Involuntary muscle contractions human_phenotype HP:0004305 Involuntary movements An abnormal increase or decrease of weight or an abnormal distribution of mass in the body. peter 2008-02-27T03:21:00Z HP:0010718 UMLS:C0878621 UMLS:C4025357 Abnormality of body weight human_phenotype Abnormality of habitus HP:0004323 Abnormality of body weight Abnormally low body weight. peter 2008-02-27T03:22:00Z HP:0001823 HP:0001826 MSH:D013851 MSH:D015431 SNOMEDCT_US:161832001 SNOMEDCT_US:248342006 SNOMEDCT_US:262285001 SNOMEDCT_US:89362005 UMLS:C0041667 UMLS:C1262477 UMLS:C1844806 Decreased body weight Decreased weight Low body weight Low weight Weight less than 3rd percentile human_phenotype HP:0004325 Decreased body weight Any structural anomaly of the vitreous body. peter 2008-02-27T04:20:00Z UMLS:C4025356 Abnormal vitreous humour morphology human_phenotype HP:0004327 The vitreous humor is the clear gel that fills the space between the lens and the retina. Abnormal vitreous humor morphology peter 2008-02-27T04:25:00Z UMLS:C4025354 Abnormal morphology of the posterior segment of the globe Abnormality of the posterior segment of the eye Abnormality of the posterior segment of the eyeball Abnormality of the posterior segment of the globe human_phenotype HP:0004329 The posterior segment comprises the anterior hyaloid membrane and all of the optical structures behind it: the vitreous humor, retina, choroid, and optic nerve. Abnormal posterior eye segment morphology Any deviation from the normal concentration of calcium in the blood circulation. peter 2008-03-17T04:15:00Z HP:0040077 https://www.ncbi.nlm.nih.gov/pubmed/20430655 Abnormal blood calcium concentration Abnormal blood calcium levels Abnormal circulating Ca concentration Abnormal circulating Ca2+ concentration HP:0004363 Abnormal circulating calcium concentration true peter 2008-03-18T07:12:00Z SNOMEDCT_US:3006004 UMLS:C0234428 Disturbances of consciousness Lowered consciousness Reduced consciousness/confusion human_phenotype HP:0004372 Reduced consciousness/confusion Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength. peter 2008-03-18T07:35:00Z UMLS:C0375206 Paralysis or weakness of one side of body human_phenotype HP:0004374 Hemiplegia/hemiparesis Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein). peter 2008-03-18T09:30:00Z MSH:D013924 SNOMEDCT_US:64156001 UMLS:C0040046 human_phenotype HP:0004418 Thrombophlebitis https://www.longdom.org/open-access/a-case-of-thrombophlebitis-caused-by-carbamazepine-2161-1025.1000121.pdf true An abnormality of magnesium ion homeostasis. HP:0008274 UMLS:C4020826 UMLS:C4025274 Abnormal Mg concentration Abnormality of magnesium homeostasis human_phenotype Abnormal magnesium metabolism HP:0004921 Abnormal magnesium concentration Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow. MSH:D020246 SNOMEDCT_US:111293003 UMLS:C0042487 Blood clot in vein human_phenotype HP:0004936 Venous thrombosis A separation (dissection) of the layers of an artery. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3728598/ MSH:D000784 SNOMEDCT_US:233992003 SNOMEDCT_US:26845001 SNOMEDCT_US:710864009 SNOMEDCT_US:9406001 UMLS:C0002949 human_phenotype HP:0005294 Arterial dissection true UMLS:C1846620 Unilateral clonic seizures human_phenotype HP:0006813 Hemiclonic seizures Enlargement of all or parts of one cerebral hemisphere. MSH:D065705 SNOMEDCT_US:253170008 UMLS:C0431391 Hemimegalencephaly is a malformation of cortical development, where there is an abnormally large and malformed cerebral hemisphere, with abnormal cortical formation, white matter volume and ventricular morphology. The other hemisphere is usually normal, but may be smaller in size. Hemimegalencephaly can co-occur with other structural abnormalities including enlargement of the ipsilateral cerebellar hemisphere and brainstem, polymicrogyria and grey matter heterotopia. It can occur in tuberous sclerosis, linear nevus sebaceous syndrome (50% have hemimegalencephaly), hypomelanosis of Ito, neurofibromatosis, Proteus syndrome and in Klippel-Trenaunay-Weber syndrome. human_phenotype HP:0007206 The affected hemisphere may have focal or diffuse neuronal migration defects, with areas of polymicrogyria, pachygyria, and heterotopia. Hemimegalencephaly true Hemimegalencephaly is a malformation of cortical development, where there is an abnormally large and malformed cerebral hemisphere, with abnormal cortical formation, white matter volume and ventricular morphology. The other hemisphere is usually normal, but may be smaller in size. Hemimegalencephaly can co-occur with other structural abnormalities including enlargement of the ipsilateral cerebellar hemisphere and brainstem, polymicrogyria and grey matter heterotopia. It can occur in tuberous sclerosis, linear nevus sebaceous syndrome (50% have hemimegalencephaly), hypomelanosis of Ito, neurofibromatosis, Proteus syndrome and in Klippel-Trenaunay-Weber syndrome. https://www.epilepsydiagnosis.org/aetiology/hemimegalencephaly-overview.html Seizures of which initial semiology indicates, or is consistent with, initial activation of only part of one cerebral hemisphere. peter 2008-03-31T05:27:00Z HP:0002358 MSH:D012640 SNOMEDCT_US:29753000 UMLS:C0751495 Focal seizures are conceptualized as originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed. Focal seizures may originate in subcortical structures. For each seizure type, ictal onset is consistent from one seizure to another, with preferential propagation patterns that can involve the ipsilateral and/or contralateral hemisphere. Focal seizure Focal seizures Focal-onset seizures Partial seizures Seizure affecting one half of brain human_phenotype HP:0007359 Partial seizures can be classified as simple (consciousness is maintained) or complex (consciousness is impaired or lost). Focal-onset seizure true Focal seizures are conceptualized as originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed. Focal seizures may originate in subcortical structures. For each seizure type, ictal onset is consistent from one seizure to another, with preferential propagation patterns that can involve the ipsilateral and/or contralateral hemisphere. https://www.epilepsydiagnosis.org/seizure/focal-seizure-overview.html# peter 2008-04-04T12:35:00Z HP:0000827 UMLS:C4024685 Puberty and gonadal disorders human_phenotype HP:0008373 Puberty and gonadal disorders Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia. peter 2009-09-20T08:53:39Z SNOMEDCT_US:698836007 UMLS:C3697670 Spinal myoclonus results in myoclonic jerks of the body that may not be modified by sleep or by voluntary action (therefore it may be present awake and asleep and at rest or during movement). Spinal segmental myoclonus is usually symptomatic of an underlying structural spinal lesion such as syringomyelia. It is confined to one or few contiguous myotomes and may occur irregularly or quasirhythmically, with a variable frequency. Propriospinal myoclonus is a form of spinal myoclonus where the axial muscles are recruited extensively along long propriospinal pathways. Typically, there are axial flexion jerks involving the neck, trunk and hips with a frequency of 1-6 Hz. Propriospinal myoclonus typically occurs spontaneously, especially in the recumbent position, or may be provoked by tapping of the abdomen or by eliciting tendon reflexes. human_phenotype HP:0010531 Spinal myoclonus true Spinal myoclonus results in myoclonic jerks of the body that may not be modified by sleep or by voluntary action (therefore it may be present awake and asleep and at rest or during movement). Spinal segmental myoclonus is usually symptomatic of an underlying structural spinal lesion such as syringomyelia. It is confined to one or few contiguous myotomes and may occur irregularly or quasirhythmically, with a variable frequency. Propriospinal myoclonus is a form of spinal myoclonus where the axial muscles are recruited extensively along long propriospinal pathways. Typically, there are axial flexion jerks involving the neck, trunk and hips with a frequency of 1-6 Hz. Propriospinal myoclonus typically occurs spontaneously, especially in the recumbent position, or may be provoked by tapping of the abdomen or by eliciting tendon reflexes. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#spinal-myoclonus Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons. peter 2009-10-01T08:30:25Z UMLS:C4021255 Paralysis due to lesions of the principle motor tracts human_phenotype HP:0010549 Weakness due to upper motor neuron dysfunction The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area. peter 2009-12-06T08:05:54Z MSH:D065707 SNOMEDCT_US:253159001 SNOMEDCT_US:38353004 UMLS:C0266484 Schizencephaly is an uncommon malformation of cortical development that results in a cleft, lined by polymicrogyria, that extends from the ependyma of the ventricles to the pia mater. The majority of clefts are posterior frontal or parietal, but temporal or occipital location can occur. human_phenotype HP:0010636 Schizencephaly true Schizencephaly is an uncommon malformation of cortical development that results in a cleft, lined by polymicrogyria, that extends from the ependyma of the ventricles to the pia mater. The majority of clefts are posterior frontal or parietal, but temporal or occipital location can occur. https://www.epilepsydiagnosis.org/aetiology/schizencephaly-overview.html Enuresis occurring during sleeping hours. sandra1 2010-03-01T09:11:31Z https://www.ncbi.nlm.nih.gov/pubmed/30666028 MSH:D053206 SNOMEDCT_US:8009008 UMLS:C0270327 Nocturnal enuresis human_phenotype Bedwetting HP:0010677 Enuresis nocturna http://www.case.edu/EpSO.owl#Bedwetting true Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. peter 2010-04-30T11:40:43Z MSH:D004890 MSH:D005483 SNOMEDCT_US:20255002 SNOMEDCT_US:238810007 SNOMEDCT_US:247441003 SNOMEDCT_US:271811009 SNOMEDCT_US:444827008 SNOMEDCT_US:70819003 SNOMEDCT_US:86735004 UMLS:C0016382 UMLS:C0041834 Redness of skin or mucous membrane human_phenotype HP:0010783 Erythema Generalized seizures with sustained increase in muscle contraction lasting a few seconds to minutes. peter 2010-07-10T03:03:51Z HP:0002184 UMLS:C1836508 A generalized tonic seizure involves bilaterally increased tone of the limbs typically lasting seconds to a minute. They often occur out of sleep and in runs of varying intensity of tonic stiffening. The individual is unaware during these events. At the beginning of tonic seizures with more intense stiffening, individuals may make an expiratory sound. More severe and prolonged tonic seizures may have a vibratory component which may be confused with clonic jerking. Tonic seizures often occur in individuals with intellectual impairment. Generalised tonic seizures human_phenotype Hypertonic seizures HP:0010818 Characterized by a sudden increase in muscle tone whereby the body, arms, or legs make sudden stiffening movements and consciousness is usually preserved. Tonic seizures can occur during sleep. Tonic seizures usually affect both sides of the body, and cause a fall if the affected person was standing when the seizure started. Generalized tonic seizures true A generalized tonic seizure involves bilaterally increased tone of the limbs typically lasting seconds to a minute. They often occur out of sleep and in runs of varying intensity of tonic stiffening. The individual is unaware during these events. At the beginning of tonic seizures with more intense stiffening, individuals may make an expiratory sound. More severe and prolonged tonic seizures may have a vibratory component which may be confused with clonic jerking. Tonic seizures often occur in individuals with intellectual impairment. https://www.epilepsydiagnosis.org/seizure/tonic-overview.html Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature. peter 2010-07-10T03:13:06Z HP:0002124 SNOMEDCT_US:189198006 SNOMEDCT_US:42365007 UMLS:C0270846 UMLS:C1836509 Astatic seizure Astatic seizures Atonic seizures Drop attacks Drop seizures Hypotonic seizure human_phenotype Hypotonic seizures Sudden loss of muscle tone HP:0010819 This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding atonic seizures when the onset is not known. Atonic seizure http://www.case.edu/EpSO.owl#AtonicSeizure https://www.epilepsydiagnosis.org/seizure/atonic-overview.html true A type of seizure characterized by crying or an outburst of crying as a major feature. peter 2010-07-10T03:23:32Z UMLS:C4023693 Characterized by the presence of stereotyped crying, this may be accompanied by lacrimation, sad facial expression and sobbing. The subjective emotion of sadness may or may not be present. These seizures often accompany focal emotional seizures with laughing in the setting of a hypothalamic hamartoma. They can also occur in seizures arising in frontal or temporal lobes. Crying is a rare feature of an epileptic seizure, and is more commonly a feature of a non-epileptic seizure. human_phenotype HP:0010820 The word dacrystic is derived from the Greek word dakryon (tear). Dacrystic seizures https://www.epilepsy.com/learn/types-seizures/gelastic-and-dacrystic-seizures true Characterized by the presence of stereotyped crying, this may be accompanied by lacrimation, sad facial expression and sobbing. The subjective emotion of sadness may or may not be present. These seizures often accompany focal emotional seizures with laughing in the setting of a hypothalamic hamartoma. They can also occur in seizures arising in frontal or temporal lobes. Crying is a rare feature of an epileptic seizure, and is more commonly a feature of a non-epileptic seizure. https://www.epilepsydiagnosis.org/seizure/emotional-overview.html A type of seizure characterized by laughing or an outburst of laughing as a major feature. peter 2010-07-10T03:27:12Z MSH:D004828 SNOMEDCT_US:89525009 UMLS:C0270820 Bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as mirthless. This seizure type is characteristic of seizures arising in the hypothalamus (see hypothalamic hamartoma), but can occur in seizures arising in the frontal or temporal lobes. focal emotional seizure with laughing (gelastic) human_phenotype HP:0010821 Laughter is usually lasts briefly, about 30s. Laughing can also be a component of several other kinds of seizures such as partial seizures with motor symptoms, myoclonic seizures, axial tonic seizures, flexor spasms, generalized convulsive seizures, and petit mal absences. Gelastic seizures http://www.case.edu/EpSO.owl#GelasticSeizure https://www.epilepsy.com/learn/types-seizures/gelastic-and-dacrystic-seizures true true Bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as mirthless. This seizure type is characteristic of seizures arising in the hypothalamus (see hypothalamic hamartoma), but can occur in seizures arising in the frontal or temporal lobes. https://www.epilepsydiagnosis.org/seizure/emotional-overview.html Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG). peter 2010-07-10T08:15:05Z UMLS:C4021217 EEG with generalised slow activity EEG: generalised slow activity EEG: generalized slow activity electroencephalogram with generalized slow activity human_phenotype Slow Activity HP:0010845 Generalized slow activity in the EEG typically signifies serious dysfunction of the entire brain. EEG with generalized slow activity http://www.case.edu/EpSO.owl#SlowActivity true true The presence of complexes of slow spikes and slow waves (<2.5 Hz) in electroencephalography (EEG). peter 2010-07-10T08:18:25Z UMLS:C4023686 spike and slow wave complex human_phenotype HP:0010847 Spikes (<70 ms) and sharp waves (70-200 ms) are sharp transient waves that have a strong association with epilepsy. No difference is noted in terms of clinical significance of spikes and sharp waves. Significant spikes usually are followed by a slow wave. EEG with spike-wave complexes (<2.5 Hz) true Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). peter 2010-07-10T08:23:28Z UMLS:C4023683 electroencephalogram with spike wave complex human_phenotype Spike Wave HP:0010850 EEG with spike-wave complexes true EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns. peter 2010-07-11T08:10:17Z HP:0001330 UMLS:C3552821 Photoparoxysmal response on EEG electroencephalogram with photoparoxysmal response human_phenotype Photoparoxysmal Response HP:0010852 In some patients, seizures can be provoked by specific external factors (reflex epilepsy), including flickering lights and patterns. These patients commonly show epileptiform discharges in the EEG when stimulated with flashing lights, black and white striped patterns and television. These evoked EEG abnormalities are called photoparoxysmal responses. EEG with photoparoxysmal response http://www.case.edu/EpSO.owl#PhotoparoxysmalResponse Periodic lateralized epileptiform discharges (PLEDs)are periodic, lateralized, and epileptiform. PLEDs show a relatively constant interval between discharges (0.5 to 3 seconds). peter 2010-07-11T08:25:02Z UMLS:C4021215 EEG: periodic lateralized epileptiform discharges electroencephalogram with periodic lateralized epileptiform discharge human_phenotype Periodic Lateralized Epileptiform Discharge HP:0010853 The epileptiform morphology of the discharges is not invariable, as PLEDS are often closer to slow waves than to sharp waves in morphology. PLEDs are often are caused by acute destructive focal lesions. PLEDs are often a transitory phenomenon, disappearing in a matter of weeks, even if the causal lesion persists, and often transforming into a less specific but more persistent focal slow appearance. EEG with periodic lateralized epileptiform discharges http://www.case.edu/EpSO.owl#PeriodicLateralizedEpileptiformDischarge An abnormal level of a circulating protein in the blood. peter 2010-09-07T01:51:12Z UMLS:C4020763 UMLS:C4020764 UMLS:C4023679 Abnormality of circulating protein level human_phenotype Blood protein disease Serum protein abnormality HP:0010876 Abnormal circulating protein level An abnormality of divalent inorganic cation homeostasis. peter 2011-01-06T07:47:18Z UMLS:C4023648 Abnormality of divalent inorganic cation homeostasis human_phenotype HP:0010927 Abnormal blood inorganic cation concentration An abnormality of cation homeostasis. peter 2011-01-06T10:36:04Z UMLS:C4023646 Abnormality of cation homeostasis human_phenotype HP:0010929 Abnormal blood cation concentration An abnormality of monovalent inorganic cation homeostasis. peter 2011-01-06T10:38:38Z UMLS:C4023645 Abnormality of monovalent inorganic cation homeostasis human_phenotype HP:0010930 Abnormal blood monovalent inorganic cation concentration An abnormal concentration of sodium. peter 2011-01-06T10:40:20Z UMLS:C4023644 Abnormal blood Na+ levels Abnormal circulating Na concentration Abnormality of sodium homeostasis human_phenotype HP:0010931 Abnormal blood sodium concentration An abnormality of the lower urinary tract. peter 2011-01-16T11:39:17Z UMLS:C4023640 human_phenotype HP:0010936 The lower urinary tract is a subdivision of urinary system which consists of the urinary bladder and the urethra. Abnormality of the lower urinary tract A functional abnormality of the immune system. peter 2011-02-07T04:28:55Z UMLS:C4023616 human_phenotype HP:0010978 Abnormality of immune system physiology An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries. peter 2011-02-16T08:46:49Z HP:0002620 HP:0005114 Fyler:2600 SNOMEDCT_US:234119001 UMLS:C0151489 UMLS:C4021205 Abnormal systemic artery morphology Abnormality of the systemic arterial tree Systemic artery abnormality human_phenotype Arterial abnormalities HP:0011004 Abnormal systemic arterial morphology peter 2011-02-28T08:46:34Z UMLS:C4023591 human_phenotype HP:0011021 Abnormality of circulating enzyme level An abnormality of the gastrointestinal tract. peter 2011-03-01T07:52:06Z MSH:D004066 MSH:D005767 SNOMEDCT_US:119292006 SNOMEDCT_US:25374005 SNOMEDCT_US:53619000 UMLS:C0012242 UMLS:C0017178 UMLS:C4023588 Abnormality of the GI tract Abnormality of the gastrointestinal tract human_phenotype Digestive system disease Gastrointestinal disease HP:0011024 Abnormality of the gastrointestinal tract Abnormal functionality of the cardiovascular system. peter 2011-03-03T10:23:19Z UMLS:C4023587 Abnormality of cardiovascular system physiology human_phenotype HP:0011025 Abnormal cardiovascular system physiology An abnormality of blood circulation. peter 2011-03-03T10:25:21Z UMLS:C4020760 UMLS:C4023585 human_phenotype Blood circulation disorder HP:0011028 Abnormality of blood circulation The presence of hemorrhage within the body. peter 2011-03-03T10:26:26Z UMLS:C1390214 Internal bleeding Internal haemorrhage human_phenotype HP:0011029 Internal hemorrhage 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. peter 2011-05-04T01:56:31Z MSH:D013036 SNOMEDCT_US:28055006 UMLS:C0037769 UMLS:C1527366 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. Salaam convulsions Salaam seizures human_phenotype West syndrome HP:0011097 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). Epileptic spasms https://www.epilepsydiagnosis.org/seizure/motor-overview.html true 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. https://www.epilepsydiagnosis.org/seizure/epileptic-spasms-overview.html Any morphological abnormality of the skin. peter 2011-06-12T10:03:23Z Fyler:4133 UMLS:C4023528 Abnormal skin morphology Abnormal skin structure human_phenotype HP:0011121 Abnormality of skin morphology 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. peter 2011-10-18T02:03:21Z UMLS:C4023513 Absence seizures with eyelid myoclonia human_phenotype HP:0011149 Absence seizure with eyelid myoclonia https://www.epilepsydiagnosis.org/seizure/awsf-eyelid-myoclonia-overview.html true 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. peter 2011-10-18T02:04:35Z UMLS:C4023512 Myoclonic absences myoclonic absence seizure human_phenotype HP:0011150 Myoclonic absence https://www.epilepsydiagnosis.org/seizure/awsf-myoclonic-absence-overview.html true A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation. peter 2011-10-18T02:33:17Z MSH:D020938 SNOMEDCT_US:128612007 SNOMEDCT_US:82401000 UMLS:C0016399 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 motor seizures Localised motor seizure Localized motor seizure Localized motor seizures Partial motor seizure Partial motor seizures Segmental motor seizure human_phenotype HP:0011153 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 motor seizure https://www.medicinenet.com/script/main/art.asp?articlekey=32972 true true 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. https://www.epilepsydiagnosis.org/seizure/motor-overview.html Focal seizures with an objectively documented and distinct alteration of autonomic nervous system function involving cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor and thermoregularity functions. peter 2011-10-18T02:23:31Z UMLS:C4023509 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 autonomic seizures autonomic human_phenotype HP:0011154 Focal autonomic seizure true 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. https://www.epilepsydiagnosis.org/seizure/autonomic-overview.html A focal sensory seizure involves a sensation being experienced at seizure onset, without objective clinical signs of a seizure evident to the observer. peter 2011-10-18T02:26:40Z MSH:D004827 SNOMEDCT_US:18618006 UMLS:C0236018 Epileptic aura sensory human_phenotype HP:0011157 Focal sensory seizure https://www.epilepsydiagnosis.org/seizure/sensory-overview.html true A type of focal sensory seizure that is characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones. peter 2011-10-18T02:26:59Z https://www.ncbi.nlm.nih.gov/pubmed/15642493 https://www.ncbi.nlm.nih.gov/pubmed/27857611 UMLS:C1838063 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. Auditory Aura Auditory aura human_phenotype Complex Auditory Aura Simple Auditory Aura HP:0011158 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. Focal sensory auditory seizure http://www.case.edu/EpSO.owl#AuditoryAura http://www.case.edu/EpSO.owl#ComplexAuditoryAura http://www.case.edu/EpSO.owl#ElementaryAuditoryAura true true 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. https://www.epilepsydiagnosis.org/seizure/sensory-overview.html 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. peter 2011-10-18T02:27:58Z https://www.ncbi.nlm.nih.gov/pubmed/10919145 UMLS:C4023506 Abdominal aura Visceral aura human_phenotype HP:0011159 Epigastric auras true true Auras with taste sensations including acidic, bitter, salty , sweet or metallic tastes. peter 2011-10-18T02:28:36Z https://www.ncbi.nlm.nih.gov/pubmed/15642493 https://www.ncbi.nlm.nih.gov/pubmed/27857611 MSH:D006212 SNOMEDCT_US:29139005 UMLS:C0233766 Characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes. These seizures involve the parietal operculum and the insula. Gustatory aura Gustatory auras Taste hallucinations human_phenotype HP:0011160 Focal sensory gustatory seizure true true Characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes. These seizures involve the parietal operculum and the insula. https://www.epilepsydiagnosis.org/seizure/sensory-overview.html Auras with sensation of odor, usually disagreeable. peter 2011-10-18T02:28:55Z UMLS:C4023504 Characterized by olfactory phenomena - usually an odor, which is often unpleasant. These seizures involve the mesial temporal or orbitofrontal regions. human_phenotype HP:0011161 Olfactory auras true Characterized by olfactory phenomena - usually an odor, which is often unpleasant. These seizures involve the mesial temporal or orbitofrontal regions. https://www.epilepsydiagnosis.org/seizure/sensory-overview.html Auras with affective, mnemonic or composite perceptual phenomena including illusory or composite hallucinatory events. peter 2011-10-18T02:29:23Z UMLS:C4023503 human_phenotype HP:0011162 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. Psychic auras http://www.case.edu/EpSO.owl#PsychicAura Auras with sensation of tingling, numbness, electric shock sensations, pain, sense of movement, or desire to move. peter 2011-10-18T02:29:52Z https://www.ncbi.nlm.nih.gov/pubmed/15911361 https://www.ncbi.nlm.nih.gov/pubmed/26249726 UMLS:C4023502 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. Somatosensory auras human_phenotype HP:0011163 Somatosensory auras true true true 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. https://www.epilepsydiagnosis.org/seizure/sensory-overview.html A sensation consistent with involvement of the autonomic nervous system, including cardiovascular, gastrointestinal, sudomotor, vasomotor and thermoregulatory functions. peter 2011-10-18T02:30:10Z https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3432285/ UMLS:C4021200 Autonomic Aura Autonomic auras human_phenotype HP:0011164 Vegetative auras http://www.case.edu/EpSO.owl#AutonomicAura true Auras with sensation of flashing or flickering lights, spots, simple patterns, scotomata, or amaurosis. peter 2011-10-18T02:31:15Z HP:0007175 UMLS:C1850765 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. human_phenotype HP:0011165 Note that there is a distinction between Visual aura and Simple partial occipital seizures. See HPO term HP:0025121 for comments. Visual auras http://www.case.edu/EpSO.owl#VisualAura https://academic.oup.com/brain/article/123/2/244/346024 true true true 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. https://www.epilepsydiagnosis.org/seizure/sensory-overview.html peter 2011-10-18T02:34:14Z UMLS:C4023501 A single or short cluster of brief muscle contractions (jerks), each jerk is typically milliseconds in duration. Local myoclonic seizures Partial myoclonic seizures human_phenotype HP:0011166 Focal myoclonic seizures true A single or short cluster of brief muscle contractions (jerks), each jerk is typically milliseconds in duration. https://www.epilepsydiagnosis.org/seizure/motor-overview.html Seizures with sustained increase in muscle contraction in parts of the body lasting a few seconds to minutes. peter 2011-10-18T02:35:03Z MSH:D020938 UMLS:C0752324 Increased muscle tone, usually lasting for seconds to minute Local tonic seizures Partial tonic seizures human_phenotype HP:0011167 Focal tonic seizures https://www.epilepsy.com/learn/types-seizures/tonic-seizures true true Increased muscle tone, usually lasting for seconds to minute https://www.epilepsydiagnosis.org/seizure/motor-overview.html 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. hecht 2011-11-19T10:13:17Z UMLS:C4023497 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. focal hyperkinetic seizure human_phenotype HP:0011174 Hyperkinetic seizures https://link.springer.com/referenceworkentry/10.1007%2F978-1-84882-128-6_61 true true 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. https://www.epilepsydiagnosis.org/seizure/motor-overview.html Tonic seizures with a sustained, forced conjugate ocular, cephalic and/or truncal rotation or lateral deviation from the midline. hecht 2011-11-19T10:14:54Z MSH:D020938 SNOMEDCT_US:246530009 UMLS:C0422846 human_phenotype HP:0011175 Versive seizures true 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. hecht 2011-11-19T10:32:25Z UMLS:C4023491 Epileptiform EEG discharges human_phenotype HP:0011182 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. Interictal epileptiform activity EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). hecht 2011-11-19T10:39:02Z HP:0010840 UMLS:C4021199 Focal EEG Abnormality human_phenotype HP:0011185 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). EEG with focal epileptiform discharges Focal epileptiform discharges with spreading to contralateral hemisphere but without secondary generalization. hecht 2011-11-19T10:40:22Z UMLS:C4023488 human_phenotype HP:0011186 Focal epileptiform discharges with limited propagation to contralateral hemisphere EEG discharges recorded on the entire scalp typically seen in persons with epilepsy. hecht 2011-11-19T11:15:46Z HP:0010842 UMLS:C4023476 EEG with generalised epileptiform discharges human_phenotype EpileptiFormPattern Epileptiform Discharge HP:0011198 Spikes (<70 ms) and sharp waves (70-200 ms) are sharp transient waves that have a strong association with epilepsy. No difference is noted in terms of clinical significance of spikes and sharp waves. Significant spikes usually are followed by a slow wave. EEG with generalized epileptiform discharges http://www.case.edu/EpSO.owl#EpileptiformPattern true true EEG with abnormally slow frequencies. hecht 2011-11-19T11:26:47Z UMLS:C4023471 human_phenotype HP:0011203 EEG with abnormally slow frequencies EEG showing diffuse slowing without interruption. hecht 2011-11-19T11:28:47Z UMLS:C4023470 electroencephalogram with continuous slow activity human_phenotype Continous Slow Activity HP:0011204 EEG with continuous slow activity true Non-continuous diffuse slowing of electroencephalographic patterns. hecht 2011-11-19T11:30:20Z UMLS:C4023469 human_phenotype Intermittent Slow Intermittent Slow Activity HP:0011205 EEG with intermittent slow activity http://www.case.edu/EpSO.owl#IntermittentSlowActivity true peter 2011-12-29T08:52:53Z MSH:D017445 SNOMEDCT_US:11263005 UMLS:C0162819 UMLS:C1842892 Skin vascular malformation human_phenotype Vascular abnormalities restricted to skin HP:0011276 Vascular skin abnormality An abnormality of the skin that is not localized to any one particular region. peter 2012-03-01T01:55:07Z UMLS:C4021157 Generalised abnormality of skin Generalized abnormality of skin human_phenotype HP:0011354 Generalized abnormality of skin An anomaly of the control or production of movement in the central nervous system. peter 2012-03-18T02:29:04Z UMLS:C4023354 human_phenotype HP:0011442 Abnormality of central motor function Cognitive, psychiatric or memory anomaly. peter 2012-03-18T04:23:59Z UMLS:C4023352 human_phenotype HP:0011446 Abnormality of higher mental function A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection. peter 2012-03-18T05:57:29Z MSH:D002494 SNOMEDCT_US:128117002 UMLS:C0007684 Central nervous system infection human_phenotype HP:0011450 Unusual CNS infection peter 2012-03-25T05:35:45Z UMLS:C0740651 human_phenotype HP:0011458 Abdominal symptom An abnormality in the range and ease of motion of joints across their normal range. peter 2012-04-18T07:09:28Z UMLS:C4023216 human_phenotype HP:0011729 Abnormality of joint mobility peter 2012-04-23T07:27:57Z UMLS:C4023183 Abnormality of facial soft tissue Anomaly of facial soft tissue Deformity of facial soft tissue Malformation of facial soft tissue human_phenotype HP:0011799 Abnormality of facial soft tissue A functional abnormality of a skeletal muscle. peter 2012-04-25T02:00:15Z UMLS:C4023182 Abnormality of muscle physiology Issue with muscle function human_phenotype HP:0011804 Abnormal muscle physiology A structural abnormality of a skeletal muscle. peter 2012-04-25T02:00:34Z HP:0003735 UMLS:C4023181 Abnormal muscle morphology Abnormality of muscle morphology Abnormally shaped muscle Issue with muscle structure human_phenotype HP:0011805 Abnormal skeletal muscle morphology An abnormality of the form, structure, or size of the skeletal system. peter 2012-05-07T08:08:37Z UMLS:C4023165 Abnormally shaped skeletal human_phenotype HP:0011842 Abnormality of skeletal morphology An abnormality of the function of the skeletal system. peter 2012-05-07T08:09:43Z UMLS:C4023164 human_phenotype HP:0011843 Abnormality of skeletal physiology EEG with generalized sharp transient waves of a duration less than 80 msec. hecht 2012-07-20T11:39:52Z UMLS:C2206531 EEG with generalised spikes electroencephalogram with generalized spike human_phenotype Spike Wave HP:0012000 EEG with generalized spikes http://www.case.edu/EpSO.owl#Spike true true EEG with repetitive generalized sharp transient waves of a duration less than 80 msec. hecht 2012-07-20T11:41:07Z UMLS:C4023088 EEG with generalised polyspikes electroencephalogram with generalized polyspike human_phenotype PolySpike HP:0012001 EEG with generalized polyspikes http://www.case.edu/EpSO.owl#PolySpike 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. hecht 2012-07-20T11:50:13Z https://www.ncbi.nlm.nih.gov/pubmed/12134331 UMLS:C4023087 human_phenotype HP:0012002 See the Glossary of Descriptive Terminology for Ictal Semiology at http://www.ilae.org. Experiential auras true Auras which reflect ictal dysmnesia such as: feelings as familiarity (deja-vu) and unfamiliarity (jamais-vu). hecht 2012-07-20T11:53:39Z https://www.ncbi.nlm.nih.gov/pubmed/12609279 UMLS:C4023085 mnemonic human_phenotype HP:0012004 See the Glossary of Descriptive Terminology for Ictal Semiology at http://www.ilae.org. Mnemonic auras true true A subjective feeling that an experience which is occurring for the first time has been experienced before. hecht 2012-07-20T11:54:16Z https://www.ncbi.nlm.nih.gov/books/NBK2605/ MSH:D003690 SNOMEDCT_US:313005 UMLS:C0011194 Deja vu human_phenotype HP:0012005 Deja vu true true A subjective feeling that an experience which has occurred before is being experienced for the first time. hecht 2012-07-20T11:55:38Z https://www.ncbi.nlm.nih.gov/books/NBK2605/ SNOMEDCT_US:28249008 UMLS:C0233803 human_phenotype HP:0012006 Jamais vu true true A structural anomaly of the globe of the eye, or bulbus oculi. peter 2013-10-13T03:44:43Z HP:0000489 HP:0012374 Fyler:4863 UMLS:C4022925 Abnormal eye morphology Abnormality of the globe Abnormally shaped eye human_phenotype HP:0012372 previously: Abnormal globe morphology Abnormal eye morphology A functional anomaly of the eye. peter 2013-10-13T03:45:37Z UMLS:C4022924 Abnormal eye physiology human_phenotype HP:0012373 Abnormal eye physiology Partial or complete loss of vision in one half of the visual field of one or both eyes. peter 2013-10-13T07:55:21Z https://www.ncbi.nlm.nih.gov/pubmed/30068811 MSH:D006423 SNOMEDCT_US:77674003 UMLS:C0018979 Hemianopsia human_phenotype HP:0012377 Hemianopia true true An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood. peter 2013-11-10T04:59:20Z SNOMEDCT_US:312391003 UMLS:C0476337 Abnormal blood gas level human_phenotype HP:0012415 Abnormal blood gas level An abnormally low level of blood oxygen. peter 2013-11-10T05:07:07Z https://www.ncbi.nlm.nih.gov/pubmed/22791548 MSH:D000860 SNOMEDCT_US:389087006 UMLS:C0700292 Low blood oxygen level human_phenotype Hypoxia HP:0012418 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. Hypoxemia true A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. peter 2013-11-23T02:38:00Z https://www.ncbi.nlm.nih.gov/pubmed/30661063 UMLS:C4021085 Abnormal shape of brain Abnormality of the brain human_phenotype HP:0012443 Abnormality of brain morphology A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank. peter 2013-12-08T08:21:46Z https://www.ncbi.nlm.nih.gov/pubmed/28488762 MSH:D014786 SNOMEDCT_US:42134006 UMLS:C0271185 human_phenotype HP:0012508 Metamorphopsia http://www.case.edu/EpSO.owl#Metamorphopsia true true A functional anomaly of the nervous system. peter 2014-01-19T08:02:46Z UMLS:C4022811 human_phenotype HP:0012638 Abnormality of nervous system physiology A structural anomaly of the nervous system. peter 2014-01-19T08:03:08Z Fyler:4135 Fyler:4300 UMLS:C4022810 Abnormal nervous system morphology Abnormal shape of nervous system human_phenotype HP:0012639 Abnormality of nervous system morphology peter 2014-02-15T01:33:13Z https://www.ncbi.nlm.nih.gov/pubmed/18777476 https://www.ncbi.nlm.nih.gov/pubmed/23365482 MSH:D013575 MSH:D019462 SNOMEDCT_US:234167006 SNOMEDCT_US:398652001 SNOMEDCT_US:398665005 UMLS:C0042420 UMLS:C0340854 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. Neurocardiogenic syncope Reflex syncope Situational syncope human_phenotype HP:0012668 Vasovagal syncope true true 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. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#vasovagal Abnormal functionality of the gastrointestinal tract. peter 2014-03-23T01:10:47Z UMLS:C4022755 Functional abnormality of the GI tract GI dysfunction human_phenotype HP:0012719 Functional abnormality of the gastrointestinal tract 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). peter 2014-06-06T08:09:22Z MSH:D017036 SNOMEDCT_US:241006 UMLS:C0085543 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. Epilepsia partialis continua of Kojevnikov Kojevnikov's epilepsia Kozhevnikov's epilepsia human_phenotype HP:0012847 The focal motor features may exhibit a Jacksonian march and a post-ictal (Todd's) paresis may be seen in the affected body part. Epilepsia partialis continua true 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. https://www.epilepsydiagnosis.org/seizure/motor-overview.html Seizures precipitated by exogenous stimuli. robinp 2020-02-24T13:36:35Z 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. Reflex seizure 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. robinp 2020-02-24T14:20:36Z This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized. Motor seizure 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. robinp 2020-02-24T14:54:22Z https://www.ncbi.nlm.nih.gov/pubmed/20627778 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. Localised atonic seizure Localised hypotonic seizure Localized atonic seizure Localized hypotonic seizure Partial atonic seizure Partial hypotonic seizure Segmental atonic seizure Segmental hypotonic seizure Focal atonic seizure https://www.epilepsy.com/learn/types-seizures/atonic-seizures true true true 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. https://www.epilepsydiagnosis.org/seizure/motor-overview.html 2016-08-12T11:24:56Z HPO:probinson Abnormal vascular morphology 2016-08-27T13:44:32Z HPO:probinson 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 the digestive system A functional anomaly of the digestive system. 2016-08-27T13:58:05Z HPO:probinson Abnormality of digestive system physiology Marked, involuntary jerking of the eyelids. 2016-10-28T05:55:32Z HPO:probinson https://www.ncbi.nlm.nih.gov/pubmed/6820630 Blepharoclonus Eyelid myoclonia Some literature refers to eyelid myoclonia as a disease entity (Jeavons syndrome) that is characterized by episodes of eyelid myoclonus with absences. Eyelid myoclonus true true 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. 2016-11-29T11:02:54Z HPO:probinson 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. Constitutional symptom Involuntary contraction or twitching of the muscles. 2016-11-29T11:13:35Z HPO:probinson https://www.ncbi.nlm.nih.gov/books/NBK1169/#adnfle.Clinical_Characteristics Shivering Shuddering 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. Shivering https://pdfs.semanticscholar.org/286d/427de14ed86a44160267f6a2c444afccf2a1.pdf true true 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. 2016-12-14T12:01:00Z HPO:probinson https://www.ncbi.nlm.nih.gov/books/NBK2609/ Sleep walking 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. Somnambulism http://www.case.edu/EpSO.owl#SleepWalking true 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. 2016-12-18T13:24:58Z HPO:probinson https://www.ncbi.nlm.nih.gov/pubmed/22580903 Snore Snores Snoring symptoms Snoring http://www.case.edu/EpSO.owl#Snoring true 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. 2017-02-17T12:01:58Z HPO:probinson https://www.ncbi.nlm.nih.gov/books/NBK2599/ Fragmentary myoclonus 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. Erratic myoclonus true 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. 2017-03-15T13:25:46Z HPO:probinson interictal electroencephalographic abnormality Interictal EEG abnormality http://www.case.edu/EpSO.owl#InterIctalPattern Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid. 2017-05-05T10:24:32Z HPO:probinson Abnormal CSF metabolite level 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. 2018-10-07T16:18:24Z HPO:probinson 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. emotional Focal emotional seizure true 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. https://www.epilepsydiagnosis.org/seizure/emotional-overview.html 2019-04-08T22:41:54Z HPO:probinson Abscess A collection of pus, immune cells, and other material in the brain. MSH:D001922 SNOMEDCT_US:441806004 UMLS:C0006105 Brain abscess cerebral abscess Brain abscess usually results from a bacterial or fungal infection. Brain abscess http://www.case.edu/EpSO.owl#CerebralAbcess UMLS:C4022597 Abnormality of CNS electrophysiology Abnormality of central nervous system electrophysiology Tiny, repetitive muscle contractions in the eyelids, causing the appearance of twitching. UMLS:C4280682 Eyelid fluttering Fasciculation of the eyelid Muscle twitches in eye lid Muscle twitches in eyelid Twitching around eyes Eyelid fasciculation true An anomaly of the muscular contractions that propel food though the gastrointestinal tract. Abnormal GI motility Abnormal gastrointestinal motility An anomaly of the wave-like muscle contractions of the digestive tract. Abnormal peristalsis A chronic deviation from normal pressure in the systemic arterial system. 2017-04-18T13:55:40Z robinp Abnormal systemic BP Abnormal systemic blood pressure A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning. 2017-09-17T16:30:45Z peter 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. Impairment in personality functioning 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. 2017-09-17T16:57:40Z peter Nonconvulsive status epilepticus Status epilepticus without prominent motor symptoms Any functional anomaly of the ear. 2017-12-18T00:20:24Z peter Abnormal ear physiology An abnormality in voluntary or involuntary eyelid movements or their control. 2018-01-28T12:51:02Z peter Abnormal eyelid movement Repetition of one's own words or phrases. 2018-04-28T22:45:49Z peter https://www.ncbi.nlm.nih.gov/pubmed/22776676 Palilalia true true A functional anomaly of the mouth (which is also known as the oral cavity). 2018-04-29T14:50:56Z peter The physiological functions of the mouth include salivary gland secretory function, mastication (chewing) and preparation of food for swallowing. Abnormal oral physiology 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. 2018-05-04T02:39:32Z peter upward rolling of the eyes Hypometric upward saccades http://www.efmny.org/epilepsy-101-know-the-facts/types-and-symptoms/ true true Any functional abnormality of the eyelid. 2018-05-06T15:39:56Z peter Abnormal eyelid physiology A deviation from normal concentration of glucose content in the cerebrospinal fluid. 2018-05-13T13:54:21Z peter Abnormal CSF glucose level Abnormally high glucose concentration in the cerebrospinal fluid. 2018-05-13T13:55:26Z peter https://www.ncbi.nlm.nih.gov/pubmed/26088882 Increased CSF glucose CSF glucose increased AE Hyperglycorrhachia true 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. 2018-09-03T00:17:49Z peter Abnormality of the ocular adnexa 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. 2018-09-03T00:18:45Z peter Abnormal ocular adnexa physiology 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. 2018-09-16T10:55:37Z peter https://www.ncbi.nlm.nih.gov/pubmed/22844307 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 is one of the most common entities associated with refractory epilepsy, especially in childhood. Focal cortical dysplasia http://www.case.edu/EpSO.owl#FocalCorticalDysplasia true true 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. https://www.epilepsydiagnosis.org/aetiology/focal-cortical-dysplasia-overview.html A type of focal cortical dysplasia that is characterized by abnormal cortical layering. 2018-09-16T11:00:11Z peter https://www.ncbi.nlm.nih.gov/pubmed/31085954 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 I http://www.case.edu/EpSO.owl#FocalCorticalDysplasiaTypeI true true 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. https://www.epilepsydiagnosis.org/aetiology/focal-cortical-dysplasia-overview.html A subtype of focal cortical dysplasia type I that is characterized by abnormal radial cortical lamination. 2018-09-16T11:03:23Z peter https://www.ncbi.nlm.nih.gov/pubmed/31085954 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. FCD Type IA (Abnormal Radial Cortical Lamination) Focal cortical dysplasia type Ia http://www.case.edu/EpSO.owl#FocalCorticalDysplasiaTypeIA true true 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. https://www.epilepsydiagnosis.org/aetiology/focal-cortical-dysplasia-overview.html A subtype of focal cortical dysplasia type I that is characterized by abnormal tangential cortical lamination. 2018-09-16T11:05:32Z peter https://www.ncbi.nlm.nih.gov/pubmed/31085954 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. FCD Type IB (Abnormal Tangential Cortical Lamination) Focal cortical dysplasia type Ib http://www.case.edu/EpSO.owl#FocalCorticalDysplasiaTypeIB true true 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. https://www.epilepsydiagnosis.org/aetiology/focal-cortical-dysplasia-overview.html A subtype of focal cortical dysplasia type I that is characterized by abnormal radial and tangential cortical lamination. 2018-09-16T11:06:34Z peter https://www.ncbi.nlm.nih.gov/pubmed/31085954 FCD Type IC (Abnormal Radial and Tangential Cortical Lamination) Focal cortical dysplasia type Ic http://www.case.edu/EpSO.owl#FocalCorticalDysplasiaTypeIC true A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities. 2018-09-16T11:09:13Z peter https://www.ncbi.nlm.nih.gov/pubmed/31085954 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 II http://www.case.edu/EpSO.owl#FocalCorticalDysplasiaTypeII true true FCD Type II is an isolated lesion characterized by cortical dyslamination and dysmorphic neurons without (Type IIa) or with balloon cells (Type IIb) https://www.epilepsydiagnosis.org/aetiology/focal-cortical-dysplasia-overview.html 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. 2018-09-16T11:11:20Z peter https://www.ncbi.nlm.nih.gov/pubmed/31085954 FCD Type II is an isolated lesion characterized by cortical dyslamination and dysmorphic neurons without (Type IIa) or with balloon cells (Type IIb) FCD Type IIA (Dysmorphic Neuron) 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. Focal cortical dysplasia type IIa http://www.case.edu/EpSO.owl#FocalCorticalDysplasiaTypeIIA true true FCD Type II is an isolated lesion characterized by cortical dyslamination and dysmorphic neurons without (Type IIa) or with balloon cells (Type IIb) https://www.epilepsydiagnosis.org/aetiology/focal-cortical-dysplasia-overview.html A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons (significantly enlarged with accumulation of neurofilament proteins) and balloon cells. 2018-09-16T11:12:48Z peter https://www.ncbi.nlm.nih.gov/pubmed/31085954 FCD Type II is an isolated lesion characterized by cortical dyslamination and dysmorphic neurons without (Type IIa) or with balloon cells (Type IIb) FCD Type IIB (Dysmorphic Neurons and Balloon Cell) 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. Focal cortical dysplasia type IIb http://www.case.edu/EpSO.owl#FocalCorticalDysplasiaTypeIIB true true FCD Type II is an isolated lesion characterized by cortical dyslamination and dysmorphic neurons without (Type IIa) or with balloon cells (Type IIb) https://www.epilepsydiagnosis.org/aetiology/focal-cortical-dysplasia-overview.html 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. 2018-09-16T11:15:25Z peter https://www.ncbi.nlm.nih.gov/pubmed/31085954 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 III http://www.case.edu/EpSO.owl#FocalCorticalDysplasiaTypeIII true true 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). https://www.epilepsydiagnosis.org/aetiology/focal-cortical-dysplasia-overview.html 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). 2018-09-16T11:16:43Z peter https://www.ncbi.nlm.nih.gov/pubmed/31085954 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). FCD Type IIIA (Cortical Lamination Abnormality in the Temporal Lobe Associated with Hippocampal Sclerosis) Focal cortical dysplasia type IIIa http://www.case.edu/EpSO.owl#FocalCorticalDysplasiaTypeIIIA true true 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). https://www.epilepsydiagnosis.org/aetiology/focal-cortical-dysplasia-overview.html 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. 2018-09-16T11:18:31Z peter https://www.ncbi.nlm.nih.gov/pubmed/31085954 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). FCD Type IIIB (Cortical Lamination Adjacent to a Glial or Glioneuronal Tumor) 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. Focal cortical dysplasia type IIIb http://www.case.edu/EpSO.owl#FocalCorticalDysplasiaTypeIIIB true true 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). https://www.epilepsydiagnosis.org/aetiology/focal-cortical-dysplasia-overview.html 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). 2018-09-16T11:23:39Z peter https://www.ncbi.nlm.nih.gov/pubmed/31085954 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). FCD Type IIIC (Cortical Lamination Adjacent to Vascular Malformation) Focal cortical dysplasia type IIIc http://www.case.edu/EpSO.owl#FocalCorticalDysplasiaTypeIIIC true true 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). https://www.epilepsydiagnosis.org/aetiology/focal-cortical-dysplasia-overview.html 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. 2018-09-16T11:25:19Z peter https://www.ncbi.nlm.nih.gov/pubmed/31085954 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). FCD Type IIID (Cortical Lamination Abnormality Adjacent to Any Other Lesion Acquired During Early Life) Focal cortical dysplasia type IIId http://www.case.edu/EpSO.owl#FocalCorticalDysplasiaTypeIIID true true 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). https://www.epilepsydiagnosis.org/aetiology/focal-cortical-dysplasia-overview.html An abnormal level of an analyte measured in the blood. 2019-01-12T13:45:59Z peter Abnormal circulating metabolite concentration 2019-01-27T16:44:33Z peter Abnormal immune system morphology A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis. 2019-01-27T16:44:42Z peter https://www.ncbi.nlm.nih.gov/pubmed/30711777 Granulomas 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. Granuloma http://www.case.edu/EpSO.owl#Granulomas true 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. 2019-02-14T11:40:50Z peter This subontology is intended to help record summary information about family members if only a limited amount of information is available or required. Family history https://www.webmd.com/epilepsy/epilepsy-common-causes#1 true true Status epilepticus with prominent motor signs during the prolonged seizure. peter Status epilepticus with prominent motor symptoms A type of status epilepticus without prominent motor symptoms and in the presence of coma. peter https://www.ncbi.nlm.nih.gov/pubmed/19744116 Subtle status epilepticus 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. Non-convulsive status epilepticus with coma true 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 peter Tonic-clonic status epilepticus 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. Convulsive status epilepticus A type of bilateral convulsive seizure of generalized onset that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus. peter https://www.ncbi.nlm.nih.gov/pubmed/26336950 Generalised convulsive status epilepticus Generalized convulsive status epilepticus true 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. peter https://www.ncbi.nlm.nih.gov/pubmed/26920416 Focal onset seizure evolving into bilateral convulsive status epilepticus Focal-onset seizure evolving into generalized convulsive status epilepticus Partial onset seizure evolving into convulsive status epilepticus Partial-onset seizure evolving into convulsive status epilepticus Secondarily generalised tonic-clonic status epilepticus Secondarily generalized convulsive status epilepticus Secondarily generalized tonic-clonic status epilepticus Focal-onset seizure evolving into bilateral convulsive status epilepticus true 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. peter https://www.ncbi.nlm.nih.gov/pubmed/24977129 Including aware and unaware focal motor status epilepticus, but note that hyperkinetic status epilepticus (of focal onset) is classified separately. Focal motor status epilepticus true 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. peter https://www.ncbi.nlm.nih.gov/pubmed/26336950 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. Hyperkinetic status epilepticus true 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. peter https://www.ncbi.nlm.nih.gov/pubmed/26336950 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. Myoclonic status epilepticus true 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. peter https://www.ncbi.nlm.nih.gov/pubmed/26336950 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. Tonic status epilepticus true A type of status epilepticus without prominent motor symptoms in the absence of coma. peter Non-convulsive status epilepticus without coma 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. peter https://www.ncbi.nlm.nih.gov/pubmed/26336950 focal non-convulsive status epilepticus without impairment of consciousness Semiology may include autonomic, sensory, visual, olfactory, gustatory, emotional/psychic/experiential, or cognitive symptoms. Consciousness or awareness may be intact or impaired. Focal non-convulsive status epilepticus without coma true Any deviation from the normal circulating creatine kinase concentration. HPO:skoehler UMLS:C4022449 Abnormal circulating CK concentration Abnormal circulating CPK concentration Abnormal circulation phospho-CK concentration Abnormal levels of creatine kinase in blood Abnormal circulating creatine kinase concentration An early onset of puberty, in this case early does not refer to precocious. doelkens 2010-05-04T10:35:02Z UMLS:C4022392 Early onset of sexual maturation human_phenotype HP:0100000 Early onset of sexual maturation An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. doelkens 2010-05-28T11:48:50Z HP:0001294 MSH:D009069 SNOMEDCT_US:60342002 UMLS:C0026650 Abnormality of movement Movement disorder Unusual movement human_phenotype HP:0100022 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. Abnormality of movement 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. doelkens 2010-06-10T12:10:29Z https://www.ncbi.nlm.nih.gov/books/NBK2609/ https://www.ncbi.nlm.nih.gov/pubmed/29791879 UMLS:C2169806 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. Tic disorder Tics human_phenotype HP:0100033 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. Tics true true 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. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#tics An abnormality of the structure or form of the tendons, also often called sinews. doelkens 2010-07-20T01:20:19Z UMLS:C4021026 Abnormal shape of tendon Abnormality of the sinew human_phenotype HP:0100261 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. Abnormal tendon morphology Hemorrhage occurring between the dura mater and the skull. doelkens 2010-08-10T03:05:35Z https://www.ncbi.nlm.nih.gov/pubmed/7469854 MSH:D006407 SNOMEDCT_US:428268007 SNOMEDCT_US:82999001 UMLS:C0238154 Epidural haematoma Epidural haemorrhage Epidural hematoma Extradural haematoma Extradural hematoma human_phenotype HP:0100310 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. Epidural hemorrhage true Abnormality in the process of thought including the ability to process information. doelkens 2010-12-20T06:50:32Z HP:0002128 HP:0002129 HP:0002302 HP:0002337 HP:0002441 HP:0006972 HP:0006998 HP:0007211 https://www.ncbi.nlm.nih.gov/pubmed/25905906 MSH:D060825 SNOMEDCT_US:386806002 UMLS:C0338656 UMLS:C0683322 Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Cognitive impairment Intellectual impairment Mental impairment human_phenotype HP:0100543 Cognitive impairment true true A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition. doelkens 2010-12-27T12:42:59Z https://www.ncbi.nlm.nih.gov/pubmed/28488762 MSH:D020757 SNOMEDCT_US:88032003 UMLS:C0149793 Amaurosis human_phenotype HP:0100576 Amaurosis fugax true true doelkens 2010-12-30T11:39:15Z UMLS:C4022001 Abnormality of the cerebral blood vessels human_phenotype HP:0100659 Abnormality of the cerebral vasculature doelkens 2011-06-07T10:01:04Z UMLS:C4021978 Abnormal spit Abnormality of salivation human_phenotype HP:0100755 Abnormality of salivation 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. doelkens 2011-06-07T11:53:08Z Stomach churning SNOMEDCT_US:271838002 SNOMEDCT_US:80306002 UMLS:C0232474 UMLS:C0857071 Increased abdominal peristals human_phenotype Increased Abdominal Peristals HP:0100770 Hyperperistalsis true Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract. doelkens 2011-06-07T11:53:08Z SNOMEDCT_US:77853002 UMLS:C0232475 UMLS:C4020700 decresed abdominal peristalsis human_phenotype Decreased Abdominal Peristalsis Intestinal hypoperistalsis HP:0100771 Hypoperistalsis true Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent. doelkens 2011-06-09T05:58:09Z SNOMEDCT_US:15013002 SNOMEDCT_US:162278001 SNOMEDCT_US:420999000 UMLS:C0016242 UMLS:C1720491 Eye floaters Flitting flies Mouches volantes Myodeopsia Myodesopsia Spots in front of eyes Vitreous condensations Vitreous debris Vitreous opacities Vitreous veils human_phenotype Spots HP:0100832 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. Vitreous floaters true An abnormality of the partial pressure of oxygen in the arterial blood. 2018-10-17T15:14:35Z Abnormal blood O2 level Abnormal blood oxygen levels Abnromal O2 blood concentration Abnormal blood oxygen level A loss of consciousness followed by stiffening and brief clonic movements affecting some or all limbs, often misinterpreted as an epileptic seizure. 2018-11-20T13:57:33Z https://www.ncbi.nlm.nih.gov/books/NBK2609/ 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 Reflex anoxic seizure Reflex anoxic seizures Reflex asystolic syncope true true 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 https://www.epilepsydiagnosis.org/epilepsy-imitators.html#reflex-anoxic data item Data items include counts of things, analyte concentrations, and statistical summaries. 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. 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. 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. 2009-03-16: removed datum as alternative term as datum specifically refers to singular form, and is thus not an exact synonym. 2014-03-31: See discussion at http://odontomachus.wordpress.com/2014/03/30/aboutness-objects-propositions/ 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 PERSON: Alan Ruttenberg PERSON: Chris Stoeckert PERSON: Jonathan Rees data data item information content entity Examples of information content entites include journal articles, data, graphical layouts, and graphs. A generically dependent continuant that is about some thing. An information content entity is an entity that is generically dependent on some artifact and stands in relation of aboutness to some entity 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). 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. PERSON: Chris Stoeckert OBI_0000142 information content entity measurement datum 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,}. A measurement datum is an information content entity that is a recording of the output of a measurement such as produced by a device. 2/2/2009 is_specified_output of some assay? person:Chris Stoeckert OBI_0000305 group:OBI measurement datum 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. Albert Goldfain Alexander Diehl Lindsay Cowell https://www.ncbi.nlm.nih.gov/pubmed/26423537 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. infection http://www.case.edu/EpSO.owl#Infection true 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. occurrent emotion short-term emotion emotion process true Anger is a negative emotion, characterised by feelings of unpleasantness and high arousal, in the form of antagonistic feelings and action tendencies. [Source: OCEAS] colère ira wut angry anger true enraged violent and uncontrolled anger rage https://www.epilepsy.com/connect/forums/family-friends/epilepsy-and-rage-episodes true true violent and uncontrolled anger https://www.merriam-webster.com/dictionary/rage 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] angst miedo peur afraid fear true terrified A state of intense or overwhelming fear terror https://www.epilepsy.com/connect/forums/living-epilepsy-adults/feelings-terror-seizures true true A state of intense or overwhelming fear https://www.merriam-webster.com/dictionary/terror 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] freude gozo joie joyful https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4756129/ joy true true A positive emotion which is experienced in reaction to a positive experience or event. [Source: OCEAS] bonheur felicidad glück happy happiness 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] trauer tristesse tristeza sad sadness https://www.epilepsy.org.uk/info/depression true true An affective process is any process that has positive or negative valence. affective process http://www.jbiomedsem.com/content/1/1/10 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. pathological mental process 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. https://www.ncbi.nlm.nih.gov/books/NBK20369/ 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) https://www.ncbi.nlm.nih.gov/pubmed/30473971 delusion true The recurrence of a memory, feeling, or perceptual experience from the past. DSM-IV-TR (american Psychiatric Association) flashback https://link.springer.com/content/pdf/10.1684/epd.2013.0550.pdf true true 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) https://www.ncbi.nlm.nih.gov/pubmed/9579937 dissociation true A state of unresponsiveness with immobility and mutism. DSM-IV-TR (american Psychiatric Association) https://www.ncbi.nlm.nih.gov/pubmed/16650147 stupor true true 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 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. Panic panic attack true true 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. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#panic-attacks Symptom or feature of mental illness typically characterized by radical changes in personality, impaired functioning, and a distorted or nonexistent sense of objective reality. psychosis https://www.epilepsy.com/learn/challenges-epilepsy/moods-and-behavior/mood-and-behavior-101/psychosis true true 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 anhedonia true Absence, poverty, or loss of control of voluntary muscle movements. http://medical-dictionary.thefreedictionary.com/akinesia akinesia true Feeling of emotional and mental discomfort as a symptom of discontentment, restlessness, dissatisfaction, malaise, depression, anxiety or indifference. http://en.wikipedia.org/wiki/Dysphoria Displeasure dysphoria https://www.frontiersin.org/10.3389/conf.fnhum.2012.210.00006/event_abstract true true Refers to disorganized thinking as evidenced by disorganized speech. formal thought disorder (FTD) https://www.ncbi.nlm.nih.gov/pubmed/9291731 Specific thought disorders include derailment, poverty of speech, tangentiality, illogicality, perseveration, neologism, and thought blocking. http://en.wikipedia.org/wiki/Thought_disorder thought disorder (TD) true A mental process that creates, modifies or has as participant some cognitive representation. cognitive process a mental process that involves the manipulation of mental language and/or mental images act of thinking thinking https://www.epilepsy.com/learn/challenges-epilepsy/thinking-and-memory true true 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 perception true 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. A bodily process which brings into being, sustains or modifies a cognitive representation or a beahvior inducing state. mental process A mental disposition is a bodily disposition that is realized in a mental process. mental disposition 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. act of daydreaming http://en.wikipedia.org/wiki/Daydream https://www.ncbi.nlm.nih.gov/pubmed/29791879 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. daydreaming/inattention daydreaming true true 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. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#daydreaming 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. measurement_method_ontology MMO:0000024 ultrasound method true 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. mshimoyama 2010-09-01T09:58:30Z https://www.ncbi.nlm.nih.gov/pubmed/26167207 measurement_method_ontology urinalysis MMO:0000147 urine analysis true 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. JSmith 2013-11-13T11:01:51Z measurement_method_ontology MMO:0000433 urine electrolyte analysis 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. JSmith 2013-11-13T11:19:45Z https://www.ncbi.nlm.nih.gov/pubmed/31911412 urine sodium ion analysis measurement_method_ontology urine Na+ analysis MMO:0000434 urine sodium analysis true 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. JSmith 2013-11-13T11:19:49Z urine potassium ion analysis measurement_method_ontology urine K+ analysis MMO:0000435 urine potassium analysis DC:0000690 OMIMPS:606777 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. MONDO:0000188 Editor note: todo http://identifiers.org/hgnc/11005 GLUT1 deficiency syndrome true 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. https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html#glucose 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. https://www.ncbi.nlm.nih.gov/pubmed/23534590 DOID:0050798 ICD10:E72.8 OMIMPS:300352 Orphanet:79172 UMLS:CN227588 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. CCDS CDS cerebral creatine deficiency syndrome creatine deficiency syndrome MONDO:0000456 cerebral creatine deficiency syndrome true true 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. https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period. https://www.ncbi.nlm.nih.gov/pubmed/25777785 DOID:0080015 EFO:0003915 ICD10:Q00.Q99 ICD9:759.89 ICD9:759.9 MESH:D000013 NCIT:C2849 SCTID:276654001 UMLS:CN232116 SCONG birth defect congenital Abnormality congenital abnormality congenital anatomic Abnormality congenital anatomical Abnormality congenital anomalies of fetus congenital anomaly congenital anomaly or birth defect congenital defect congenital defect/deformity congenital deformity congenital malformation congenital malformations defect/deformity, Congenital defect/deformity, congenital deformity/defect, Congenital physical disorder CM - congenital malformation fetal developmental abnormality fetal malformation foetal malformation MONDO:0000839 congenital abnormality true 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. DOID:150 ICD10:F99 ICD10:F99-F99 MESH:D001523 MFOMD:0000004 NCIT:C2893 Psychiatric disease Psychiatric disorder disease of mental health mental disorder mental dysfunction mental illness MONDO:0002025 psychiatric disorder A rare slow growing benign tumor of aberrant and ectatic venous connections. https://www.ncbi.nlm.nih.gov/pubmed/11076003 DOID:467 ICD9:228.09 ICDO:9122/0 NCIT:C4296 SCTID:403968005 UMLS:C0334532 Venous angioma Venous malformation MONDO:0003083 venous hemangioma http://www.case.edu/EpSO.owl#VenousAngioma true A hemangioma characterized by the presence of cavernous vascular spaces. MONDO:0006124 https://www.ncbi.nlm.nih.gov/pubmed/24134485 DOID:483 EFO:1000151 HP:0001048 ICD10:D18.0 ICDO:9121/0 MESH:D006392 NCIT:C3086 SCTID:416824008 UMLS:C0018920 cavernoma cavernous angioma cavernous haemangioma cavernous hemangioma cavernous hemangioma (morphologic abnormality) MONDO:0003155 cavernous hemangioma http://www.case.edu/EpSO.owl#CavernousAngioma true 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. cell process disease COHD:438112 DOID:14566 EFO:0000616 HP:0002664 ICD10:C00.D48 ICD9:140-239.99 ICD9:239.8 ICD9:239.9 MESH:D009369 NCIT:C3262 ONCOTREE:OTHER SCTID:55342001 UMLS:CN236628 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. disease of cellular proliferation neoplasia neoplasm neoplastic disease neoplastic growth tumor tumor disease other neoplasm MONDO:0005070 neoplasm (disease) true Epileptogenic tumors are, in the majority, biologically benign lesions that do not usually change over time. As a result, they do not require oncological surgery and surveillance, instead their management centres on control of seizures. Some tumors are highly associated with refractory epilepsy, and are amenable to epilepsy surgery due to their anatomic and imaging features, epilepsy surgery is therefore an important treatment option for this group of patients. https://www.epilepsydiagnosis.org/aetiology/tumors-overview.html A disease that has its basis in the disruption of mental process. EFO:0000677 ICD10:F00.F99 ICD9:290-299.99 ICD9:298.8 ICD9:V11.9 NIFSTD:birnlex_12669 SCTID:74732009 UMLS:CN240636 disorder of mental process mental or behavioural disorder mental process disease disorder of mental process MONDO:0005084 mental disorder 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. COHD:440032 EFO:0001062 ICD9:078.5 MESH:D003586 NCIT:C53649 SCTID:28944009 UMLS:C0010823 CMV infection Cytomegaloviral infection HCMV infection MONDO:0005132 cytomegalovirus infection Inflammation of the brain and the spinal cord. DOID:640 EFO:0001423 ICD9:323.9 MESH:D004679 NCIT:C34580 SCTID:62950007 UMLS:C0014070 central nervous system inflammation encephalitis &/or myelitis encephalitis and/or myelitis inflammation of central nervous system MONDO:0005156 encephalomyelitis true 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) https://www.ncbi.nlm.nih.gov/pubmed/20161538 EFO:0003852 MESH:D002658 MONDO:0005287 developmental disability true A seizure caused by a localized disorder. DOID:2234 EFO:0004263 ICD9:345.50 MESH:D004828 NCIT:C122812 SCTID:230381009 UMLS:C0014547 localisation-related epilepsy partial epilepsy focal epilepsy MONDO:0005384 partial epilepsy https://www.ncbi.nlm.nih.gov/pubmed/31578307 EFO:0004777 ICD9:291.81 SCTID:191480000 UMLS:C0236663 Alcohol withdrawal syndrome (AWS) is the name for the symptoms that occur when a heavy drinker suddenly stops or significantly reduces their alcohol intake. alcohol withdrawal syndrome MONDO:0005433 alcohol withdrawal true Alcohol withdrawal syndrome (AWS) is the name for the symptoms that occur when a heavy drinker suddenly stops or significantly reduces their alcohol intake. https://www.healthline.com/health/alcoholism/withdrawal 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. DOID:0060001 EFO:0005800 ICD9:292.0 MESH:D013375 NCIT:C35046 SCTID:363101005 UMLS:C0152128 drug withdrawal drug withdrawal syndrome substance withdrawal substance withdrawal disorder substance withdrawal syndrome withdrawal syndrome withdrawal disorder MONDO:0005567 substance withdrawal syndrome 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) EFO:0007200 ICD9:130.0 MESH:D016781 SCTID:192701001 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. Toxoplasma encephalitis encephalitis due to acquired toxoplasmosis meningoencephalitis due to toxoplasmosis MONDO:0005697 cerebral toxoplasmosis true 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. https://www.epilepsydiagnosis.org/aetiology/infectious-groupoverview.html 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. DOID:3329 GARD:0010287 ICD10:G40.0 ICD9:345.80 NCIT:C116538 OMIM:117100 Orphanet:1945 SCTID:44145005 UMLS:C0376532 UMLS:C2363129 UMLS:CN200685 BCECTS BECRS BECTS BRE benign Rolandic epilepsy benign childhood epilepsy with centrotemporal spike benign childhood epilepsy with centrotemporal spikes benign epilepsy of childhood with centrotemporal spikes benign epilepsy with centrotemporal spikes benign familial epilepsy of childhood with rolandic spikes benign rolandic epilepsy centrotemporal epilepsy rolandic epilepsy sylvan seizures CENTRALOPATHIC epilepsy benign epilepsy of childhood with centrotemporal spikes (BECCT) benign epilepsy with centro-temporal spikes (BECTS) benign rolandic epilepsy (BRE) benign rolandic epilepsy of childhood (BREC) temporal-central focal epilepsy MONDO:0007295 rolandic epilepsy http://www.case.edu/EpSO.owl#ChildhoodRolandicEpilepsy https://rarediseases.info.nih.gov/diseases/10287/benign-rolandic-epilepsy-bre true Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ2 gene. https://www.ncbi.nlm.nih.gov/pubmed/30782577 MESH:C567743 OMIM:121200 UMLS:C3149074 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. KCNQ2 benign neonatal seizures benign familial neonatal seizure benign neonatal seizures caused by mutation in KCNQ2 seizures, benign familial neonatal, 1 seizures, benign familial neonatal, type 1 BFNS1 epilepsy, benign neonatal, 1, and/or myokymia seizures, benign familial neonatal, 1, and/or myokymia seizures, benign familial neonatal, 1; BFNS1 MONDO:0007365 seizures, benign familial neonatal, 1 true 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. https://ghr.nlm.nih.gov/condition/benign-familial-neonatal-seizures OMIM:130200 electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon epileptic encephalopathy with continous spikes and wave during sleep MONDO:0007530 electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon http://www.case.edu/EpSO.owl#Fourteen-SixHertzPositiveBurst 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. GARD:0004176 ICD10:G96.8 MESH:C566817 OMIM:168885 Orphanet:1179 SCTID:763127004 UMLS:C1868576 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. Ouvrier-Billson syndrome benign paroxysmal tonic upgaze Ouvrier Billson syndrome paroxysmal tonic upgaze, benign childhood, with ataxia MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia true 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. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#benign-paro 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. GARD:0002166 MESH:C535496 OMIM:226810 Orphanet:1459 UMLS:C1856930 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 CEC celiac disease, epilepsy, and cerebral calcification syndrome bilateral occipital calcifications with epilepsy celiac disease epilepsy occipital calcifications epilepsy occipital calcifications epilepsy with bilateral occipital calcifications familial unilateral and bilateral occipital calcifications and epilepsy MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome true 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 https://www.epilepsydiagnosis.org/aetiology/antibody-mediated-overview.html#celiac 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). GARD:0009298 ICD10:G40.8 MESH:C536254 Orphanet:3006 SCTID:734434007 UMLS:C1849508 UMLS:CN203406 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. antiquitin deficiency pyridoxine-dependent epilepsy vitamin B6-dependent seizures AASA dehydrogenase deficiency EPD epilepsy, pyridoxine-dependent epilepsy, pyridoxine-dependent; Epd pyridoxine dependency pyridoxine dependency with seizures MONDO:0009945 pyridoxine-dependent epilepsy true 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. https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html#pyridoxine Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p. GARD:0008421 ICD10:Q99.8 ICD9:758.81 MESH:C538105 NCIT:C75458 OMIM:601803 Orphanet:884 SCTID:9527009 UMLS:C0265449 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. Isochromosome 12p mosaicism Isochromosome 12p syndrome Pallister-Killian syndrome tetrasomy type 12p Hexasomy 12P, Mosaic Isochromosome 12P syndrome Killian Teschler-Nicola syndrome Killian syndrome PKS Pallister Killian syndrome Pallister mosaic syndrome Pallister-Killian mosaic syndrome Pallister-Killian syndrome; PKS Teschler-Nicola Killian syndrome chromosome 12, Isochromosome 12p syndrome tetrasomy 12P, Mosaic MONDO:0011146 tetrasomy 12p true 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. https://www.epilepsydiagnosis.org/aetiology/chromosomal-abnormalities-overview.html#pallister MESH:C565296 OMIM:605751 UMLS:C1853995 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 benign familial infantile seizure seizures, benign familial infantile, 2 seizures, benign familial infantile, type 2 BFIS2 convulsions, benign familial infantile, 2 seizures, benign familial infantile, 2; BFIS2 MONDO:0011593 seizures, benign familial infantile, 2 true 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 https://www.omim.org/entry/605751 Bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma. https://www.ncbi.nlm.nih.gov/pubmed/2512371 EFO:0005669 ICD9:431 MESH:D002543 OMIM:614519 SCTID:274100004 hemorrhage, intracerebral, susceptibility to hemorrhage, intracerebral, susceptibility to; ich ich stroke, hemorrhagic, susceptibility to MONDO:0013792 Editor note: consider separate subclass for OMIM ID intracerebral hemorrhage http://www.case.edu/EpSO.owl#IntracerebralHemorrhage true OMIM:616421 UMLS:C4085238 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. Doose syndrome Epilepsy with myoclonic-atonic seizures myoclonic-atonic epilepsy mae myoclonic-atonic epilepsy; mae MONDO:0014633 myoclonic-atonic epilepsy true 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. https://www.epilepsydiagnosis.org/syndrome/lks-overview.html 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. GARD:0006072 ICD10:Q93.2 ICD9:758.89 MESH:C535487 OMIM:616606 Orphanet:1440 SCTID:702345009 UMLS:CN233170 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. Ring chromosome type 14 RING chromosome 14 syndrome Ring 14 chromosome 14 ring MONDO:0014708 ring chromosome 14 true 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. https://www.epilepsydiagnosis.org/aetiology/chromosomal-abnormalities-overview.html#ring14 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. EFO:1001383 GARD:0010009 ICD10:G25.3 ICD9:379.59 MESH:D053578 MedDRA:10053854 NCIT:C4686 Orphanet:1183 SCTID:230350000 UMLS:C0393626 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. Ataxo-opso-myoclonus syndrome Kinsbourne syndrome OMS POMA syndrome dancing eye syndrome dancing eye-dancing feet syndrome oma syndrome opsoclonus myoclonus syndrome opsoclonus-myoclonus-ataxia syndrome paraneoplastic opsoclonus-myoclonus paraneoplastic opsoclonus-myoclonus-ataxia syndrome MONDO:0015247 opsoclonus-myoclonus syndrome true 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. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#opsoclonus-myoclonus 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. ICD10:G40.3 Orphanet:139431 SCTID:716278005 UMLS:C4274731 UMLS:CN199399 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. EMEA epilepsy with eyelid myoclonias eyelid myoclonia with and without absences MONDO:0015346 Jeavons syndrome true 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. https://www.epilepsydiagnosis.org/syndrome/emwa-overview.html 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. GARD:0001334 ICD10:Q93.2 ICD9:758.89 MESH:C580424 Orphanet:1444 SCTID:23686004 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. Ring chromosome type 20 R20 Ring 20 Ring chromosome 20 syndrome chromosome 20 ring MONDO:0015436 ring chromosome 20 true 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. https://www.epilepsydiagnosis.org/aetiology/chromosomal-abnormalities-overview.html#ring20 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. GARD:0011005 ICD10:G40.5 Orphanet:163703 SCTID:725413002 UMLS:CN199955 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. AERRPS DESC syndrome FIRES acute encephalitis with refractory repetitive partial seizures acute non-herpetic encephalitis with severe refractory status epilepticus devastating epileptic encephalopathy in school-aged children fever-induced refractory epileptic encephalopathy in school-aged children idiopathic catastrophic epileptic encephalopathy severe refractory status epilepticus owing to presumed encephalitis status epilepticus owing to presumed encephalitis MONDO:0015584 febrile infection-related epilepsy syndrome true 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. https://www.epilepsydiagnosis.org/aetiology/febrile-infection-related-epilepsy-overview.html Orphanet:166311 MONDO:0015642 benign partial infantile seizures 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. ICD10:G40.8 Orphanet:166427 SCTID:763632004 UMLS:CN200058 MONDO:0015648 startle epilepsy true true Orphanet:166463 syndromic epilepsy MONDO:0015650 epilepsy syndrome Orphanet:166475 UMLS:CN200064 MONDO:0015654 idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes Orphanet:166484 UMLS:CN200066 MONDO:0015657 inflammatory and autoimmune disease with epilepsy Orphanet:166490 UMLS:CN200068 MONDO:0015659 infectious disease with epilepsy 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. GARD:0005305 ICD10:Q92.3 MESH:C538299 Orphanet:1699 UMLS:C0795845 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. Duplication 12p trisomy type 12p 12p duplication 12p trisomy chromosome 12p duplication partial trisomy 12p MONDO:0015723 trisomy 12p true 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. https://www.epilepsydiagnosis.org/aetiology/chromosomal-abnormalities-overview.html#trisomy12p Orphanet:182064 UMLS:CN200514 MONDO:0015916 rare neuroinflammatory or neuroimmunological disease https://github.com/monarch-initiative/mondo/issues/254 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. glioma neuroglial tumor DOID:3070 ICDO:9380/3 KEGG:05214 MedDRA:10018338 NCIT:C4822 OMIMPS:137800 Orphanet:182067 UMLS:C0555198 glial cell tumor glioma, malignant high grade glioma high-grade glioma malignant glial neoplasm malignant glial tumor malignant glioma malignant neuroglial neoplasm malignant neuroglial tumor MONDO:0015917 malignant glioma 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. GARD:0007527 ICD10:G04.8 ICD9:323.9 MESH:C535291 NCIT:C125384 Orphanet:1929 SCTID:230191005 UMLS:C2930868 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. CFE Rasmussen Encephalitis Rasmussen encephalitis Rasmussen syndrome chronic focal encephalitis RE MONDO:0016019 Rasmussen subacute encephalitis http://www.case.edu/EpSO.owl#RasmussenEncephalitis true 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. https://www.epilepsydiagnosis.org/aetiology/rasmussen-overview.html 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. DOID:14264 ICD10:G40.3 MedDRA:10067866 NCIT:C117307 OMIMPS:121200 Orphanet:1949 SCTID:38281008 BFNS benign Familal neonatal seizures benign familial convulsion benign familial convulsions benign familial neonatal convulsions benign familial neonatal seizures benign neonatal convulsions seizures, benign familial neonatal MONDO:0016027 benign neonatal seizures ICD9:333.99 Orphanet:200037 SCTID:230310003 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. MONDO:0016058 paroxysmal dystonia 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. https://www.sciencedirect.com/topics/medicine-and-dentistry/paroxysmal-dystonia 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). EFO:0000614 GARD:0007162 ICD10:G47.4 ICD10:G47.41 ICD10:G47.419 ICD9:347.0 MedDRA:10028713 Orphanet:2073 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. GC)lineau disease Gélineau disease narcolepsy with cataplexy narcolepsy-cataplexy syndrome Gelineau syndrome Gelineau's syndrome narcoleptic syndrome paroxysmal sleep MONDO:0016158 narcolepsy-cataplexy syndrome true 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. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#narcolepsy https://www.ncbi.nlm.nih.gov/pubmed/15146004 GARD:0002661 ICD10:Q04.8 Orphanet:2149 SCTID:253151003 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. Nodular Heterotopias genetic nodular heterotopia nodular heterotopia hereditary nodular heterotopia MONDO:0016292 nodular neuronal heterotopia http://www.case.edu/EpSO.owl#NodularHeterotopias true 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. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=98892 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). https://www.ncbi.nlm.nih.gov/pubmed/28658095 HP:0001355 ICD10:Q04.5 ICD9:742.4 MESH:D058627 MedDRA:10050183 Orphanet:2477 SCTID:9740002 macroencephaly megalencephaly MONDO:0016608 megalencephaly (disease) http://www.case.edu/EpSO.owl#Megalencephaly true MedDRA:10065869 Orphanet:251592 MONDO:0016685 low-grade astrocytoma 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. GARD:0005907 ICD10:C71.9 NCIT:C7173 ONCOTREE:DASTR Orphanet:251595 UMLS:C0280785 WHO grade II astrocytoma astrocytoma, diffuse astrocytoma, diffuse, malignant diffuse astrocytoma grade II astrocytic neoplasm grade II astrocytic tumor grade II astrocytoma fibrillary astrocytoma (histologic variant) gemistocytic astrocytoma (histologic variant) low-grade astrocytoma, NOS low-grade diffuse astrocytoma protoplasmic astrocytoma (histologic variant) MONDO:0016686 diffuse astrocytoma 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) DOID:6726 ICD10:C71.9 ICDO:9420/3 MedDRA:10065889 NCIT:C4322 Orphanet:251601 UMLS:C0334582 diffuse astrocytoma fibrillary astrocytic tumors fibrillary astrocytoma MONDO:0016688 fibrillary astrocytoma https://www.epilepsy.com/learn/professionals/co-existing-disorders/brain-tumors/astrocytoma true Orphanet:251651 UMLS:CN201945 mixed oligodendroglial and astrocytic tumor MONDO:0016701 oligoastrocytic tumor 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) DOID:7912 EFO:0000630 GARD:0009769 ICD10:C71.9 MedDRA:10027744 NCIT:C4050 ONCOTREE:OAST Orphanet:251656 SCTID:716647001 UMLS:C0280793 MOA WHO grade II mixed glioma glioma, mixed, benign mixed astrocytic-oligodendroglial neoplasm mixed astrocytic-oligodendroglial tumor mixed astrocytoma-oligodendroglioma mixed oligo-astrocytoma mixed oligoastrocytoma mixed oligodendroglioma-astrocytoma oligoastrocytoma MONDO:0016702 oligoastrocytoma http://www.case.edu/EpSO.owl#Oligoastrocytoma 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. ICD10:C71.9 ICDO:9431/1 NCIT:C92552 ONCOTREE:ANGL Orphanet:251671 UMLS:C2363903 Monomorphus angiocentric glioma angiocentric glioma (WHO grade I) angiocentric neuroepithelial tumor ANGL MONDO:0016705 angiocentric glioma http://www.case.edu/EpSO.owl#AngiocentricGlioma true Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis. HP:0010533 ICD10:F98.4 MedDRA:10059593 Orphanet:279882 SCTID:400948003 UMLS:C1527306 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. Spasmus nutans MONDO:0017201 Spasmus nutans (disease) true 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. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#spasmus An infection with the Cytomegalovirus that is present from birth. GARD:0001409 GARD:0001480 ICD10:P35.1 NCIT:C122427 Orphanet:294 SCTID:276701009 UMLS:C0349499 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. antenatal CMV infection antenatal cytomegalovirus infection congenital Cytomegaloviral infection mother-to-child transmission of cytomegalovirus syndrome CMV antenatal infection congenital cytomegalovirus MONDO:0017409 fetal cytomegalovirus syndrome true 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. https://www.epilepsydiagnosis.org/aetiology/infectious-groupoverview.html Orphanet:306765 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. MONDO:0017656 motor stereotypies true Stereotypies (or mannerisms) are repetitive movements, postures, or utterances that may be simple (such as body rocking, head banging) or complex (such as finger movements or wrist flexion/extension). They may be primary (seen in otherwise normal individuals) or secondary (associated with autism, intellectual impairment and other disorders). Stereotypies can be distinguished from epileptic automatisms by the characteristic movements (a video of events can be helpful to aid diagnosis). 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. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#stereotypies Orphanet:306768 UMLS:CN227171 paroxysmal movement disorder MONDO:0017657 rare paroxysmal movement disorder https://github.com/monarch-initiative/mondo/issues/254 https://www.epilepsydiagnosis.org/epilepsy-imitators.html#paroxysmal true 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. GARD:0005153 ICD10:Q99.8 MESH:C580205 Orphanet:3306 SCTID:723332005 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. Duplication/inversion type 15q11 Inv dup(15) Invdup(15) Isodicentric 15 chromosome duplication/inversion 15q11 idic(15) non-distal tetrasomy 15q non-telomeric tetrasomy 15q Isodicentric chromosome 15 syndrome chromosome 15q tetrasomy inverted duplication 15 tetrasomy 15q MONDO:0018027 duplication/inversion 15q11 true true 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. https://www.epilepsydiagnosis.org/aetiology/chromosomal-abnormalities-overview.html#inv-dup 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. https://www.ncbi.nlm.nih.gov/pubmed/31830676 GARD:0012244 ICD10:G41.8 Orphanet:363558 Norse De novo cryptogenic refractory multifocal febrile status epilepticus New onset refractory status epilepticus MONDO:0018199 new-onset refractory status epilepticus true Orphanet:363567 MONDO:0018200 acute encephalopathy with inflammation-mediated status epilepticus 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). https://www.ncbi.nlm.nih.gov/pubmed/32062735 DOID:0060170 ICD10:G40.3 MESH:C565808 NCIT:C122811 OMIMPS:604233 Orphanet:36387 SCTID:699688008 UMLS:C3502809 GEFS+ epilepsy, generalized, with febrile seizures plus generalized epilepsy with febrile seizures-plus MONDO:0018214 generalized epilepsy with febrile seizures plus http://www.case.edu/EpSO.owl#GeneralizedEpilepsyWithFebrileSeizuresPlus true A paraneoplastic syndrome that involves the nervous system. GARD:0007326 ICD9:331.89 MedDRA:10072106 Orphanet:36388 SCTID:192877007 PCD PNS nervous system paraneoplastic syndrome paraneoplastic syndrome of nervous system paraneoplastic cerebellar degeneration MONDO:0018215 paraneoplastic neurologic syndrome 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) DOID:0080014 ICD9:758.89 MESH:D025063 NCIT:C34470 Orphanet:68335 SCTID:409709004 Chromosomal Abnormality chromosomal anomaly chromosomal disease autosomal chromosome disorder autosomal chromosome disorders chromosomal disorder chromosomal disorders chromosome Abnormality disorder chromosome Abnormality disorders chromosome disorder chromosome disorder, autosomal chromosome disorders, autosomal disorder, chromosomal disorder, chromosome disorder, chromosome Abnormality disorders, chromosomal disorders, chromosome MONDO:0019040 chromosomal anomaly http://www.case.edu/EpSO.owl#ChromosomalAbnormality https://www.epilepsydiagnosis.org/aetiology/chromosomal-abnormalities-overview.html true 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 https://www.ncbi.nlm.nih.gov/pubmed/28671587 DOID:655 MESH:D008661 MedDRA:10058097 MedDRA:10062018 NCIT:C34816 Orphanet:68367 SCTID:86095007 UMLS:C0025521 congenital metabolic disorder congenital metabolism disorder hereditary metabolic disease inborn error of metabolism inborn errors of metabolism inborn metabolism disorder inherited metabolic disorder metabolic hereditary disorder rare inborn errors of metabolism rare inherited metabolic disorder rare metabolic disease MONDO:0019052 inborn errors of metabolism true Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia. GARD:0009684 MESH:C537234 MedDRA:10066142 NCIT:C113397 Orphanet:71272 SCTID:230314007 UMLS:C0338465 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. Sandifer's syndrome MONDO:0019104 Sandifer syndrome true 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. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#sandifer 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. ICD10:G24.3 Orphanet:71518 SCTID:719521002 UMLS:CN205631 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. BPTI Benign paroxysmal torticollis MONDO:0019113 benign paroxysmal torticollis of infancy true 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. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#benign-torticollis 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. GARD:0010949 ICD10:G47.2 ICD10:G47.24 Orphanet:73267 SCTID:230496009 circadian rhythm sleep disorder, free running type circadian rhythm sleep disorder, free-running type hypernychthemeral syndrome non-24 non 24 hour sleep wake disorder MONDO:0019137 non-24-hour sleep-wake syndrome http://www.case.edu/EpSO.owl#NonTwentyFourHourSleepWakeSyndrome 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. ICD10:G40.3 Orphanet:79097 SCTID:717276003 UMLS:CN205780 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. Folinic acid responsive seizures MONDO:0019197 Editor note: TODO request from CHEBI folinic acid-responsive seizures true 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. https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html#creative steroid-responsive encephalopathy associated with thyroid disease GARD:0008570 ICD10:G04.8 MESH:C535841 Orphanet:83601 UMLS:C0393639 SREAT Hashimoto encephalitis Hashimoto's encephalitis Hashimoto's encephalopathy MONDO:0019385 Editor note: TODO DP for chebi roles steroid-responsive encephalopathy associated with autoimmune thyroiditis ICD10:G40.4 Orphanet:86908 SCTID:230407006 HHE syndrome IHHS hemiconvulsion-hemiplegia-epilepsy syndrome MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome https://www.medlink.com/index.php/article/hemiconvulsion-hemiplegia-epilepsy_syndrome true ICD10:G40.3 Orphanet:86909 UMLS:CN206266 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. benign myoclonic epilepsy of infancy benign myoclonus epilepsy of infancy MONDO:0019486 myoclonic epilepsy of infancy true 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. https://www.epilepsydiagnosis.org/syndrome/mei-overview.html ICD10:G40.4 Orphanet:86911 SCTID:230422001 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. Tassinari syndrome MONDO:0019487 epilepsy with myoclonic absences true 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. https://www.epilepsydiagnosis.org/syndrome/epilepsy-myoclonic-absences-overview.html An acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi. https://www.ncbi.nlm.nih.gov/pubmed/26592968 ICD9:049.8 ICD9:323.4 MESH:D000069544 NCIT:C79550 SCTID:312215006 encephalitis infection MONDO:0020067 infectious encephalitis true ICD10:G40.4 Orphanet:98257 UMLS:CN206974 MONDO:0020070 neonatal epilepsy syndrome A epilepsy syndrome that occurs between 28 days to one year of life.. ICD10:G40.4 Orphanet:98258 UMLS:CN206975 epilepsy syndrome of infancy infantile onset epilepsy syndrome MONDO:0020071 infantile epilepsy syndrome A epilepsy syndrome that occurs during childhood. ICD10:G40.4 Orphanet:98259 UMLS:CN206976 childhood epilepsy syndrome epilepsy syndrome of childhood pediatric epilepsy syndrome pediatric epilepsy syndrome MONDO:0020072 childhood-onset epilepsy syndrome https://www.epilepsydiagnosis.org/syndrome/epilepsy-syndrome-groupoverview.html# true 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. ICD10:G40.0 Orphanet:98816 UMLS:CN207128 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. late-onset benign childhood occipital epilepsy MONDO:0020308 benign childhood occipital epilepsy, Gastaut type true 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. https://www.epilepsydiagnosis.org/syndrome/late-childhood-occipital-overview.html 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. GARD:0013295 Orphanet:98820 SCTID:764522009 UMLS:CN207131 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. FFEVF familial partial epilepsy with variable foci MONDO:0020310 familial focal epilepsy with variable foci true 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. https://www.epilepsydiagnosis.org/syndrome/ffevf-overview.html 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. Orphanet:99701 MTLE-HS MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis true 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. GARD:0006513 MESH:D005910 NCIT:C3059 SCTID:393564001 UMLS:C0017638 glial neoplasm glial tumor glioma neoplasm of neuroglia neoplasm of the neuroglia neuroglial neoplasm neuroglial tumor tumor of neuroglia tumor of the neuroglia MONDO:0021042 glioma http://www.case.edu/EpSO.owl#Glioma 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. MESH:D060426 NCIT:C94853 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 anti-NMDA receptor encephalitis MONDO:0021081 anti-NMDA receptor encephalitis true 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 https://www.epilepsydiagnosis.org/aetiology/antibody-mediated-overview.html#anti-nmda 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. MESH:D018302 NCIT:C3787 ONCOTREE:PRNET neoplasm of neuroepithelial tissue neoplasm of neuroepithelium neoplasm of the neuroepithelium neuroepithelial neoplasm neuroepithelial neoplasms neuroepithelial tissue neoplasm neuroepithelial tissue tumor neuroepithelial tumor neuroepithelial tumors tumor of neuroepithelial tissue tumor of neuroepithelium tumor of the neuroepithelium primary neuroepithelial tumor MONDO:0021193 Editor note consider adding grouping class for Neuroepithelial, Perineurial, and Schwann Cell Neoplasm neuroepithelial neoplasm A neoplasm (disease) that involves the nervous system. COHD:444200 NCIT:C3268 neoplasm of nervous system neoplasm of the nervous system nervous system neoplasm (disease) nervous system neoplasms nervous system tumor nervous system tumour tumor of nervous system tumor of the nervous system MONDO:0021248 nervous system neoplasm 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. NCIT:C132067 UMLS:C1997217 low grade glioma low-grade glioma MONDO:0021637 low grade glioma http://www.case.edu/EpSO.owl#LowGradeGlioma 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). NCIT:C116342 UMLS:C3898569 low grade astrocytic neoplasm low grade astrocytic tumor low-grade astrocytic neoplasm low-grade astrocytic tumor MONDO:0021638 low grade astrocytic tumor A glioma arising from the central nervous system. This category includes diffuse astrocytoma, ependymoma, oligodendroglioma, and oligoastrocytoma. NCIT:C132505 UMLS:C4330050 WHO grade II glioma grade II glioma MONDO:0021639 grade II glioma Either an isolated neoplasm or a syndrome with neoplasm as a major feature. neoplastic disease neoplastic disorder MONDO:0023370 neoplastic disease or syndrome A non-neoplastic disorder that is the result of defects of vascular morphogenesis. MESH:D054079 Cerebral vascular malformations are a heterogeneous group of disorders that may be associated with epilepsy. vascular malformation malformation, vascular malformations, vascular MONDO:0024291 The majority are present at birth. Some can be acquired. vascular malformation http://www.case.edu/EpSO.owl#VascularMalformation true Cerebral vascular malformations are a heterogeneous group of disorders that may be associated with epilepsy. https://www.epilepsydiagnosis.org/aetiology/vascular-malformations-overview.html 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) ICD10:G47.2 ICD9:327.30 NCIT:C95071 SCTID:3745000 circadian sleep disorder disorders of the sleep-wake schedule sleep-wake schedule disorder MONDO:0024361 circadian rhythm sleep disorder 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. https://www.ncbi.nlm.nih.gov/pubmed/6955943 MESH:D010468 perceptual disturbances MONDO:0024417 perceptual disorders true 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. https://www.ncbi.nlm.nih.gov/pubmed/28116304 MESH:D062026 NCIT:C116362 Teleopsia MONDO:0024429 Alice in wonderland syndrome http://www.case.edu/EpSO.owl#Teleopsia true 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. NCIT:C36255 secondary neoplasm secondary tumor MONDO:0024882 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. secondary neoplasm 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. ICDO:8000/6 NCIT:C3261 Metastatic Tumor metastatic disease metastatic neoplasm metastatic tumor MONDO:0024883 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 http://www.case.edu/EpSO.owl#MetastaticTumor A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs. https://www.ncbi.nlm.nih.gov/pubmed/8500435 MESH:D020752 NCIT:C84348 SCTID:78572006 UMLS:C0265316 neurocutaneous syndrome Phacomatoses Phacomatosis Phakomatoses neurocutaneous disorder neurocutaneous disorders neuroectodermal dysplasia neuroectodermal dysplasia syndrome neuroectodermal dysplasia syndromes phakomatosis syndrome, neurocutaneous syndrome, neuroectodermal dysplasia syndromes, neurocutaneous syndromes, neuroectodermal dysplasia MONDO:0042983 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 neurocutaneous syndrome true 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) https://www.ncbi.nlm.nih.gov/pubmed/24761136 GARD:0007437 MESH:D004834 SCTID:75023009 UMLS:C0751126 post-traumatic epilepsy Epilepsies, post-traumatic Epilepsies, traumatic PTE - post-traumatic epilepsy concussive convulsion concussive convulsions convulsion, concussive convulsions, concussive disorder, post-traumatic seizure disorders, post-traumatic seizure early post traumatic seizures early post-traumatic seizure early post-traumatic seizures epilepsy, post traumatic epilepsy, traumatic impact seizure impact seizures late post traumatic seizures late post-traumatic seizure late post-traumatic seizures post traumatic seizure disorder post-traumatic Epilepsies post-traumatic seizure disorder post-traumatic seizure disorders post-traumatic seizure, early post-traumatic seizure, late post-traumatic seizures, early post-traumatic seizures, late seizure disorder, post traumatic seizure disorder, post-traumatic seizure disorders, post-traumatic seizure, early post-traumatic seizure, late post-traumatic seizures, early post-traumatic seizures, late post-traumatic traumatic Epilepsies traumatic epilepsy MONDO:0043264 post-traumatic epilepsy true 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). https://www.ncbi.nlm.nih.gov/pubmed/23551133 GARD:0010166 MESH:D065634 SCTID:230744007 cerebrospinal fluid leak CSF leak CSF otorrhea CSF rhinorrhea Drainages, cerebrospinal fluid Leakages, cerebrospinal fluid Leaks, cerebrospinal fluid cerebrospinal fluid Drainages cerebrospinal fluid Leakages cerebrospinal fluid Leaks cerebrospinal fluid drainage cerebrospinal fluid drainage, post traumatic cerebrospinal fluid drainage, post-traumatic cerebrospinal fluid drainage, spontaneous cerebrospinal fluid drainage, traumatic cerebrospinal fluid leak, post traumatic cerebrospinal fluid leak, post-traumatic cerebrospinal fluid leak, spontaneous cerebrospinal fluid leak, traumatic cerebrospinal fluid leakage cerebrospinal fluid leakage, post traumatic cerebrospinal fluid leakage, post-traumatic cerebrospinal fluid leakage, spontaneous cerebrospinal fluid leakage, traumatic csf - cerebrospinal fluid leak drainage, cerebrospinal fluid fluid Drainages, cerebrospinal fluid Leakages, cerebrospinal fluid Leaks, cerebrospinal fluid drainage, cerebrospinal fluid leak, cerebrospinal fluid leakage, cerebrospinal leak, cerebrospinal fluid leakage, cerebrospinal fluid spinal CSF leak spinal cerebrospinal fluid leak spinal cerebrospinal fluid leak, post traumatic spinal cerebrospinal fluid leak, post-traumatic spinal cerebrospinal fluid leak, spontaneous spinal cerebrospinal fluid leak, traumatic MONDO:0043327 cerebrospinal fluid leak true 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. MESH:D001930 brain injury injury of brain brain Traumas brain trauma MONDO:0043510 brain injury https://www.epilepsy.com/learn/about-epilepsy-basics/what-are-risk-factors true 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. MONDO:0044970 mitochondrial disease https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html#mitochondrial true 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. https://www.ncbi.nlm.nih.gov/pubmed/27476418 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. 2018-06-22T22:43:29Z 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. atonic-benign childhood epilepsy with centrotemporal spikes atypical benign partial epilepsy of childhood pseudo-Lennox syndrome MONDO:0100020 atypical childhood epilepsy with centrotemporal spikes true 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. https://www.epilepsydiagnosis.org/syndrome/atypical-ects-overview.html 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. 2018-06-22T22:48:33Z 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. MONDO:0100021 photosensitive occipital lobe epilepsy true 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. https://www.epilepsydiagnosis.org/syndrome/idiophatic-pole-overview.html An epilepsy sydrome that has an onset during the neonatal or infantile stage of life. 2018-06-22T23:34:03Z http://orcid.org/0000-0001-8486-0558 MONDO:0100022 neonatal/infantile epilepsy syndrome 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. 2018-06-22T23:54:03Z https://www.ncbi.nlm.nih.gov/pubmed/32038177 SCTID:733195008 UMLS:C4518639 MONDO:0100025 epilepsy of infancy with migrating focal seizures true 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. 2018-06-22T23:56:39Z 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. MONDO:0100026 myoclonic encephalopathy in non-progressive disorder true 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. https://www.epilepsydiagnosis.org/syndrome/menpd-overview.html 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. 2018-06-22T23:58:47Z https://www.ncbi.nlm.nih.gov/pubmed/25917466 MONDO:0100027 febrile seizures plus, genetic epilepsy with febrile seizures plus true An immune epilepsy where the underlying cause is antibody mediated. 2018-06-23T00:52:42Z Antibody mediated etiologies MONDO:0100029 antibody mediated epilepsy https://www.epilepsydiagnosis.org/aetiology/antibody-mediated-overview.html true An epilepsy syndrome that has an onset during the adolescent or adult stage of life. 2018-06-23T01:43:18Z http://orcid.org/0000-0001-8486-0558 MONDO:0100030 adolescent/adult-onset epilepsy syndrome https://www.epilepsydiagnosis.org/syndrome/epilepsy-syndrome-groupoverview.html true 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. 2018-06-23T01:47:18Z 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. autosomal dominant partial /lateral temporal epilepsy with auditory features MONDO:0100031 autosomal dominant epilepsy with auditory features http://www.case.edu/EpSO.owl#AutosomalDominantPartialEpilepsyWithAuditoryFeatures true 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. https://www.epilepsydiagnosis.org/syndrome/adeaf-overview.html 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. 2018-06-23T01:48:38Z 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. MONDO:0100032 familial temporal lobe epilepsy syndrome true 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. https://www.epilepsydiagnosis.org/syndrome/other-familial-temporal-lobe-overview.html 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. 2018-06-23T19:01:19Z 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. MONDO:0100034 cerebral folate deficiency true 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. https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html#creative An epilepsy syndrome that has an onset during variable ages and stages of life. 2018-06-23T19:42:08Z variable age at onset electroclinical syndrome DOID:0050706 http://orcid.org/0000-0001-8486-0558 MONDO:0100036 variable age onset epilepsy any structural anomaly of the skin folds covering the front of the eyeball eyelid abnormalities abnormal blephara morphology abnormal blepharon morphology abnormal eye lid morphology abnormal eyelids morphology abnormal palpebra morphology abnormal palpebrae morphology eyelid dysplasia MPheno.ontology MP:0001340 abnormal eyelid morphology 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 MP:0000305 MPheno.ontology MP:0001629 abnormal heart rate aberrant reaction of the microcirculation characterized by movement of fluid and leukocytes from the blood into extravascular tissues inflammation inflammatory response MPheno.ontology MP:0001845 abnormal inflammatory response greater than expected response to injury, infection, or insult MPheno.ontology MP:0001846 increased inflammatory response local accumulation of fluid, plasma proteins, and leukocytes in the brain https://www.ncbi.nlm.nih.gov/pubmed/21135885 encephalitis MPheno.ontology MP:0001847 brain inflammation true breathing that is shallower and/or slower than normal https://www.ncbi.nlm.nih.gov/pubmed/17984449 HypopneaSyndrome hypopnoea MPheno.ontology MP:0001956 hypopnea http://www.case.edu/EpSO.owl#HypopneaSyndrome true anomaly in the normal reflex of closing the eyes frequently and rapidly MP:0001478 blinking abnormalities MPheno.ontology MP:0001993 abnormal blinking https://www.epilepsysociety.org.uk/absence-seizures#.XEhRulwzbIU true true reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle https://www.ncbi.nlm.nih.gov/pubmed/26441491 decreased respiratory sinus arrhythmia MPheno.ontology reduced heart rate variability MP:0003929 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. decreased heart rate variability true 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 MPheno.ontology MP:0003953 abnormal hormone level aberration in the blood or tissue concentration of any of the hormones secreted by the pituitary MP:0005125 MPheno.ontology MP:0003965 abnormal pituitary hormone level 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 https://www.ncbi.nlm.nih.gov/pubmed/20696621 abnormal FSH level abnormal follitropin level MPheno.ontology MP:0003967 abnormal follicle stimulating hormone level true aberrant levels in the bloodstream of LH, the hormone that regulates steroid production by the interstitial cells of the testis and the ovary https://www.ncbi.nlm.nih.gov/pubmed/20696621 abnormal ICSH level abnormal LH level abnormal interstitial cell-stimulating hormone level abnormal lutropin level MPheno.ontology MP:0003969 abnormal luteinizing hormone level true anomaly in the appearance of regularly spaced contractions of the heart due to defects in the frequency, rate, pattern or extent of heart contraction abnormal cardiac contraction abnormal heart beat abnormal heart beating abnormal heart contraction abnormal heart rhythm MPheno.ontology MP:0004085 abnormal heartbeat lack of a spontaneously beating heart (usually due to defects in the calcium delivery mechanism or loss of a functional contractile apparatus) https://www.ncbi.nlm.nih.gov/pubmed/25966854 asystole MPheno.ontology MP:0004086 absent heartbeat true any anomaly in the normal phenomenon of mild acceleration and slowing of the heart rate that occurs during the respiratory cycle Fyler:7011 abnormal RSA abnormal SA abnormal respiratory sinus arrythmia MPheno.ontology abnormal heart rate variability MP:0004122 abnormal sinus arrhythmia decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness https://www.ncbi.nlm.nih.gov/pubmed/26394714 hypotonicity hypotonus MPheno.ontology MP:0004144 hypotonia true true anomaly in the average time for the first postnatal eye opening, or failure of eyes to ever open abnormal timing of eye lid opening MPheno.ontology MP:0004874 In mouse, eyelids normally fuse about 5 days prior to birth and reopen about 19 days later (P8-12). abnormal timing of postnatal eyelid opening any anomaly in the actions, reactions, or performance of an organism in response to external or internal stimuli compared to controls abnormal behaviour MPheno.ontology abnormal general behavior abnormal general behaviour MP:0004924 abnormal behavior 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) https://www.ncbi.nlm.nih.gov/books/NBK390347/ Abnormal EEG Pattern abnormal ECoG pattern abnormal EEG pattern abnormal electrocorticogram pattern MPheno.ontology MP:0004994 abnormal brain wave pattern http://www.case.edu/EpSO.owl#AbnormalEEGPattern true eyes remain shut when eyelids are expected to be open closed eyes eye lids fail to open eyelids don't open eyes fail to open MPheno.ontology closed eyes MP:0005176 In mouse, eyelids normally fuse about 5 days prior to birth and reopen about 19 days later. eyelids fail to open true aberrant amount of ammonia or its compounds in blood, formed in the body during organic decomposition abnormal ammonia level https://www.ncbi.nlm.nih.gov/pubmed/26088882 https://www.ncbi.nlm.nih.gov/pubmed/27768938 MPheno.ontology Hyperammonaemia MP:0005308 abnormal circulating ammonia level true disorder characterized by pathologic startle responses, protective reactions to unanticipated, potentially threatening, stimuli of any type, particularly auditory https://www.ncbi.nlm.nih.gov/books/NBK2609/ 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. MPheno.ontology MP:0005604 hyperekplexia https://rarediseases.org/rare-diseases/hyperekplexia/ true true 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. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#hyperekplexia local accumulation of fluid, plasma proteins, and leukocytes in the brain and/or spinal cord encephalomyelitis MPheno.ontology MP:0006082 CNS inflammation anomaly in the processes involved in the maintenance of an internal equilibrium of various functions or chemical or protein composition of the blood MP:0000179 MP:0001546 abnormal blood chemistry blood chemistry abnormalities MPheno.ontology MP:0009642 abnormal blood homeostasis appearance of a neuron or group of neurons in a region where it is not normally found csmith 2012-09-27T02:37:58Z https://www.ncbi.nlm.nih.gov/pubmed/25180909 Neuronal Heterotopia neuronal ectopia neuronal heterotopia MPheno.ontology MP:0011723 ectopic neuron http://www.case.edu/EpSO.owl#NeuronalHeterotopia true any anomaly of the amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase https://www.ncbi.nlm.nih.gov/pubmed/28288363 elevated lactate MP:0013403 Lactate levels in the blood are used as an index of anerobic carbohydrate metabolism. abnormal circulating lactate level A change of place or position of part of an organism that does not involve the entire organism [NBO:SMAC] 2011-04-14T01:03:39Z George Gkoutos stationary movement behavior_ontology body part movement 2011-04-14T01:03:39Z George Gkoutos behavior_ontology whole body movement "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] 2011-04-14T01:03:39Z George Gkoutos affective behaviour mood behavior_ontology emotional behavior The act of moving any of the tissues and hard structures surrounding the mouth other than teeth, jaws or filter structures [NBO:AC] 2011-04-14T01:03:39Z George Gkoutos mouth part movement other moved mouth parts behavior_ontology mouth movement true "Observable characteristic of behavior associated with the specific movement from place to place of an organism." [NBO:GVG] 2011-04-14T12:58:40Z George Gkoutos pathological locomotory behaviour behavior_ontology locomotory behavior phenotype Movement from place to place of an organism." [GO:0007626] 2011-04-14T01:03:39Z George Gkoutos locomotion behavior_ontology GO:0007626 GO:0008344 locomotory behavior The act of seizing with teeth or jaws an object or organism so as to grip or break the surface covering [NBO:AC] 2011-04-14T01:03:39Z George Gkoutos https://www.ncbi.nlm.nih.gov/pubmed/7487261 bite behavior_ontology biting true true The act of stroking or touching with the tongue [NBO:AC] 2011-04-14T01:03:39Z George Gkoutos lick behavior_ontology licking https://www.aboutkidshealth.ca/article?contentid=2060&language=english true true A change in place or position of the portion of the organism containing the brain, mouth and main sense organs [NBO:SMAC] 2011-04-14T01:03:39Z George Gkoutos move head behavior_ontology head movement 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] 2011-04-14T01:03:39Z George Gkoutos groom grooming behaviour behavior_ontology hygiene GO:0007625 grooming behavior "Loss of power of voluntary movement in a muscle through injury or disease of its nerve supply." [JAX:<new dbxref>] 2011-04-14T01:18:37Z George Gkoutos behavior_ontology HP:0003470 MP:0000753 paralysis The act of locomoting on limbs with body off the ground such that at least one limb is always touching the ground [NBO:AC] 2011-04-14T01:03:39Z George Gkoutos walking behavior_ontology GO:0007628 walking behavior The act of dragging claws or nails over a surface [NBO:AC] 2011-04-14T01:03:39Z George Gkoutos https://www.ncbi.nlm.nih.gov/pubmed/29414563 scratch scratching behavior behavior_ontology scratching true true "Behavior related to a variety of aspects of the relationship between the mind and the world with which it interacts." [wikipedia:Consciousness] 2011-04-14T01:20:02Z George Gkoutos behavior_ontology consciousness behavior https://www.epilepsybehavior.com/article/S1525-5050(13)00484-8/fulltext true The act of bringing an object or substance into the body by swallowing, surrounding or absorbing it [NBO:SMAC] 2011-04-14T01:20:02Z George Gkoutos feeding behaviour behavior_ontology GO:0007631 feeding behavior "Moving backwards." [NBO:GVG] 2011-03-31T10:32:40Z George Gkoutos behavior_ontology retropulsion true true "A behavior that occur quickly without control, planning, or consideration of the consequences of that behavior." [NBO:GVG] 2011-03-31T11:08:55Z George Gkoutos https://www.ncbi.nlm.nih.gov/pubmed/16103019 behavior_ontology impulsive behavior true "A behavior associated with the intake of liquid." [NBO:GVG] 2011-03-31T12:40:37Z George Gkoutos behavior_ontology liquid consumption "A drinking behavior associated with the intake of alcohol." [NBO:GVG] 2011-03-31T12:40:53Z George Gkoutos behavior_ontology alcohol consumption https://www.epilepsy.org.uk/info/daily-life/alcohol true true 2011-03-31T03:00:57Z George Gkoutos Rapid eye movement sleep (REM) sleep is the portion of sleep when there are rapid eye movements (REMs). REM sleep Sleep Onset Rapid Eye Movement paradoxical sleep behavior_ontology rapid eye movement sleep http://www.case.edu/EpSO.owl#SleepOnsetRapidEyeMovement https://n.neurology.org/content/90/15_Supplement/P3.278 true Rapid eye movement sleep (REM) sleep is the portion of sleep when there are rapid eye movements (REMs). https://www.medicinenet.com/script/main/art.asp?articlekey=8681 2011-04-04T07:50:00Z George Gkoutos https://www.ncbi.nlm.nih.gov/pubmed/26441491 Excitement is a feeling or situation full of activity, joy, exhilaration, or upheaval behavior_ontology excitement overexcitement excitement behavior true Excitement is a feeling or situation full of activity, joy, exhilaration, or upheaval https://www.vocabulary.com/dictionary/excitement "An observable characteristic of the behavior of an organism." [NBO:RH] 2011-04-04T08:51:24Z George Gkoutos behavior_ontology HP:0000708 behavioral phenotype "Cognitive perception of a sensation by any of the five senses -- vision, touch, smell, taste, and hearing." [NBO:GVG] 2011-04-04T10:00:45Z George Gkoutos NBO:0000454 behavior involving perception perception behavior behavior_ontology Example: moving head to watch passing object. sensation behavior "The action, reaction, or performance of an organism in response to external or internal stimuli." [GO:GO\:0007610] 2011-04-05T09:53:10Z George Gkoutos NBO:0000000 behavior behaviour behavior_ontology GO:0007610 behavior process "Movement behavior of the body or its parts." 2011-04-05T02:08:47Z George Gkoutos behavior_ontology kinesthetic behavior "Behavior associated with surface locomotion." [NBO:GVG] 2011-04-06T09:44:37Z George Gkoutos behavior_ontology terrestrial locomotory behavior "Behavior related to movements that occur independent of planning." [NBO:GVG] 2011-04-06T02:35:38Z George Gkoutos behavior_ontology Movevents listed here are involuntary, but may be also generated by free will, like blinking of the eyelids and respiratory movements. involuntary movement behavior "Behavior related to involuntary movement in response to a stimulus." [NBO:GVG] 2011-04-06T02:36:55Z George Gkoutos NBO:0000004 reflex behaviour behavior_ontology reflexive behavior "Reflex actions originating in the central nervous system that are exhibited by normal infants in response to particular stimuli." [wikipedia:Primitive_reflexes] 2011-04-06T02:44:15Z George Gkoutos infant reflex infantile reflex newborn reflex behavior_ontology primitive reflex "An action or movement due to the application of a sudden unexpected stimulus." [wikipedia:Startle_reflex] 2011-04-06T02:55:21Z George Gkoutos alarm reaction behavior_ontology startle reflex "Observable characteristic of behavior related to the readily reversible state of reduced awareness and metabolic activity that occurs periodically in many animals." [NBO:GVG] 2011-04-07T01:19:38Z George Gkoutos behavior_ontology sleeping behavior phenotype "A NREM parasomnia characterised by abrupt awakening from sleep with behavior consistent with terror and a temporary inability to regain full consciousness." [NBO:GVG] 2011-04-07T01:25:22Z George Gkoutos https://www.ncbi.nlm.nih.gov/books/NBK2609/ Pavor nocturnus night terror pavor nocturnus behavior_ontology sleep terror http://www.case.edu/EpSO.owl#NightTerror true "An action or movement due to the application of a sudden unexpected loud noise." [NBO:GVG] 2011-04-07T05:31:27Z George Gkoutos Acoustic Startle behavior_ontology acoustic startle reflex https://www.epilepsy.com/learn/professionals/about-epilepsy-seizures/reflex-seizures-and-related-epileptic-syndromes/startle true true "A pouting or pursing of the lips that is elicited by light tapping of the closed lips near the midline." [wikipedia:Snout_reflex] 2011-04-07T05:47:28Z George Gkoutos Pursing behavior_ontology pursing snout reflex true 2011-04-08T02:18:40Z George Gkoutos behavior_ontology rhythmic behavior phenotype "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] 2011-04-08T02:20:42Z George Gkoutos behavior_ontology dyssomnia 2011-04-08T02:21:57Z George Gkoutos Intrinsic sleep disorders are disorders that originate or develop within the body or that arise from causes within the body. behavior_ontology intrinsic sleep disorder true Intrinsic sleep disorders are disorders that originate or develop within the body or that arise from causes within the body. https://www.ncbi.nlm.nih.gov/pubmed/22033666 "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] 2011-04-08T03:20:06Z George Gkoutos 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. Parasomnias behavior_ontology parasomnia http://www.case.edu/EpSO.owl#Parasomnias true true 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. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#parasomnias "An intrinsic sleep disorder characterised by breathing abnormalities." [NBO:GVG] 2011-04-08T03:27:40Z George Gkoutos https://www.ncbi.nlm.nih.gov/pubmed/29287215 SBD sleep-disordered breathing sleep-related breathing disorder behavior_ontology sleep breathing disorder true "A type of parasomnia that occurs during NREM sleep." [NBO:GVG] 2011-04-08T03:37:10Z George Gkoutos https://www.ncbi.nlm.nih.gov/pubmed/10996566 behavior_ontology NREM parasomnia true "A NREM parasomnia characterised by talking during sleep." [NBO:GVG] 2011-04-09T10:02:28Z George Gkoutos SleepTalking sleep-talking behavior_ontology somniloquy http://www.case.edu/EpSO.owl#SleepTalking https://www.epilepsy.com/learn/challenges-epilepsy/sleep-and-epilepsy/sleep-disorders true "A type of parasomnia that occurs during REM sleep." [NBO:GVG] 2011-04-09T10:07:11Z George Gkoutos behavior_ontology REM parasomnia "A REM parasomnia characterised by periods of inability to perform voluntary movements either when going to sleep or when waking up." [wikipedia:Sleep_paralysis] 2011-04-09T10:24:27Z George Gkoutos https://www.ncbi.nlm.nih.gov/pubmed/19162231 behavior_ontology sleep paralysis http://www.case.edu/EpSO.owl#SleepParalysis true The act of moving food from the mouth cavity to the esophagus through coordinated muscular movements [NBO:AC] 2011-04-10T10:39:39Z George Gkoutos swallow behavior_ontology swallowing https://www.mayoclinic.org/diseases-conditions/temporal-lobe-seizure/symptoms-causes/syc-20378214 true true "Observable characteristic of behavior related to the movement of the body's muscles, tendons, and joints." [NBO:GVG] 2011-04-14T08:31:34Z George Gkoutos behavior_ontology kinesthetic behavior phenotype Movement of the head in the vertical plane. [NBO:GVG] 2011-04-14T08:39:38Z George Gkoutos head nodding nod head nods behavior_ontology head bobbing https://www.epilepsy.com/learn/types-seizures/atonic-seizures true "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] 2011-04-14T10:15:17Z George Gkoutos horripilation piloerection behavior_ontology pilomotor reflex true "An involuntary rhythmical, oscillatory movement of a body part." [NBO:GVG] 2011-04-14T11:13:39Z George Gkoutos quivering shivering trembling behavior_ontology HP:0001337 MP:0000745 tremor https://genetic.org/wp-content/uploads/2017/07/Elizabeth-Berry-Kravis-seizures-and-tremor-AXYS-2017.pdf true true "Behaviour related to cognitive processes." [NBO:JH] 2011-04-14T03:51:13Z George Gkoutos behavior_ontology cognitive behavior "Perception in the absence of a stimulus." [wikipedia:Hallucination] 2011-04-14T03:52:31Z George Gkoutos 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. behavior_ontology Hallucinations in psychiatric disorders HP:0000738 hallucination true 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. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#hallucinations "A form of hallucination that involves perceiving images without visual stimulus." [NBO:GVG] 2011-04-14T03:54:02Z George Gkoutos Polyopia paracusia behavior_ontology HP:0008765 visual hallucination http://www.case.edu/EpSO.owl#Polyopia true "A form of hallucination that involves perceiving sounds without auditory stimulus." [wikipedia:Auditory_hallucination] 2011-04-14T03:56:24Z George Gkoutos behavior_ontology HP:0002367 auditory hallucination https://emedicine.medscape.com/article/1184509-clinical true true "A form of hallucination that involves perceiving odors without odor stimulus." [NBO:GVG] 2011-04-14T03:58:15Z George Gkoutos phantosmia behavior_ontology olfactory hallucination http://www.tasteandsmell.com/june2013.htm true true "Observable characteristic of behavior related to movements that occur independent of planning." [NBO:GVG] 2011-05-27T11:56:52Z George Gkoutos behavior_ontology involuntary movement behavior phenotype "Observable characteristic of behavior related to movements executed with intent." [NBO:GVG] 2011-05-27T11:57:12Z George Gkoutos behavior_ontology voluntary movement behavior phenotype "A type of seizure generated by sudden sensor stimulation caused by the environment." [NBO:GVG] 2011-05-28T11:07:41Z George Gkoutos https://www.ncbi.nlm.nih.gov/books/NBK2596/ environmental epilepsy reflex epilepsy behavior_ontology MP:0009358 reflex seizure true "A type of seizure associated with a significant rise in body temperature." [wikpedia:http\://en.wikipedia.org/wiki/Febrile_seizure] 2011-05-27T05:13:26Z George Gkoutos febrile convulsion fever fit behavior_ontology HP:0002373 febrile seizure https://www.epilepsy.com/learn/about-epilepsy-basics/what-are-risk-factors https://www.mayoclinic.org/diseases-conditions/febrile-seizure/symptoms-causes/syc-20372522 true true "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] 2011-05-27T05:24:49Z George Gkoutos https://www.ncbi.nlm.nih.gov/pubmed/32086099 benign (childhood) epilepsy with centrotemporal (EEG) spikes behavior_ontology benign rolandic epilepsy true "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] 2011-05-27T05:31:27Z George Gkoutos https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6039834/ LTLE behavior_ontology lateral temporal lobe epilepsy http://www.case.edu/EpSO.owl#LateralTemporalEpilepsy true 2011-05-27T05:39:40Z George Gkoutos 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. behavior_ontology continuous seizure true 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. https://epilepsychicago.org/epilepsy/seizure-types/status-epilepticus/ "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] 2011-05-27T05:47:13Z George Gkoutos https://www.ncbi.nlm.nih.gov/pubmed/21633606 https://www.ncbi.nlm.nih.gov/pubmed/31617494 non-epileptic seizure behavior_ontology provoked seizure true "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] 2011-05-27T05:50:08Z George Gkoutos PNES non-epileptic attack disorder behavior_ontology psychogenic non-epileptic seizure https://www.epilepsysociety.org.uk/non-epileptic-seizures#.XJhlBXduLIV true "An absence seizure induced by hyperventilation." [NBO:GVG] 2011-05-28T11:59:14Z George Gkoutos 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. behavior_ontology typical absence seizure true 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. https://www.epilepsydiagnosis.org/seizure/absence-typical-overview.html "An absence seizure not induced by hyperventilation." [NBO:GVG] 2011-05-28T11:59:31Z George Gkoutos 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. behavior_ontology HP:0007270 atypical absence seizure true 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. https://www.epilepsydiagnosis.org/seizure/absence-atypical-overview.html "Purposeless repetitive motor activities that often occur during a seizure." [NBO:GVG] 2011-05-28T12:14:35Z George Gkoutos behavior_ontology Automatisms may occur during complex partial or absence seizures. automatism true true "An automatism characterised by involuntary movement of the limbs or body such as fumbling, picking and rubbing." [NBO:GVG] 2011-05-28T12:17:42Z George Gkoutos https://www.ncbi.nlm.nih.gov/pubmed/29325826 behavior_ontology Fumbling gestural automatism true true "A type of seizure induced by the administration of a drug." [NBO:GVG] 2011-05-28T12:32:11Z George Gkoutos behavior_ontology drug induced seizure http://www.medlink.com/article/drug-induced_seizures true "A type of seizure induced by termination of drug administration." [NBO:GVG] 2011-05-28T12:35:22Z George Gkoutos https://www.ncbi.nlm.nih.gov/pubmed/31832260 behavior_ontology drug withdrawal induced seizure true "A type of seizure induced by termination of alcohol administration." [NBO:GVG] 2011-05-28T01:19:06Z George Gkoutos behavior_ontology alcohol withdrawal induced seizure https://www.fairview.org/patient-education/115703EN true "A type of epilepsy that is characterised a sudden burst of energy, usually in the form of laughing." [NBO:GVG] 2011-05-28T11:12:42Z George Gkoutos https://www.ncbi.nlm.nih.gov/pubmed/15528919 gelastic seizure behavior_ontology HP:0010821 gelastic epilepsy true "A type of epilepsy that is characterised a sudden paroxysmal crying." [NBO:<new dbxref>, NBO:GVG] 2011-05-28T11:18:45Z George Gkoutos https://www.ncbi.nlm.nih.gov/pubmed/29170920 dacrystic seizure behavior_ontology HP:0010820 dacrystic epilepsy true 2012-03-17T09:51:17Z gkoutos behavior_ontology jaw movement The act of displacing part or all of the tongue from its current position [NBO:SMAC] 2012-03-17T09:52:25Z gkoutos behavior_ontology tongue movement "Behavior related to the intake of substances." [NBOC:GVG] George Gkoutos ingest consumption behavior GC_ID:1 ncbi_taxonomy all root https://www.ncbi.nlm.nih.gov/pubmed/22938964 GC_ID:1 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. Mongolian gerbil Mongolian jird ncbi_taxonomy Meriones unguiculatus true 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. http://purl.obolibrary.org/obo/NCIT_C77100 NCBITaxon:85055 https://www.ncbi.nlm.nih.gov/pubmed/28332054 GC_ID:1 Mus Musculus is the polytypic species which encompasses all the subspecies and geographical or chromosomal races of the house mouse. house mouse mouse ncbi_taxonomy mice C57BL/6xCBA/CaJ hybrid Mus musculus true Mus Musculus is the polytypic species which encompasses all the subspecies and geographical or chromosomal races of the house mouse. https://www.sciencedirect.com/topics/agricultural-and-biological-sciences/mus-musculus NCBITaxon:42821 https://www.ncbi.nlm.nih.gov/pubmed/22938964 GC_ID:1 The baboon species, Papio papio. Guinea baboon Papio papio sensu Groves baboon ncbi_taxonomy Papio cynocephalus papio Papio hamadryas papio Papio papio true The baboon species, Papio papio. http://purl.obolibrary.org/obo/NCIT_C161028 NCBITaxon:36465 https://www.ncbi.nlm.nih.gov/pubmed/29933054 GC_ID:1 The common rat, Rattus norvegicus, often used as an experimental organism. Norway rat brown rat rat rats ncbi_taxonomy Rattus norvegicus8 Rattus norwegicus Rattus norvegicus true The common rat, Rattus norvegicus, often used as an experimental organism. http://purl.obolibrary.org/obo/NCIT_C14266 GC_ID:1 A cellular organism is an organism that contains one or more cells. ncbi_taxonomy biota cellular organisms A cellular organism is an organism that contains one or more cells. http://semanticscience.org/resource/SIO_010377 GC_ID:1 PMID:23020233 PMID:30257078 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. eucaryotes eukaryotes ncbi_taxonomy Eucarya Eucaryotae Eukarya Eukaryotae eukaryotes Eukaryota 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. http://tolweb.org/Eukaryotes GC_ID:1 Warm-blooded vertebrate animals belonging to the class Mammalia, including all that possess hair and suckle their young. mammals ncbi_taxonomy mammals Mammalia Warm-blooded vertebrate animals belonging to the class Mammalia, including all that possess hair and suckle their young. https://www.ncbi.nlm.nih.gov/mesh/D008322 GC_ID:1 flatworm flatworms ncbi_taxonomy flatworms Platyhelminthes NCBITaxon:133821 https://www.ncbi.nlm.nih.gov/pubmed/30711777 GC_ID:1 Taenia solium is the cause of neurocysticercosis, which has several forms including parenchymal, subarachnoid, ventricular, and spinal forms. pig tapeworm pork tapeworm ncbi_taxonomy Cysticercus cellulosae Taenia solium true Taenia solium is the cause of neurocysticercosis, which has several forms including parenchymal, subarachnoid, ventricular, and spinal forms. https://www.sciencedirect.com/topics/medicine-and-dentistry/taenia-solium GC_ID:1 nematode nematodes roundworm roundworms ncbi_taxonomy Nemata nematodes Nematoda https://www.ncbi.nlm.nih.gov/pubmed/22938964 GC_ID:1 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. roundworm ncbi_taxonomy Rhabditis elegans Caenorhabditis elegans true 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. https://www.sciencedirect.com/topics/neuroscience/caenorhabditis-elegans GC_ID:1 arthropods ncbi_taxonomy arthropods Arthropoda NCBITaxon:2267365 https://www.ncbi.nlm.nih.gov/pubmed/22938964 GC_ID:1 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. fruit fly ncbi_taxonomy Drosophila melangaster Sophophora melanogaster Drosophila melanogaster true 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. http://depts.washington.edu/cberglab/wordpress/outreach/an-introduction-to-fruit-flies/ GC_ID:1 Animals having a vertebral column, members of the phylum Chordata, subphylum Craniata comprising mammals, birds, reptiles, amphibians, and fishes. Vertebrata vertebrates ncbi_taxonomy vertebrates Vertebrata <vertebrates> Animals having a vertebral column, members of the phylum Chordata, subphylum Craniata comprising mammals, birds, reptiles, amphibians, and fishes. https://www.ncbi.nlm.nih.gov/mesh/D014714 GC_ID:1 amphibians ncbi_taxonomy amphibians Amphibia https://www.ncbi.nlm.nih.gov/pubmed/23929939 GC_ID:1 The albino Xenopus laevis tadpole is a transparent vertebrate used extensively for in vivo imaging of neuronal growth and synaptogenesis. African clawed frog clawed frog common platanna platanna ncbi_taxonomy Bufo laevis Xenopus leavis Xenopus laevis true The albino Xenopus laevis tadpole is a transparent vertebrate used extensively for in vivo imaging of neuronal growth and synaptogenesis. https://www.ncbi.nlm.nih.gov/pubmed/22938964 GC_ID:1 primate ncbi_taxonomy Primata primates Primates NCBITaxon:36502 https://www.ncbi.nlm.nih.gov/pubmed/13268119 GC_ID:1 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. Rhesus monkey rhesus macaque rhesus macaques rhesus monkeys ncbi_taxonomy Macaca mulatta Defintion modified true https://www.ncbi.nlm.nih.gov/pubmed/30219655 GC_ID:1 The primate species of mammal to which modern humans belong. human man ncbi_taxonomy Home sapiens Homo sampiens Homo sapeins Homo sapian Homo sapians Homo sapien Homo sapience Homo sapiense Homo sapients Homo sapines Homo spaiens Homo spiens Humo sapiens Homo sapiens true The primate species of mammal to which modern humans belong. https://www.medicinenet.com/script/main/art.asp?articlekey=40191 GC_ID:1 rodent ncbi_taxonomy rodents Rodentia 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) C100018 Finding Syncope with High Risk Cardiac Characteristics C3272263 CDISC 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. https://www.ncbi.nlm.nih.gov/pubmed/23190285 SYNCOPE WITH HIGH RISK CHARACTERISTICS Syncope with High Risk Cardiac Characteristics cardiac syncope Syncope with High Risk Cardiac Characteristics https://www.epilepsydiagnosis.org/epilepsy-imitators.html#longqt true true An injury sustained to a neonate during the birthing process. C101035 Finding Neonatal Injury Related to Birth C0005604 CPTAC NICHD Injury to a newborn incurred during labor and delivery. Birth Injury Birth Injury Birth Trauma Neonatal Birth Injury Neonatal Injury Related to Birth Neonatal Injury Related to Birth http://www.case.edu/EpSO.owl#BirthInjury 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. C102117 Intellectual Product European Quality of Life Five Dimension Five Level Scale Questionnaire C3640517 CDISC 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). https://www.ncbi.nlm.nih.gov/pubmed/24679945 EQ-5D-5L EQ5D02 European Quality of Life Five Dimension Five Level Scale Questionnaire European Quality of Life Five Dimension Five Level Scale Questionnaire true 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. C102122 Intellectual Product Short Form 36 Health Survey Standard, US Version 2.0 Questionnaire C3640521 CDISC 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). https://www.ncbi.nlm.nih.gov/pubmed/22512895 Medical Outcomes Survey 36-Item Short-Form Health Survey SF36 V2.0 STANDARD SF36 v2.0 Standard SF363 Short Form 36 Health Survey Short Form 36 Health Survey Standard, US Version 2.0 Questionnaire Short Form 36 Health Survey Standard, US Version 2.0 Questionnaire true A standardized rating scale used to assess an individual's general level of daytime sleepiness. C103517 Intellectual Product Epworth Sleepiness Scale Questionnaire C3541276 CDISC Epworth Sleepiness Scale (ESS) (copyright Murray W. Johns, 1990-1997. All rights reserved.). https://www.ncbi.nlm.nih.gov/pubmed/11081816 ESS ESS01 Epworth Sleepiness Scale Epworth Sleepiness Scale Questionnaire Epworth Sleepiness Scale Questionnaire true A seven item validated, self-reported questionnaire for screening, and assessing the severity of generalized anxiety disorder in clinical practice and research settings. C103519 Intellectual Product Generalized Anxiety Disorder - 7 Questionnaire C3641330 CDISC 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). https://www.ncbi.nlm.nih.gov/pubmed/28064112 GAD-7 GAD01 General Anxiety Disorder-7 General Anxiety Disorder-7 Questionnaire Generalized Anxiety Disorder - 7 Questionnaire Generalized Anxiety Disorder 7-item Scale (GAD-7) Generalized Anxiety Disorder - 7 Questionnaire true 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. C103520 Intellectual Product Hospital Anxiety and Depression Scale Questionnaire C3539657 CDISC Hospital Anxiety and Depression Scale (HADS) (copyright 1983, 1992, 1994 by R.P. Snaith and A.S. Zigmond. All rights reserved.). https://www.ncbi.nlm.nih.gov/pubmed/30599368 HADS HADS Questionnaire HADS01 Hospital Anxiety and Depression Scale Questionnaire Hospital Anxiety and Depression Scale Questionnaire (HADS) Hospital Anxiety and Depression Scale Questionnaire true 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. C103526 Intellectual Product Patient Health Questionnaire - 9 Item C4083201 CDISC 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). https://www.ncbi.nlm.nih.gov/pubmed/31026785 PHQ-9 PHQ01 Patient Health Questionnaire (PHQ-9) Patient Health Questionnaire - 9 Item Patient Health Questionnaire-9 Patient Health Questionnaire - 9 Item true A self-rated questionnaire which assesses sleep quality and disturbances over a one month time interval. C103849 Intellectual Product Pittsburgh Sleep Quality Index C3697468 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). Authors: Buysse,D.J., Reynolds,C.F., Monk,T.H., Berman,S.R., & Kupfer,D.J. (1989). https://www.ncbi.nlm.nih.gov/pubmed/26921599 PSQI PSQI1 Pittsburgh Sleep Quality Index Pittsburgh Sleep Quality Index (PSQI) SF-10 Pittsburgh Sleep Quality Index true A 9 question subset of the Treatment Satisfaction Questionnaire for Medication that omits the five items of the side effects domain. C107543 Intellectual Product Treatment Satisfaction Questionnaire for Medication C3827778 https://www.ncbi.nlm.nih.gov/pubmed/21576040 TSQM-9 Treatment Satisfaction Questionnaire for Medication Treatment Satisfaction Questionnaire for Medication (TSQM-9) Treatment Satisfaction Questionnaire for Medication true The determination of the amount of ghrelin present in a sample. C112286 Laboratory Procedure Ghrelin Measurement C3813179 CDISC A measurement of total ghrelin in a biological specimen. https://www.ncbi.nlm.nih.gov/pubmed/28288363 GHRELIN Ghrelin Ghrelin Measurement Growth Hormone Secretagogue Receptor Ligand Motilin-related Peptide Total Ghrelin Ghrelin Measurement true A question about whether an individual has or had a feeling of fullness or heaviness in the area of the stomach. C113191 Intellectual Product Have Feeling of Fullness or Heaviness in Stomach Area C3829801 Have Feeling of Fullness or Heaviness in Stomach Area I have a feeling of fullness or heaviness in my stomach area Have Feeling of Fullness or Heaviness in Stomach Area true 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. C114781 Disease or Syndrome Dialysis Disequilibrium Syndrome C0403559 NICHD 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. Dysequilibrium Syndrome Dialysis Disequilibrium Syndrome Disequilibrium Syndrome Dialysis Disequilibrium Syndrome https://www.epilepsy.com/learn/professionals/co-existing-disorders/renal-disorders/dialysis-disequilibrium-syndrome true A technique that monitors blood oxygen level dependent (BOLD) signals to map distant brain regions that work together while performing a task. C116454 Diagnostic Procedure Functional Connectivity Magnetic Resonance Imaging Functional Connectivity Magnetic Resonance Imaging CL471734 CTRP Functional Connectivity MRI Functional Connectivity Magnetic Resonance Imaging fcMRI Functional Connectivity Magnetic Resonance Imaging 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. C116487 Diagnostic Procedure Diffusion Kurtosis Imaging Diffusion Kurtosis Imaging CL433731 CTRP https://www.ncbi.nlm.nih.gov/pubmed/26255305 DKI Diffusion Kurtosis Imaging Diffusion Kurtosis Imaging true A collection of blood between the dura mater and the brain. C116585 Finding Subdural Hematoma C0018946 MedDRA NICHD A collection of blood into the space between the dura mater and the brain. Subdural Hematoma Subdural hematoma https://www.ncbi.nlm.nih.gov/pubmed/27914224 Subdural Hematoma Subdural Hematoma https://www.medpagetoday.com/resource-centers/contemporary-advances-epilepsy/determining-risk-seizures-patients-subdural-hematomas/2090 true true The use of electrodes placed directly on the exposed brain surface to record the electrical activity of the cerebral cortex. C116664 Diagnostic Procedure Electrocorticography Electrocorticography C0430797 CTRP https://www.ncbi.nlm.nih.gov/pubmed/25204010 ECoG Electrocorticography Noachter 1999 Electrocorticography ECoG Electrocorticography true true A condition characterized by recurrent, self-limiting episodes of vomiting associated with intense nausea, pallor, and lethargy. It is commonly a migraine precursor. C117014 Finding Cyclical Vomiting C0152164 MedDRA NICHD 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. Cyclical Vomiting Cyclic vomiting syndrome 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. Cyclical Vomiting Cyclical Vomiting true 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. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#cyc-vomiting Perception of a taste in the absence of a corresponding stimulus. C118177 Finding Gustatory Hallucination C0233766 MedDRA NICHD Perception of a taste in the absence of a corresponding stimulus. Gustatory Hallucination Hallucination gustatory Gustatory Hallucination Gustatory Hallucination true An alteration in visual perception that causes objects to appear smaller than their actual size. C118304 Finding Micropsia C0233769 MedDRA NICHD An alteration in visual perception that causes objects to appear smaller than their actual size. Micropsia Micropsia https://www.ncbi.nlm.nih.gov/pubmed/28116304 Micropsia Micropsia true An alteration in visual perception that causes objects to appear larger than their actual size. C118305 Finding Macropsia C0233771 MedDRA NICHD An alteration in visual perception that causes objects to appear larger than their actual size. Macropsia Macropsia Macropsia Macropsia http://www.case.edu/EpSO.owl#Macropsia https://www.epilepsy.com/connect/forums/living-epilepsy-adults/macropsia-things-feeling-larger-they-are true true Abnormal hypersynchronous electrical activity in the brain of a newborn which may be associated with stereotyped movements or autonomic changes. C118507 Finding Neonatal Seizure C0159020 NICHD Abnormal hypersynchronous electrical activity in the brain of a newborn infant which may be associated with stereotyped movements or autonomic changes. Neonatal Seizure https://www.ncbi.nlm.nih.gov/books/NBK2599/ Neonatal Seizure Neonatal Seizure https://emedicine.medscape.com/article/1177069-overview true true Perception of more than one image when viewing with one eye. C118719 Finding Monocular Diplopia C0271190 MedDRA NICHD Perception of more than one image when viewing with one eye. Monocular Diplopia Monocular diplopia https://www.ncbi.nlm.nih.gov/pubmed/31914330 Monocular Diplopia Monocular Diplopia true true 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. C120333 Intellectual Product Word Pairs Delayed C3897165 https://www.ncbi.nlm.nih.gov/pubmed/26874864 Word Pairs Delayed Word Pairs Delayed true true 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. C120342 Intellectual Product Logical Memory I Subtest (WMS-IV) C4027321 https://www.ncbi.nlm.nih.gov/pubmed/26874864 Logical Memory I Logical Memory I Subtest (WMS-IV) WMS-IV Logical Memory WMS-IV Logical Memory I Logical Memory I Subtest (WMS-IV) true Interventions and exercises intended to develop, recover, or maintain the ability of an individual to accomplish their activities of daily living. C121351 Therapeutic or Preventive Procedure Occupational Therapy Occupational Therapy C1318464 CTRP NICHD Interventions and exercises intended to develop, recover, or maintain the ability of an individual to accomplish their activities of daily living. Occupational Therapy https://www.ncbi.nlm.nih.gov/pubmed/23941480 OT Occupational Therapy Occupational Therapy https://www.epilepsy.com/learn/diagnosis/you-and-your-healthcare-team/rehabilitation-therapists true true 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. C121459 Intellectual Product Behavior Rating Inventory of Executive Function C4050216 https://www.ncbi.nlm.nih.gov/pubmed/31461681 BRIEF Behavior Rating Inventory of Executive Function Behavior Rating Inventory of Executive Function (BRIEF) Behavioral Rating Inventory of Executive Functions Behavior Rating Inventory of Executive Function true 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. C123667 Intellectual Product Montreal Cognitive Assessment Functional Test C3496286 CDISC 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). https://www.ncbi.nlm.nih.gov/pubmed/22258041 MOCA MOCA01 Montreal Cognitive Assessment Montreal Cognitive Assessment Functional Test Montreal Cognitive Assessment Functional Test true A form of non-invasive mechanical pressure support ventilation that uses a continuous positive airway pressure level to support spontaneous breathing activity. C124040 Therapeutic or Preventive Procedure Continuous Positive Airway Pressure Continuous Positive Airway Pressure C0199451 CTRP https://www.ncbi.nlm.nih.gov/pubmed/21849000 https://www.ncbi.nlm.nih.gov/pubmed/29991426 CPAP Continuous Positive Airway Pressure Continuous positive airway pressure (CPAP) Continuous Positive Airway Pressure true A group of malignant gliomas that includes anaplastic astrocytoma, anaplastic oligodendroglioma, anaplastic oligoastrocytoma, and anaplastic ependymoma. C127816 Neoplastic Process WHO Grade III Glioma WHO Grade III Glioma CL509578 CTRP Malignant Anaplastic Glioma WHO Grade III Glioma WHO Grade III Glioma http://www.case.edu/EpSO.owl#AnaplasticGlioma An examination of an individual to determine their health status prior to a surgical procedure and their suitability for the procedure. C139982 Research Activity Pre-operative Evaluation C1293091 NCCN https://www.ncbi.nlm.nih.gov/pubmed/27101469 Pre-operative Evaluation Preoperative Evaluation pre-surgical evaluation Pre-operative Evaluation true 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. C15186 Mental Process Biofeedback Biofeedback C0005491 CTRP Biofeedback https://www.ncbi.nlm.nih.gov/pubmed/30819542 Biofeedback biofeedback Biofeedback true Surgical removal of a lobe of an organ. C15272 Therapeutic or Preventive Procedure Lobectomy Lobectomy C0023928 CTRP Surgery to remove a whole lobe (section) of an organ (such as the lungs, liver, brain, or thyroid gland). Lobectomy Lobectomy Lobectomy lobectomy Lobectomy http://www.chp.edu/our-services/brain/neurosurgery/epilepsy-surgery/services/lobectomy true A method of treating disease, esp. psychic disorders, by mental rather than pharmacological means (e.g., suggestion, re-education, hypnotism, and psychoanalysis). (Taber's) C15308 Therapeutic or Preventive Procedure Psychotherapy Psychotherapy C0033968 CTRP Treatment of mental, emotional, personality, and behavioral disorders using methods such as discussion, listening, and counseling. Psychotherapy Psychotherapy psychotherapy talk therapy Psychotherapy Restoration of the ability to function in a normal or near normal manner following disease, illness, or injury. C15315 Therapeutic or Preventive Procedure Rehabilitation Rehabilitation C0034991 CTRP 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. Rehabilitation Physical Health Services / Rehabilitation Rehabilitation Rehabilitation, Medical rehabilitation rehabilitation therapy Rehabilitation true 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) C15359 Therapeutic or Preventive Procedure Salvage Therapy Salvage Therapy C0085405 CDISC CPTAC CTRP 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. Treatment that is given after the cancer has not responded to other treatments. Salvage_Therapy SALVAGE Salvage Salvage Therapy salvage therapy Rescue treatments Salvage Therapy https://www.epilepsy.com/learn/managing-your-epilepsy/using-rescue-treatments true Therapeutic use of hypnotism by a clinical professional. C15420 Mental Process Hypnotherapy Hypnotherapy C0020587 CPTAC CTRP Hypnotherapy Clinical Hypnosis Hypnosis Hypnotherapy Hypnotherapy https://hypnosementor.nl/en/the-use-of-hypnosis-with-epilepsy/ true The determination of the amount of gamma-aminobutyric acid present in a sample. C154766 Laboratory Procedure Gamma-Aminobutyric Acid Measurement CL555601 CDISC A measurement of the gamma-aminobutyric acid in a biological specimen. https://www.ncbi.nlm.nih.gov/pubmed/20345933 GABA GAMBTAC Gamma-Aminobutyric Acid Gamma-Aminobutyric Acid Measurement Gamma-aminobutyrate γ-aminobutyric acid (GABA) levels Gamma-Aminobutyric Acid Measurement true 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. C15747 Therapeutic or Preventive Procedure Supportive Care Supportive Care C0344211 CDISC CTRP Any action or process to maximize comfort, minimize side effects, or mitigate against a decline in the participant's health or function. (clinicaltrials.gov) Supportive_Care Supportive Care Supportive Therapy Symptom Management Therapy, Supportive supportive care Supportive Care C157609 Finding Complication due to Medical/Surgical Care CL937198 CPTAC https://www.ncbi.nlm.nih.gov/pubmed/24861650 Complication due to Medical/Surgical Care complications of epilepsy surgery Complication due to Medical/Surgical Care true Treatment of disease through the use of drugs. C15986 Therapeutic or Preventive Procedure Pharmacotherapy C0013216 CPTAC NICHD Treatment with any substance, other than food, that is used to prevent, diagnose, treat, or relieve symptoms of a disease or abnormal condition. Pharmacological_Treatment Drug Therapy Pharmaceutical Therapy, NOS https://www.ncbi.nlm.nih.gov/pubmed/29140112 Drug Therapy Pharmaceutical Therapy Pharmacological Treatment Pharmacological Treatments Pharmacotherapy Treatment With Medication drug therapy Pharmacotherapy true 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. C16033 Health Care Activity Follow-Up C1522577 CDISC 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. The process by which information about the health status of a subject is obtained after the subject is no longer receiving study medication. Follow-up https://www.ncbi.nlm.nih.gov/pubmed/27091679 Active Follow-up CLSFUP Clinical Signs Follow-up Follow Up Follow-Up Follow-up Followup follow-up Follow-Up true 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. C160587 Mental or Behavioral Dysfunction Executive Function Disorder Executive Function Disorder CTRP https://www.ncbi.nlm.nih.gov/pubmed/30909075 EFD Executive Dysfunction Executive Function Disorder Executive Functioning Deficit Impairment of Executive Functions Executive Function Disorder true A categorization of surgical procedures by type or purpose. C161601 Health Care Activity Surgical Procedure by Type Surgical Procedure by Type Surgical Procedure by Type 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. C162646 Diagnostic Procedure 7 Tesla Magnetic Resonance Imaging 7 Tesla Magnetic Resonance Imaging CTRP https://www.ncbi.nlm.nih.gov/pubmed/28324301 7 Tesla (7 T) MRI 7 Tesla MRI 7 Tesla Magnetic Resonance Imaging 7T MRI 7 Tesla Magnetic Resonance Imaging true An individual's weight in kilograms divided by the square of the height in meters. C16358 Clinical Attribute Body Mass Index C1305855 CDISC CPTAC NCPDP A general indicator of the body fat an individual is carrying based upon the ratio of weight to height. (NCI) 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. Body_Mass_Index BMI Body Mass Index Quetelet Index body mass index Body Mass Index true The cause of a disease or abnormal condition. C16390 Conceptual Entity Etiology C1314792 The cause or origin of disease. Etiology 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. Causation Cause Etiology etiology Epilepsy etiologies Etiology true 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. https://www.epilepsydiagnosis.org/aetiology/epilepsies-etiology-groupoverview.html 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. C16811 Diagnostic Procedure Magnetoencephalography Magnetoencephalography C0024489 CTRP Magnetoencephalography https://www.ncbi.nlm.nih.gov/pubmed/15281961 MEG Magnetoencephalography Magnetoencephalography true true true A representation of something, often idealized or modified to make it conceptually easier to understand. C16866 Intellectual Product Model C3161035 CDISC-GLOSS 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] Model_System Model Model System Modeling System Models model Model 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. C17103 Clinical Attribute Risk Factor C0035648 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. Risk_Factor Risk Factor risk factor Risk Factor 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. C17204 Diagnostic Procedure Computed Tomography Computed Tomography C0040405 CDISC CTRP FDA A series of detailed pictures of areas inside the body; the pictures are created by a computer linked to an x-ray machine. 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. Computed_Tomography https://www.ncbi.nlm.nih.gov/pubmed/?term=8215194 CAT CAT Scan CAT scan CT CT SCAN CT scan Computed Tomography Computerized Axial Tomography Computerized Tomography computed tomography computerized axial tomography computerized tomography tomography Computed Tomography true 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. C17429 Intellectual Product Neural Network C0870951 Neural_Network Neural Network Neural Networks (Computer) Neural Network C17456 Intellectual Product Experimental Model C0086272 Experimental_Model Experimental Model Experimental Models, Other Experimental Model Surgery that does not alter the course of a disease, but improves the quality of life. C17883 Therapeutic or Preventive Procedure Palliative Surgery Palliative Surgery C0282282 CTRP Palliative_Surgery https://www.ncbi.nlm.nih.gov/pubmed/23250841 Palliative Surgery Palliative Surgery true Any procedure or test to diagnose a disease or disorder. C18020 Diagnostic Procedure Diagnostic Procedure Diagnostic Procedure C0430022 CTRP NICHD A specific test or series of steps done to help diagnose a disease or condition. Mammograms and colonscopies are examples of diagnostic procedures. Diagnostic_Procedure Diagnostic Procedure Other diagnostic procedures on breast Other diagnostic procedures on rectum, rectosigmoid and perirectal tissue Diagnostic Method Diagnostic Procedure Diagnostic Technique Diagnostic Test diagnostic procedure diagnostic technique Diagnostic Procedure Techniques for analysis of chromosomal and subchromosomal properties and structures, such as those to diagnose, classify, screen for, or manage genetic diseases and abnormalities. C18280 Laboratory Procedure Cytogenetic Analysis Cytogenetic Analysis C0752095 CDISC CPTAC CTRP The determination of the holistic or specific regional aberrations in a chromosome (insertions, deletions, amplifications, translocations). Cytogenetic_Analysis Cytogenetics, NOS https://www.ncbi.nlm.nih.gov/pubmed/21269290 CHROMAB Chromosomal Aberration Cytogenetic Analysis Cytogenetic Techniques Cytogenetic studies Cytogenetic Analysis true 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. C18772 Clinical Attribute Personal Medical History C0262926 CPTAC NICHD 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. Personal_Medical_History Personal Medical History General Medical History History Medical History PMH Past Medical History Personal History Personal Medical History personal health record personal history personal medical history Personal Medical History true A rodent disease whose pathologic mechanisms are sufficiently similar to those of a human disease to serve as a model. C19021 Experimental Model of Disease Rodent Model of Disease C1519106 Rodent_Model https://www.ncbi.nlm.nih.gov/pubmed/22938964 Rodent Model of Disease Rodent Model of Disease true C19146 Research Activity In Vitro Model C1515654 in_vitro_Model https://www.ncbi.nlm.nih.gov/pubmed/30086482 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 Vitro Model In Vitro Model true 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. https://mpkb.org/home/patients/assessing_literature/in_vitro_studies C19148 Research Activity In Vivo Model C1515657 in_vivo_Model https://www.ncbi.nlm.nih.gov/pubmed/30086482 In vivo (Latin for “within the living”) refers to experimentation using a whole, living organism as opposed to a partial or dead organism. In Vivo Model In Vivo Model true In vivo (Latin for “within the living”) refers to experimentation using a whole, living organism as opposed to a partial or dead organism. https://mpkb.org/home/patients/assessing_literature/in_vitro_studies 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. C19272 Experimental Model of Disease Transgenic Model C1519606 Transgenic_Model https://www.ncbi.nlm.nih.gov/pubmed/20492865 Transgenic Model Transgenic Model true Research animal models that do not include mice, rats, etc, but that might include non-human primates, cats, dogs, and others. C19300 Experimental Model of Disease Non-Rodent Model C1518385 Non-Rodent_Model https://www.ncbi.nlm.nih.gov/pubmed/22938964 Non-Rodent Model Non-Rodent Model true The distinguishing qualities or prominent aspects of an individual person. C19332 Organism Attribute Personal Attribute C0681884 Personal_Attribute Personal Personal Attribute Subject Characteristics Personal Attribute 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. C19770 Laboratory Procedure Molecular Analysis C1513380 Molecular_Analysis Molecular Analysis Molecular Genetic Analysis Molecular Genetic Procedure Molecular Procedure Molecular Analysis The X-ray examination of the blood vessels or chambers of the heart. C20080 Diagnostic Procedure Angiography Angiography CL378222 CDISC CTRP A method used to create an image of blood vessels. 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. Angiography ANGIOGRAPHY Angiography angiography Angiography http://epilepsyontario.org/wada-test/ true Any one of several evaluation/assessment tools used to ascertain a patient's condition or diagnosis. C20993 Intellectual Product Research or Clinical Assessment Tool C1516602 NICHD Clinical_Assessment_Tool Clinical Assessment Tool Clinical Assessment Tool Clinical or Research Assessment Tool Research or Clinical Assessment Tool Research or Clinical Assessment Tool 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) C21024 Therapeutic or Preventive Procedure Deep Brain Stimulation C0394162 CPTAC Deep_Brain_Stimulation https://www.ncbi.nlm.nih.gov/pubmed/30030085 DBS Deep Brain Stimulation Deep Brain Stimulation Therapy Deep Brain Stimulation true The vertical measurement or distance from the base to the top of an object; the vertical dimension of extension. C25347 Quantitative Concept Height C0489786 CDISC FDA NCPDP The vertical measurement or distance from the base to the top of an object; the vertical dimension of extension. (NCI) Vertical measurement value. Height https://www.ncbi.nlm.nih.gov/pubmed/28384785 HEIGHT Height Height at Time of Procedure Height true Something that happens at a given place and time. C25499 Event Event C0441471 Event Event Event A functional and/or structural disorder of the brain caused by diseases (e.g. liver disease, kidney disease), medications, chemicals, and injuries. C26920 Disease or Syndrome Encephalopathy C0085584 Patient Code (Appendix B) CTCAE FDA MedDRA NICHD A disorder characterized by a pathologic process involving the brain. A disorder of the brain that can be caused by disease, injury, drugs, or chemicals. Diffuse disease of the brain that alters function and/or structure of the brain and is characterized by an altered mental state. Encephalopathy Encephalopathy Encephalopathy Encephalopathy encephalopathy Encephalopathy Any disease or disorder that occurs during the course of, or because of, another disease, treatment, or procedure. C2959 Finding Complication C0009566 NICHD 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. Complication Complication Complication Medical Complication complication Complication A traumatic injury to the head. C34660 Finding Head Injury C0018674 Patient Code (Appendix B) FDA NICHD Head_Injury Head Injury Head Injury Injury of Head Injury, Head Head Injury true A psychological state of emotional lability characterized by irrational behavior. This is a colloquial term that is not commonly used in clinical medicine. C34721 Sign or Symptom Hysteria C0020701 Hysteria https://www.ncbi.nlm.nih.gov/books/NBK1169/#adnfle.Clinical_Characteristics Hysteria Hysteria true 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. C34739 Finding Jacksonian Seizure C0022333 Jacksonian_Seizure Jacksonian Seizure Jacksonian Seizure https://www.epilepsy.com/article/2013/6/do-you-know-what-jacksonian-march true The visual perception of an image that differs from the reality of the image. C34865 Disease or Syndrome Optical Illusion C0029139 Optical_Illusion Optical Illusion Visual Illusion Optical Illusion https://eyewiki.aao.org/Ophthalmologic_Manifestations_of_Epilepsy true true A specific behavioral problem that occurs in persistent patterns and characteristic clusters and that causes clinically significant impairment. C35470 Mental or Behavioral Dysfunction Behavioral Disorder C0481391 CPTAC NICHD Behavior-Related_Disorder Behavioral Disorder Seeking and accepting physical, nutritional and chemical interventions known to be hazardous and harmful https://www.ncbi.nlm.nih.gov/pubmed/27210239 Behavior-Related Disorder Behavior-Related Problem Behavioral Disorder Behaviour-Related Disorder Lifestyle-Related Condition Lifestyle-Related Disorder Lifestyle-Related Problem Behavioral, psychological and psychiatric disorders Behavioral Disorder https://www.epilepsydiagnosis.org/epilepsy-imitators.html#behavioral true true 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. C36327 Cell or Molecular Dysfunction Gene Abnormality C1517478 Gene_Abnormality 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. Gene Abnormality Genetic Mutation Gene Abnormality http://www.case.edu/EpSO.owl#GeneticMutation true 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. https://www.epilepsydiagnosis.org/aetiology/gene-abnormalities-overview.html Surgery which cures disease. C38047 Therapeutic or Preventive Procedure Curative Surgery C1511562 Curative_Surgery https://www.ncbi.nlm.nih.gov/pubmed/16380232 Curative Surgery Curative Surgery true 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. C40438 Intellectual Product Beck Depression Inventory C0451022 Beck_Depression_Inventory https://www.ncbi.nlm.nih.gov/pubmed/29111504 Beck Depression Inventory Beck Depression Inventory true Graphic representation and categorization of the electrical vectors produced by the depolarization and repolarization of myocardial tissue. C41328 Finding Electrocardiographic Finding C0438154 Electrocardiographic_Finding ECG Finding Electrocardiographic Finding Electrocardiographic Findings Electrocardiographic Finding Infection of a break in the skin or other tissue. C45234 Disease or Syndrome Wound Infection C0043241 MedDRA NICHD A disorder characterized by an infectious process involving the wound. Infection of a break in the skin or other tissue due to injury. Wound_Infection Wound Infection Wound infection https://www.ncbi.nlm.nih.gov/pubmed/29624147 Wound Infection Wound infection Wound Infection true A conductor that is designed to make contact with part of a circuit or system. C49936 Manufactured Object Electrode Device C0013812 FDA 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. 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. Electrode_Device_Component IMDRF:G021501 Electrode Electrode Device electrode Electrode Device A dose of medicine that was not taken at the prescribed dosing interval. C50429 Functional Concept Missed Dose C1709043 Patient Code (Appendix B) FDA Missed_Dose Dose, Missed Missed Dose Missed Dose https://www.epilepsy.com/learn/triggers-seizures/missed-medicines true A state of general hypoxia and hypercapnea, resulting in acidosis, which affects all tissues in the body. C50465 Finding Asphyxia C0004044 Patient Code (Appendix B) FDA MedDRA NICHD A condition due to lack of oxygen in respired air, resulting in impending or actual cessation of life. A state of hypoxia and hypercapnea, resulting in acidosis, which affects all tissues in the body. Asphyxia Asphyxia Asphyxia https://www.ncbi.nlm.nih.gov/pubmed/29382476 Asphyxia Asphyxia true A severe, often fatal encephalopathy which has been attributed to accumulation in the brain of aluminum from dialysate prepared with inadequately purified water. C50531 Disease or Syndrome Dialysis Encephalopathy C0221040 Patient Code (Appendix B) FDA A severe, often fatal encephalopathy which has been attributed to accumulation in the brain of aluminum from dialysate prepared with inadequately purified water. Dialysis_Encephalopathy Dementia, Dialysis Dialysis Dementia Dialysis Encephalopathy Progressive Dialysis Encephalopathy Dialysis Encephalopathy https://www.epilepsy.com/learn/professionals/co-existing-disorders/renal-disorders/dialysis-encephalopathy-syndrome true A sudden movement downward, usually resulting in injury. C50558 Phenomenon or Process Fall C0085639 Patient Code (Appendix B) CPTAC CTCAE FDA MedDRA NICHD A finding of sudden movement downward, usually resulting in injury. An event which results in an individual coming to rest inadvertently on the ground or lower object. (WHO) Fall Fall Fall Fall Fall https://www.epilepsy.com/learn/age-groups/seniors-and-epilepsy/falls-during-seizures true true An objective visual sensation that appears with the eyes closed and in the absence of visual light. C50697 Finding Phosphene Visualization C1709528 Patient Code (Appendix B) FDA An objective visual sensation that appears with the eyes closed and in the absence of visual light. Phosphene_Visualization https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2757123/ Phosphene Visualization Visualization, Phosphene Phosphene Visualization true true 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. C50726 Finding Regurgitation C2004489 Patient Code (Appendix B) FDA NICHD 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. Regurgitation Regurgitation https://www.ncbi.nlm.nih.gov/pubmed/28139515 Regurgitation Regurgitation true An interconnected system of things or people. C61377 Conceptual Entity Network C1882071 Network Network Network C63479 Laboratory Procedure Gene Expression Analysis Gene Expression Analysis C1880945 CTRP Gene_Expression_Analysis https://www.ncbi.nlm.nih.gov/pubmed/19243383 https://www.ncbi.nlm.nih.gov/pubmed/29722352 Gene expression analysis is the study of gene products by imaging, amplification, probe hybridization or sequencing-based detection methods. Gene Expression Analysis Gene Expression Analysis true Gene expression analysis is the study of gene products by imaging, amplification, probe hybridization or sequencing-based detection methods. https://www.nature.com/subjects/gene-expression-analysis 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. C64345 Therapeutic or Preventive Procedure Cognitive Behavior Therapy Cognitive Behavior Therapy C0009244 CTRP 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. Cognitive_Behavior_Therapy https://www.ncbi.nlm.nih.gov/pubmed/28382495 CBT CT Cognitive Behavior Therapy cognitive behavior therapy cognitive therapy Cognitive and Behavioral Interventions Cognitive Behavior Therapy true 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. C64862 Diagnostic Procedure Diffusion Tensor Imaging Diffusion Tensor Imaging C1537007 CDISC CTRP A type of MRI technique that maps the diffusion of water in three dimensions. Diffusion_Tensor_Imaging https://www.ncbi.nlm.nih.gov/pubmed/26255305 DIFFUSION TENSOR MRI DT-MRI DTI Diffusion Tensor Imaging Diffusion Tensor Imaging true C65017 Therapeutic or Preventive Procedure Nutritional Therapy C2937349 CPTAC 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. Nutritional_Therapy Medical Nutrition Therapy Nutritional Therapy medical nutrition therapy nutrition therapy Nutritional Therapy https://www.epilepsy.com/living-epilepsy/healthy-living/healthy-eating/nutrition-and-seizure-control true A thermal ablation therapy in which neoplasms are heated with prolonged and moderate temperature elevations. It results in coagulative necrosis in the heated tissue. C68680 Therapeutic or Preventive Procedure Laser Interstitial Thermal Therapy Laser Interstitial Thermal Therapy CL374463 CTRP Laser_Interstitial_Thermal_Therapy https://www.ncbi.nlm.nih.gov/pubmed/30591281 LITT Laser Interstitial Thermal Therapy Laser Interstitial Thermal Therapy true Diverse, mixed, consisting of an assortment of different kinds. C69023 Qualitative Concept Miscellaneous C0205395 Miscellaneous Misc Miscellaneous Miscellaneous events Miscellaneous https://www.epilepsydiagnosis.org/epilepsy-imitators.html#misc true 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. C71164 Research Activity Animal Model C0599779 Animal_Model_Generic https://www.ncbi.nlm.nih.gov/pubmed/22938964 Animal Model Animal Model, Generic Research Model, Animal Animal Model true Injury to the brain of a newborn infant occurring around the time of birth. C73501 Finding Perinatal Brain Injury C2347482 Patient Code (Appendix B) FDA NICHD Injury occurring as a result of the delivery process. Injury to the brain of a newborn infant occurring around the time of birth. Brain injury, fetal Injury, fetal brain Perinatal_Brain_Injury Perinatal Brain Injury Perinatal Brain Injury Perinatal Brain Injury https://www.epilepsy.com/learn/about-epilepsy-basics/what-are-risk-factors true The determination of the amount of glutamate present in a sample. C74739 Laboratory Procedure Glutamate Measurement C0523665 CDISC A measurement of the glutamate in a biological specimen. Glutamate_Measurement https://www.ncbi.nlm.nih.gov/pubmed/21909104 GLUTAM Glutamate Glutamate Measurement Glutamic Acid glutamate levels Glutamate Measurement true The determination of the amount of hormone present in a sample. C74742 Laboratory Procedure Hormone Measurement C0441683 NICHD Hormone_Measurement Hormone Measurement Hormone Measurement Hormone Measurement The determination of the amount of acetylcholine hormone present in a sample. C74838 Laboratory Procedure Acetylcholine Measurement C0523441 A measurement of the acetylcholine hormone in a biological specimen. Acetylcholine_Measurement https://www.ncbi.nlm.nih.gov/pubmed/25819950 ACH Acetylcholine Acetylcholine Measurement Acetylcholine Measurement true Systems designed to elucidate facts about complex biological phenomena, usually in a less complex or theoretical test environment. C80519 Intellectual Product Biological Model C0026339 Biological_Model Biological Model Biological Models Model Model System Biological Model Past events that occurred between individuals and/or their communities. C81292 Clinical Attribute Social History C0424945 NICHD Social_History Social History Social History Social History true The weight of a subject. C81328 Conceptual Entity Body Weight C0005910 CDISC NCPDP NICHD The weight of a subject. (NCI) Weight_of_Body Body Weight https://www.ncbi.nlm.nih.gov/pubmed/25487080 BW Body Weight Body Weight true A group of neural cortical developmental malformations of diverse genetic causes. Clinical manifestations include epilepsy and developmental delays. C84834 Congenital Abnormality Malformations of Cortical Development C1955869 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. Malformations of Cortical Development Malformations of Cortical Development true 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. https://www.epilepsydiagnosis.org/aetiology/malform-cortical-dev-overview.html A parasitic infection with tapeworms of the genus Taenia affecting the brain. It is manifested with seizures and headaches. C84932 Disease or Syndrome Neurocysticercosis C0338437 NICHD 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. Neurocysticercosis 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. Neurocysticercosis Neurocysticercosis true Neurocysticercosis is caused by ingestion of food contaminated with Taenia solium eggs. Eggs hatch in the intestine, larvae migrate to the central nervous system and then form cysts. Cysts have four phases: 1) vesicular (asymptomatic); 2) colloidal (degeneration and inflammation); 3) granular nodular; and 4) calcification. Although seizures are most often associated with cyst degeneration, they can occur at any stage. 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. https://www.epilepsydiagnosis.org/aetiology/infectious-groupoverview.html 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. C84973 Finding Orthostatic Intolerance C1535893 https://www.ncbi.nlm.nih.gov/pubmed/18777476 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. Orthostatic Intolerance Orthostatic Intolerance true true 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. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#orthostatic An ability to understand the meaning or importance of something (or the knowledge acquired as a result). C86022 Mental Process Comprehension C0162340 https://www.ncbi.nlm.nih.gov/pubmed/28858722 Comprehension Understanding Comprehension true true An emotion associated with feeling good. C86580 Mental Process Pleasure C0679105 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4804666/ Pleasure Pleasure true true Failing to produce an effect from some foregoing stimulus or agent. C86933 Conceptual Entity Unresponsive C0237284 Not Responsive Unresponsive Unresponsive true 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. C86974 Intellectual Product Wechsler Preschool and Primary Scale of Intelligence C2828074 https://www.ncbi.nlm.nih.gov/pubmed/31461681 WPPSI Wechsler Preschool and Primary Scale of Intelligence Wechsler intelligence scale for preschool children version IV) Wechsler Preschool and Primary Scale of Intelligence true A change from the normal breathing pattern in an infant, child, or adult, in terms of the amplitude and frequency of inhalations and exhalations. C87089 Sign or Symptom Irregular Respiration C0425492 NICHD Irregular Respiration Irregular Breathing Irregular Respiration Irregular Respiration true An instrument consisting of a predetermined set of questions for a clinical or research assessment. C91105 Intellectual Product Clinical or Research Assessment Questionnaire C2984042 Clinical or Research Assessment Questionnaire Clinical or Research Assessment Questionnaire 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. C93013 Diagnostic Procedure 3 Tesla Magnetic Resonance Imaging 3 Tesla Magnetic Resonance Imaging CL412383 CTRP 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. https://www.ncbi.nlm.nih.gov/pubmed/28324301 3 Tesla (3 T) MRI 3 Tesla MRI 3 Tesla Magnetic Resonance Imaging 3 Tesla magnetic resonance imaging 3T MRI 3 Tesla Magnetic Resonance Imaging true C94198 Medical Device Cardiac Pacemaker C0030163 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. https://www.ncbi.nlm.nih.gov/pubmed/26293325 Cardiac Pacemaker artificial pacemaker cardiac pacemaker pacemaker Cardiac Pacemaker true Epilepsy that is refractory to treatment. C9487 Disease or Syndrome Intractable Epilepsy C1096063 Intractable_Epilepsy Intractable Epilepsy refractory epilepsy Intractable Epilepsy 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) C9505 Neoplastic Process Dysembryoplastic Neuroepithelial Tumor C1266177 9413/0 Undetermined Dysembryoplastic_Neuroepithelial_Tumor 9413/0 Dysembryoplastic neuroepithelial tumor 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. DNET DNT Dysembryoplastic Neuroepithelial Neoplasm Dysembryoplastic Neuroepithelial Tumor Dysembryoplastic Neuroepithelial Tumor true 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. https://www.epilepsydiagnosis.org/aetiology/dnet-overview.html 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. C98909 Finding Cyanotic Attacks in Children C3274490 https://www.ncbi.nlm.nih.gov/books/NBK2609/ Breath-holding attacks Cyanotic Attacks in Children cyanotic breath-holding attacks Cyanotic Attacks in Children https://www.epilepsydiagnosis.org/epilepsy-imitators.html#breath-holding true true A congenital or acquired cystic cavity within the cerebral hemisphere. C99020 Finding Porencephalic Cyst C4082172 NICHD Cystic area of encephalomalacia that is the end result of a destructive process such as intraparenchymal hemorrhage, infection or trauma. Porencephalic Cyst 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. Porencephalic Cyst Porencephalic Cyst true 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. https://www.epilepsydiagnosis.org/aetiology/porencephalic-cyst-overview.html 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. 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'. 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. 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. 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. 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. 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. 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'. Yongqun He AE adverse reaction WEB: http://en.wikipedia.org/wiki/Adverse_event WEB: http://www.fda.gov/Safety/MedWatch/HowToReport/ucm053087.htm WEB: http://www.ncbi.nlm.nih.gov/pubmed/25093068 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5946606/ The OAE official website is: http://www.oae-ontology.org/. adverse event true medical intervention is a planned process that has the goal of diagnosing, preventing or relieving illness or injury. 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. YH WEB: http://wiki.answers.com/Q/What_is_medical_intervention medical intervention coagulopathy AE results in the impairment of blood to clot causing ecessive or prolonged bleeding. SJ, YH bleeding disorder clotting disorder WEB: http://en.wikipedia.org/wiki/Coagulopathy 10009802 https://www.ncbi.nlm.nih.gov/pubmed/22693291 Coagulopathy Hemorrhage coagulopathy AE http://www.case.edu/EpSO.owl#CoagulopathyHemorrhage true an adverse event that occurs in brain. YH brain disorder AE brain AE 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. SJ, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/001421.htm 10006126 https://www.ncbi.nlm.nih.gov/pubmed/25260205 Idiopathic Brain Herniation brain herniation AE true a brain injury AE,  injury to the brain caused by an external force, that results in a brain AE SJ, YH Traumatic Brain Injury WEB: http://www.biausa.org/FAQRetrieve.aspx?ID=43913 10067967 brain injury AE http://www.case.edu/EpSO.owl#TraumaticBrainInjury https://www.epilepsydiagnosis.org/aetiology/traumatic-brain-injury-overview.html true 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. JX, LW WEB: http://en.wikipedia.org/wiki/Acupuncture 10000646 https://www.ncbi.nlm.nih.gov/pubmed/29888583 acupuncture therapy acupuncture true The amount of a neurotransmitter. https://www.ncbi.nlm.nih.gov/pubmed/25819950 amount of neurotransmitter oba OBA:0000116 neurotransmitter levels true The amount of a ammonia when measured in blood. https://www.ncbi.nlm.nih.gov/pubmed/28288363 blood ammonia amount blood ammonia amount true planned process Injecting mice with a vaccine in order to test its efficacy A processual entity that realizes a plan which is the concretization of a plan specification. '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.) 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. Bjoern Peters branch derived 6/11/9: Edited at workshop. Used to include: is initiated by an agent 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) planned process processed material Examples include gel matrices, filter paper, parafilm and buffer solutions, mass spectrometer, tissue samples Is a material entity that is created or changed during material processing. PERSON: Alan Ruttenberg processed material assay Assay the wavelength of light emitted by excited Neon atoms. Count of geese flying over a house. A planned process with the objective to produce information about some evaluant A planned process with the objective to produce information about the material entity that is the evaluant, by physically examining it or its proxies. 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. PlanAndPlannedProcess Branch measuring scientific observation OBI branch derived study assay any method assay material processing A cell lysis, production of a cloning vector, creating a buffer. A planned process which results in physical changes in a specified input material PERSON: Bjoern Peters PERSON: Frank Gibson PERSON: Jennifer Fostel PERSON: Melanie Courtot PERSON: Philippe Rocca Serra material transformation OBI branch derived material processing extracellular electrophysiology recording assay 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 An electrophysiology recording assay where the recording location of the electrode is extracellular Frank Gibson Helen Parkinson Frank Gibson extracellular electrophysiology recording assay DNA sequencing 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 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. Philippe Rocca-Serra OBI Branch derived DNA sequencing device A voltmeter is a measurement device which is intended to perform some measure function. An autoclave is a device that sterlizes instruments or contaminated waste by applying high temperature and pressure. A material entity that is designed to perform a function in a scientific investigation, but is not a reagent. 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 role is not transitive across the part_of relation). In this way, the asserted disjointness between a reagent and device holds, as both roles are never realized in the same bearer during execution of an assay. PERSON: Helen Parkinson instrument OBI development call 2012-12-17. device assay array 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. PERSON: Chris Stoeckert, Jie Zheng, Alan Ruttenberg Penn Group assay array electroencephalography 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. Gully Burns EEG electroencephalography true true microarray 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. 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. Daniel Schober PERSON: Chris Stoeckert https://www.ncbi.nlm.nih.gov/pubmed/26033084 microarray true allergy 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 IEDB IEDB https://www.ncbi.nlm.nih.gov/pubmed/20161538 Allergies allergy true A representation that is either the output of a clinical history taking or a physical examination or an image finding, or some combination thereof. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2010-07-19T10:18:02Z clinical finding A series of statements representing health-relevant qualities of a patient and of a patient's family. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2010-07-19T10:18:59Z https://www.ncbi.nlm.nih.gov/pubmed/28190753 clinical history true true 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. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T10:21:58Z laboratory finding 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. note: defined class Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2010-11-18T11:14:36Z sign A physical sign in which a non-zero value is standardly considered to be an indication that the organism is alive. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T11:19:17Z vital sign true Albert Goldfain creation date: 2009-06-23T11:22:01Z 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. homeostasis 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. https://www.ncbi.nlm.nih.gov/pubmed/26389962 Homeostasis that is clinically abnormal for an organism of a given type and age in a given environment. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T11:26:44Z abnormal homeostasis A material entity which is clinically abnormal and part of an extended organism. Disorders are the physical basis of disease. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T11:39:44Z disorder A sequence of acts of observing and measuring qualities of a patient performed by a clinician; measurements may occur with and without elicitation. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2010-07-19T11:50:18Z physical examination true A process in which at least one bodily component of an organsim participates. Albert Goldfain http://www.jbiomedsem.com/content/1/1/10 creation date: 2009-06-23T11:53:49Z From OGMS: http://purl.obolibrary.org/obo/OGMS_0000060 bodily process A bodily process that is clinically abnormal. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T11:54:29Z pathological bodily process The representation of a conclusion of a diagnostic process. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T12:42:23Z diagnosis http://www.case.edu/EpSO.owl#Diagnosis https://www.epilepsy.com/learn/diagnosing-epilepsy true TODO: Define. Albert Goldfain http://code.google.com/p/ogms/issues/detail?id=26 creation date: 2009-11-24T04:51:11Z https://www.ncbi.nlm.nih.gov/books/NBK361/ The information regarding anatomic findings obtained through the use of observation, palpation, percussion, and auscultation. physical examination finding Modified definition true 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 Albert Goldfain http://code.google.com/p/ogms/issues/detail?id=35 creation date: 2010-03-31T04:51:11Z Treatment of epilepsy treatment true 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 Albert Goldfain Sagar Jain http://groups.google.com/group/ogms-discuss/browse_thread/thread/a2dbc2ed1dff99d6 creation date: 2011-02-21T09:57:44Z editor date: 2017-04-18 health care process A disorder that involves some structural damage that is immediately caused by a catastrophic external force. 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. Albert Goldfain Sagar Jain 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 creation date: 2011-09-20T09:57:44Z edited date: 30 SEPT 2015 injury https://www.epilepsy.com/learn/about-epilepsy-basics/what-are-risk-factors true 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. creation: 16MAY2017 health care process assay 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. Creation data: 2018-11-27 therapeutic procedure A therapeutic procedure that uses immune system derived entities. creation date: 2018-11-27 Immunotherapy immunotherapy procedure https://www.medscape.com/answers/1184846-153550/what-is-the-role-of-immunotherapy-in-the-treatment-of-epileptic-seizures true a therapeutic procedure that uses physical conditioning creation date: 2018-11-27 Physical Therapy physical therapy procedure https://www.epilepsy.com/learn/diagnosis/you-and-your-healthcare-team/rehabilitation-therapists true a data item that is about a patient and is the specified output of a health care process assay or diagnostic process creation date: 2018-11-27 clinical data item A diagnosis that is the outcome of a diagnostic process targeting a second or additional health problem. Alice Nzinga Mathias Brochhausen secondary infection, nosocomial infection amended from http://en.wikipedia.org/wiki/Comorbidity It is argued that Comorbidity occurs due to a disposition established by a prior infection with a pathogenic organism of a different kind. comorbidity true mastectomy / craniotomy / liver resection e.t.c. 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. http://en.wikipedia.org/wiki/Surgery Surgical intervention https://www.ncbi.nlm.nih.gov/pubmed/29107258 surgical procedure true https://www.ncbi.nlm.nih.gov/pubmed/28951736 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. Alpha Rhythm http://www.case.edu/EpSO.owl#AlphaRhythm https://emedicine.medscape.com/article/1139332-overview#a1 true 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. https://www.ncbi.nlm.nih.gov/mesh/D000513 A treatment that suppresses undesirable behavior by simultaneously exposing the subject to unpleasant consequences. Aversive Therapy true A treatment that suppresses undesirable behavior by simultaneously exposing the subject to unpleasant consequences. https://www.ncbi.nlm.nih.gov/mesh/68001348 https://www.ncbi.nlm.nih.gov/pubmed/28951736 Brain waves with frequency between 15-30 Hz seen on EEG during wakefulness and mental activity. Beta Activity Beta Rhythm http://www.case.edu/EpSO.owl#BetaActivity true Brain waves with frequency between 15-30 Hz seen on EEG during wakefulness and mental activity. https://www.ncbi.nlm.nih.gov/mesh/D001611 https://www.ncbi.nlm.nih.gov/pubmed/28951736 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. Delta Rhythm http://www.case.edu/EpSO.owl#DeltaRhythm https://emedicine.medscape.com/article/1139332-overview#a1 true 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. https://www.ncbi.nlm.nih.gov/mesh/D003700 https://www.ncbi.nlm.nih.gov/pubmed/23515147 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). Diet Therapy true 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). https://www.ncbi.nlm.nih.gov/mesh/68004035 The consumption of edible substances. Eating https://n.neurology.org/content/86/16_Supplement/P6.367 true true The consumption of edible substances. https://www.ncbi.nlm.nih.gov/mesh/68004435 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. Eidetic Imagery true 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. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#eidetic 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. Exercise Therapy https://www.betterhealth.vic.gov.au/health/ConditionsAndTreatments/epilepsy-and-exercise true 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. https://www.ncbi.nlm.nih.gov/mesh/D005081 Emergency care or treatment given to a person who suddenly becomes ill or injured before full medical services become available. First Aid https://www.epilepsy.com/learn/seizure-first-aid-and-safety/adapting-first-aid-plans/seizure-first-aid true Emergency care or treatment given to a person who suddenly becomes ill or injured before full medical services become available. https://www.ncbi.nlm.nih.gov/mesh/D005392 Movement of a part of the body for the purpose of communication. Gestures true true Movement of a part of the body for the purpose of communication. https://www.ncbi.nlm.nih.gov/mesh/D005868 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. Hippocampus http://www.case.edu/EpSO.owl#Hippocampus 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. http://purl.obolibrary.org/obo/BTO_0000601 The desire for food generated by a sensation arising from the lack of food in the stomach. Hunger https://my.clevelandclinic.org/health/diseases/17778-temporal-lobe-seizures true true The desire for food generated by a sensation arising from the lack of food in the stomach. https://www.ncbi.nlm.nih.gov/mesh/68006815 https://www.ncbi.nlm.nih.gov/pubmed/15608956 Standardized tests that measure the present general ability or aptitude for intellectual performance. Intelligence Tests true Standardized tests that measure the present general ability or aptitude for intellectual performance. https://www.ncbi.nlm.nih.gov/mesh/D007361 https://www.ncbi.nlm.nih.gov/pubmed/28288363 Laboratory tests used to evaluate how well the kidneys are working through examination of blood and urine. renal function tests Kidney Function Tests true Laboratory tests used to evaluate how well the kidneys are working through examination of blood and urine. https://www.ncbi.nlm.nih.gov/mesh/D007677 https://www.ncbi.nlm.nih.gov/pubmed/2871721 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. Kindling Kindling model true 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. https://www.ncbi.nlm.nih.gov/mesh/D007696 An involuntary expression of merriment and pleasure; it includes the patterned motor responses as well as the inarticulate vocalization. laughing Laughter https://www.epilepsy.com/learn/types-seizures/gelastic-and-dacrystic-seizures true true An involuntary expression of merriment and pleasure; it includes the patterned motor responses as well as the inarticulate vocalization. https://www.ncbi.nlm.nih.gov/mesh/68007845 Blood tests that are used to evaluate how well a patient's liver is working and also to help diagnose liver conditions. Liver Function Tests https://www.webmd.com/epilepsy/guide/epilepsy-blood-test true Blood tests that are used to evaluate how well a patient's liver is working and also to help diagnose liver conditions. https://www.ncbi.nlm.nih.gov/mesh/D008111 Investigative technique commonly used during electroencephalography in which a series of bright light flashes or visual patterns are used to elicit brain activity. Noachter 1999 Photic Stimulation Photic Stimulation true Investigative technique commonly used during electroencephalography in which a series of bright light flashes or visual patterns are used to elicit brain activity. https://www.ncbi.nlm.nih.gov/mesh/D010775 Non-acceptance, negative attitudes, hostility or excessive criticism of the individual which may precipitate feelings of rejection. Rejection (Psychology) true Non-acceptance, negative attitudes, hostility or excessive criticism of the individual which may precipitate feelings of rejection. https://www.ncbi.nlm.nih.gov/mesh/D012059 https://www.ncbi.nlm.nih.gov/pubmed/16059497 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. Sleep Deprivation true 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. https://www.ncbi.nlm.nih.gov/mesh/D012892 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. Speech Therapy https://www.asdclinic.co.uk/conditions/epilepsy/speech-and-language-therapy-for-epilepsy.php true 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. https://www.ncbi.nlm.nih.gov/mesh/D013070 https://www.ncbi.nlm.nih.gov/pubmed/3064627 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. Theta Rhythm http://www.case.edu/EpSO.owl#ThetaActivity https://emedicine.medscape.com/article/1139332-overview#a1 true 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. https://www.ncbi.nlm.nih.gov/mesh/D013826 https://www.ncbi.nlm.nih.gov/pubmed/10908505 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. Yoga true 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. https://www.ncbi.nlm.nih.gov/mesh/68015013 https://www.ncbi.nlm.nih.gov/pubmed/13789853 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. closed head injury Head Injuries, Closed true 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. https://www.ncbi.nlm.nih.gov/mesh/D016489 https://www.ncbi.nlm.nih.gov/pubmed/14630489 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. Aromatherapy true 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. https://www.ncbi.nlm.nih.gov/mesh/Aromatherapy Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones. Craniofacial Abnormalities https://medlineplus.gov/craniofacialabnormalities.html true Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones. https://www.ncbi.nlm.nih.gov/mesh/68019465 https://www.ncbi.nlm.nih.gov/pubmed/26835338 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. Hemispherectomy true 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. https://www.ncbi.nlm.nih.gov/mesh/D038421 https://www.ncbi.nlm.nih.gov/pubmed/30760973 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. Ketogenic Diet true 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. https://www.ncbi.nlm.nih.gov/mesh/D055423 https://www.ncbi.nlm.nih.gov/pubmed/22826811 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. Vagus Nerve Stimulation true 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. https://www.ncbi.nlm.nih.gov/mesh/D055536 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. Endophenotypes true 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. https://www.sciencedirect.com/topics/neuroscience/endophenotype Wave-like oscillations of electric potential between parts of the brain recorded by EEG. Noachter 1999 Brain Wave Brain Waves true Wave-like oscillations of electric potential between parts of the brain recorded by EEG. https://www.ncbi.nlm.nih.gov/mesh/D058256 https://www.ncbi.nlm.nih.gov/pubmed/28214547 Pathological processes or diseases where cerebral MICROVESSELS show abnormalities. They are often associated with aging, hypertension and risk factors for lacunar infarcts. Cerebral Small Vessel Diseases true Pathological processes or diseases where cerebral MICROVESSELS show abnormalities. They are often associated with aging, hypertension and risk factors for lacunar infarcts. https://www.ncbi.nlm.nih.gov/mesh/D059345 Non-invasive methods of visualizing the central nervous system, especially the brain, by various imaging modalities. Neuroimaging true Non-invasive methods of visualizing the central nervous system, especially the brain, by various imaging modalities. https://www.ncbi.nlm.nih.gov/mesh/68059906 Methods for visualizing regional blood flow, metabolic, electrical, or other physiological activities in the central nervous system using various imaging modalities. Neuroimaging Test Functional Functional Neuroimaging true Methods for visualizing regional blood flow, metabolic, electrical, or other physiological activities in the central nervous system using various imaging modalities. https://www.ncbi.nlm.nih.gov/mesh/68059907 https://www.ncbi.nlm.nih.gov/books/NBK2609/ Clinical or physiological indicators that precede the onset of disease. prodrome Prodromal Symptoms true Clinical or physiological indicators that precede the onset of disease. https://www.ncbi.nlm.nih.gov/mesh/D062706 https://www.ncbi.nlm.nih.gov/pubmed/24686330 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. Gamma Rhythm true true 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. http://ncbi.nlm.nih.gov/mesh/D065818 A quality inhering in a bearer by virtue of the bearer's disposition to detect or perceive external stimulation. sensitivity quality PATO:0000085 sensitivity toward 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. PATO:0000137 angular placement quality amount of rotation angle angular magnitude plane angle PATO:0000133 orientation A spatial quality inhering in a bearer by virtue of the bearer's spatial location relative to other objects in the vicinity. PATO:0001032 PATO:0001631 location placement relational spatial quality quality PATO:0000140 position A quality of a single process inhering in a bearer by virtue of the bearer's occurrence per unit time. quality PATO:0000161 rate A quality inhering in a bearer by virtue of the bearer's disposition to being sensitivity to the action of radiant energy. https://www.ncbi.nlm.nih.gov/pubmed/28532712 quality PATO:0000927 photosensitivity true true A quality of a physical entity that exists through action of continuants at the physical level of organisation in relation to other entities. PATO:0002079 Wikipedia:Physical_property relational physical quality quality PATO:0001018 physical quality A quality which inheres in an process. PATO:0001239 PATO:0001240 quality of a process quality of occurrent quality of process relational quality of occurrent quality PATO:0001236 See comments of relational quality of a physical entity. process quality A quality which inheres in a continuant. PATO:0001237 PATO:0001238 snap:Quality monadic quality of a continuant multiply inhering quality of a physical entity quality of a continuant quality of a single physical entity quality of an object quality of continuant monadic quality of an object monadic quality of continuant quality PATO:0001241 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. physical object quality A quality of a single process inhering in a bearer by virtue of the state of bearer's mechanical, physical, and biochemical processes. quality PATO:0001912 physiological state A physiological state which is characterized by periods of high-frequency high amplitude electrical activity in neuronal tissue. https://www.ncbi.nlm.nih.gov/pubmed/32154929 quality PATO:0001913 ictal true true A quality that inheres in an entire organism or part of an organism. quality PATO:0001995 organismal quality george 2009-06-05T09:16:46Z quality PATO:0002062 physical quality of a process 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. george 2009-10-13T06:38:53Z quality PATO:0002131 abduction true An angular placement quality inhering in a bearer by virtue of the bearer being changed in position in relation to another entity. george 2010-01-14T04:45:18Z quality mislocalised to PATO:0002168 displaced to 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. pathway PW:0000001 pathway 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. https://www.ncbi.nlm.nih.gov/pubmed/26677173 pathway KEGG:04010 MAPK signaling pathway PW:0000007 mitogen activated protein kinase signaling pathway true 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. https://www.ncbi.nlm.nih.gov/pubmed/27346214 pathway immune response PW:0000023 immune response pathway true 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. https://www.ncbi.nlm.nih.gov/pubmed/30912766 pathway CLR signaling pathway PW:0000024 inflammatory response pathway true 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. https://www.ncbi.nlm.nih.gov/pubmed/29467619 pathway KEGG:04720 LTP PW:0000060 long term potentiation true 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. https://www.ncbi.nlm.nih.gov/pubmed/30767241 pathway KEGG:00310 SMP:00037 PW:0000073 lysine degradation pathway true A pathway that mediates or facilitates the movement of biochemical material, organic and inorganic substances and/or drugs. https://www.ncbi.nlm.nih.gov/pubmed/23252947 pathway PW:0000103 transport pathway true 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. https://www.ncbi.nlm.nih.gov/pubmed/24114605 https://www.ncbi.nlm.nih.gov/pubmed/30767241 vitamin B6 metabolism pathway KEGG:00750 SMP:00017 pyridoxine metabolic pathway PW:0000138 vitamin B6 metabolic pathway true 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. https://www.ncbi.nlm.nih.gov/pubmed/29359340 pathway KEGG:04150 PID:200096 PW:0000180 mTOR signaling pathway true 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. https://www.ncbi.nlm.nih.gov/pubmed/29737480 Notch signaling pathway KEGG:04330 PID:200015 PW:0000204 Notch signaling pathway true 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. https://www.ncbi.nlm.nih.gov/pubmed/26260962 pathway innate immunity PW:0000234 innate immune response pathway true Those pathways involved in the degradation of proteins. https://www.ncbi.nlm.nih.gov/pubmed/24914213 pathway Protein degradation PW:0000325 protein degradation pathway true 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. https://www.ncbi.nlm.nih.gov/pubmed/29512697 pathway PID:200062 PW:0000388 Reelin signaling pathway true 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. https://www.ncbi.nlm.nih.gov/pubmed/30262417 pathway BDNF signaling pathway PW:0000572 brain-derived neurotrophic factor signaling pathway true 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. https://www.ncbi.nlm.nih.gov/pubmed/17910583 PI3K-pathway phosphatidylinositol 3-kinase pathway - give exact synonym pathway KEGG:04070 PI3K signaling pathway phosphoinositide 3-kinase signaling pathway PW:0000595 phosphatidylinositol 3-kinase signaling pathway true 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. VPetri 2010-03-15T11:01:15Z https://www.ncbi.nlm.nih.gov/pubmed/25221392 pathway drug metabolism PW:0000754 drug pathway true 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. VPetri 2011-03-09T11:57:08Z https://www.ncbi.nlm.nih.gov/pubmed/25433904 glutamatergic signaling pathway KEGG:04724 PW:0000844 glutamate signaling pathway true 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. VPetri 2011-03-09T02:10:16Z https://www.ncbi.nlm.nih.gov/pubmed/28074534 pathway KEGG:04727 PW:0000848 gamma-aminobutyric acid signaling pathway true 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. VPetri 2012-11-05T10:53:28Z https://www.ncbi.nlm.nih.gov/pubmed/24723228 Calcium signaling pathway KEGG:04020 PW:0001140 calcium/calcium-mediated signaling pathway true https://www.ncbi.nlm.nih.gov/pubmed/26254980 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_ontology RGD ID: 68042 RS:0000274 GEPR true 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. https://www.ncbi.nlm.nih.gov/pubmed/25312505 rat_strain_ontology RS:0000457 rat strain Rat strains carrying mutated alleles, spontaneously occurred, chemical-induced, genome-edited and others, are included in the mutant strain. rat_strain_ontology RS:0000461 mutant strain 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. rat_strain_ontology RS:0000480 GAERS true 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. https://www.ncbi.nlm.nih.gov/pubmed/26742792 P77PMC rat is a breed of rat with congenital audiogenic seizure. rat_strain_ontology RGD ID: 68115 RS:0000637 P77PMC true P77PMC rat is a breed of rat with congenital audiogenic seizure. https://www.ncbi.nlm.nih.gov/pubmed/8413853 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. RNigam 2010-02-10T12:00:00Z rat_strain_ontology RS:0000765 inbred strain 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. rat_strain_ontology RGD ID: 737924 RS:0000969 WAG/Rij true 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. https://www.ncbi.nlm.nih.gov/pubmed/21093520 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. rat_strain_ontology RGD ID: 1599759 groggy rat RS:0001318 GRY/Idr true 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. https://www.ncbi.nlm.nih.gov/pubmed/25312505 RNigam 2010-01-05T12:00:00Z https://www.ncbi.nlm.nih.gov/pubmed/25312505 Established by ENU mutagenesis. A missense mutant N1417H (4246A>G)was identified in the model. rat_strain_ontology Boo F344-Ker/Kyo Kyoto Epileptic Rat NBRP Rat No: 0458 RGD ID: 2314163 autosomal dominant myokymia and seizures rat RS:0001872 F344-Adms/Kyo true Established by ENU mutagenesis. A missense mutant N1417H (4246A>G)was identified in the model. https://rgd.mcw.edu/rgdweb/report/strain/main.html?id=2306042 RNigam 2010-01-05T12:00:00Z Scn1a-targeted rats carrying a missense mutation (N1417H) in the third pore region of the sodium channel were developed by gene-driven ENU mutagenesis. rat_strain_ontology F344-Scn1aKyo811/Kyo NBRP Rat No: 0455 RGD ID: 2306042 RS:0001877 F344-Scn1am1Kyo true Scn1a-targeted rats carrying a missense mutation (N1417H) in the third pore region of the sodium channel were developed by gene-driven ENU mutagenesis. https://www.ncbi.nlm.nih.gov/pubmed/25312505 RNigam 2014-04-23T09:05:21Z https://www.ncbi.nlm.nih.gov/pubmed/25312505 Developed by gene driven ENU mutagenesis in F344/NSlc rats. Lgi1-mutant rats carrying a missense mutation (c.1154 T > G)(L385R). rat_strain_ontology Lgi1 mutant rat NBRP Rat No: 0656 RGD ID: 8552275 RS:0003717 F344-Lgi1m1Kyo true Developed by gene driven ENU mutagenesis in F344/NSlc rats. Lgi1-mutant rats carrying a missense mutation (c.1154 T > G)(L385R). https://rgd.mcw.edu/rgdweb/report/strain/main.html?id=8552275 sjwang 2017-02-21T09:41:16Z https://www.ncbi.nlm.nih.gov/pubmed/25312505 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. rat_strain_ontology RGD ID: 12738218 RS:0004315 SD-GEPR-9 true 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. https://rgd.mcw.edu/rgdweb/report/strain/main.html?id=12738218 sjwang 2017-11-14T14:20:23Z https://www.ncbi.nlm.nih.gov/pubmed/25312505 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. rat_strain_ontology RGD ID: 13450922 RS:0004561 SD-GEPR-3 true 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. https://rgd.mcw.edu/rgdweb/report/strain/main.html?id=13450922 sjwang 2019-07-12T14:00:53Z https://www.ncbi.nlm.nih.gov/pubmed/28506440 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. RGD ID: 14695083 Wistar audiogenic rat rat_strain_ontology RS:0004742 W/Lnne true 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. https://www.ncbi.nlm.nih.gov/pubmed/30517024 Ataxia is a neurological and physiological symptom characterized by an inability to coordinate voluntary muscular movements that is symptomatic of some nervous disorders. uncoordination symptoms SYMP:0000005 ataxia true 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. symptoms SYMP:0000016 confusion true Dehydration is a nutrition, metabolism, and development symptom characterized by an abnormal depletion of body fluids. symptoms SYMP:0000020 dehydration https://www.epilepsy.com/learn/about-epilepsy-basics/what-are-risk-factors true 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. symptoms SYMP:0000022 depression http://www.case.edu/EpSO.owl#Depression https://www.epilepsy.com/living-epilepsy/healthy-living/emotional-health/overview-depression true 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. https://www.psychiatry.org/patients-families/depression/what-is-depression https://www.ncbi.nlm.nih.gov/pubmed/11219629 symptoms SYMP:0000051 doid/symp duplicate hydrocephalus true 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. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3378051/ symptoms SYMP:0000061 inflammation http://www.case.edu/EpSO.owl#Inflammation true Lethargy is a fatigue characterized as abnormal drowsiness. symptoms SYMP:0000075 lethargy https://www.epilepsy.org.uk/info/wellbeing/fatigue true true Meningoencephalitis is a nervous system symptom characterized as an inflammation of the brain and meninges. 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. bacterial meningitis or meningoencephalitis symptoms SYMP:0000089 doid/symp duplicate https://www.ilae.org/guidelines/definition-and-classification meningoencephalitis true 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. https://www.epilepsydiagnosis.org/aetiology/infectious-groupoverview.html 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. https://www.ncbi.nlm.nih.gov/pubmed/25535236 symptoms SYMP:0000092 skin lesion true 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. symptoms SYMP:0000099 pain true Seizures seizure symptoms SYMP:0000124 seizure Thirst is a general symptom characterized by a sensation of dryness in the mouth and throat associated with a desire for liquids. https://www.ncbi.nlm.nih.gov/pubmed/?term=30416962 symptoms SYMP:0000156 thirst true symptoms SYMP:0000183 muscle symptom https://www.ncbi.nlm.nih.gov/pubmed/28139515 Discomfort feeling in abdomen symptoms SYMP:0000188 abdominal discomfort Discomfort feeling in abdomen https://www.ncbi.nlm.nih.gov/pubmed/30095344 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. https://www.ncbi.nlm.nih.gov/pubmed/22637287 https://www.ncbi.nlm.nih.gov/pubmed/22698381 AF a-fib auricular fibrillation symptoms SYMP:0000226 doid/symp duplicate atrial fibrillation true Bradycardia is a cardiovascular system symptom consisting of a relatively slow heart action whether physiological or pathological. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4468352/ symptoms SYMP:0000231 bradycardia true true symptoms SYMP:0000254 dilated pupil Arrhythmia is a cardiovascular system symptom consisting of an alteration in rhythm of the heartbeat either in time or force. SYMP:0000288 SYMP:0000667 SYMP:0000668 abnormal heart beat abnormal heart rhythm dysrhythmia heart rhythm symptom symptoms fluctuation of heart rate SYMP:0000287 arrhythmia Belching is a digestive system symptom involving the sudden expulsion of gas from the stomach through the mouth. eructation symptoms SYMP:0000290 belching true Ptosis is a general symptom characterized by a sagging or prolapse of an organ or part. droopiness symptoms SYMP:0000369 doid/symp duplicate ptosis true true symptoms SYMP:0000387 head symptom https://www.ncbi.nlm.nih.gov/pubmed/18539570 excessive pupil dilation prolonged pupil dilation symptoms SYMP:0000396 mydriasis true true 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. symptoms SYMP:0000399 vertigo true 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. bruises bruising contusion ecchymosis symptoms SYMP:0000406 bruise https://www.epilepsy.com/learn/seizure-first-aid-and-safety/staying-safe/types-injuries true 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. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4623123/ symptoms SYMP:0000408 cataplexy http://www.case.edu/EpSO.owl#Cataplexy true symptoms SYMP:0000410 neurological and physiological symptom Anxiety is a neurological and physiological symptom characterized by a painful or apprehensive uneasiness of mind usually over an impending or anticipated ill. https://www.ncbi.nlm.nih.gov/pubmed/30698542 symptoms SYMP:0000412 anxiety true Dysarthria is a neurological and physiological symptom characterized by a difficulty in articulating words due to disease of the central nervous system. symptoms SYMP:0000414 dysarthria true symptoms SYMP:0000417 pupil symptom 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. blockage of leg arteries symptoms SYMP:0000424 claudication https://www.epilepsy.com/learn/types-seizures/atonic-seizures true 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. https://www.ncbi.nlm.nih.gov/pubmed/22791548 symptoms SYMP:0000428 hypoventilation true 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. https://www.ncbi.nlm.nih.gov/books/NBK2511/ Tingling symptoms SYMP:0000435 paresthesia true true ICD9CM_2005:785.51 SyOID:10218 UMLS_CUI:C0036980 UMLS_ICD9CM_2005_AUI:A0243814 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. symptoms SYMP:0000449 cardiogenic shock https://www.epilepsy.com/learn/professionals/co-existing-disorders/cardiac-disorders true 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. https://www.ncbi.nlm.nih.gov/pubmed/24188221 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. ICD9CM_2005:785.5 UMLS_CUI:C0159051 UMLS_ICD9CM_2005_AUI:A0284197 symptoms SYMP:0000450 shock Nausea is a digestive system symptom characterized by an uneasy or unsettled feeling in the stomach together with an urge to vomit. ICD9CM_2005:787.02 SyOID:1173 UMLS_CUI:C0375548 UMLS_ICD9CM_2005_AUI:A0750850 symptoms SYMP:0000458 nausea https://www.webmd.com/epilepsy/guide/abdominal-epilepsy-in-children-and-adults true true ICD9CM_2005:787 SyOID:5330 UMLS_CUI:C0159058 UMLS_ICD9CM_2005_AUI:A0284224 symptoms SYMP:0000459 digestive system symptom ICD9CM_2005:789 ICD9CM_2005:789.9 SyOID:12097 UMLS_CUI:C0159065 UMLS_ICD9CM_2005_AUI:A0284267 UMLS_ICD9CM_2005_AUI:A0284268 symptoms SYMP:0000461 abdominal symptom A symptom is a perceived change in function, sensation, loss, disturbance or appearance reported by a patient indicative of a disease. SyOID:14974 symptoms SYMP:0000462 symptom true ICD9CM_2005:783 SyOID:2644 UMLS_CUI:C0159041 UMLS_ICD9CM_2005_AUI:A0284163 symptoms SYMP:0000473 nutrition, metabolism, and development symptom ICD9CM_2005:781 SyOID:90 UMLS_CUI:C0159033 UMLS_ICD9CM_2005_AUI:A0284131 symptoms SYMP:0000480 nervous system symptom ICD9CM_2005:788 SyOID:2134 UMLS_CUI:C0476293 UMLS_ICD9CM_2005_AUI:A0284245 symptoms SYMP:0000486 urinary system symptom ICD9CM_2005:782 ICD9CM_2005:782.9 SyOID:2103 UMLS_CUI:C0159037 UMLS_ICD9CM_2005_AUI:A0284146 UMLS_ICD9CM_2005_AUI:A0284161 symptoms SYMP:0000488 skin and integumentary tissue symptom Urinary incontinence is a urinary system symptom characterized by the an inability of the body to control the evacuative functions. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5885137/ https://www.ncbi.nlm.nih.gov/pubmed/23142708 ICD9CM_2005:788.3 ICD9CM_2005:788.30 SyOID:5372 UMLS_CUI:C0042024 UMLS_ICD9CM_2005_AUI:A0814766 UMLS_ICD9CM_2005_AUI:A6994675 incontinence symptoms SYMP:0000492 urinary incontinence true 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. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5639272/ ICD9CM_2005:784.3 SyOID:14727 UMLS_CUI:C0003537 UMLS_ICD9CM_2005_AUI:A0025556 inability to comprehend language symptoms SYMP:0000508 doid/symp duplicate aphasia true true Pallor is a skin and integumentary tissue symptom characterized as a deficiency of color especially of the face. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC531654/ ICD9CM_2005:782.61 SyOID:14889 UMLS_CUI:C0030232 UMLS_ICD9CM_2005_AUI:A0096956 paleness symptoms SYMP:0000510 pallor true true 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. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC531654/ ICD9CM_2005:782.62 SyOID:14890 UMLS_CUI:C0016382 UMLS_ICD9CM_2005_AUI:A0060138 symptoms SYMP:0000511 flushing true true 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. ICD9CM_2005:786.1 SyOID:15070 UMLS_CUI:C0038450 UMLS_ICD9CM_2005_AUI:A0120146 symptoms SYMP:0000513 stridor true ICD9CM_2005:786 SyOID:5868 UMLS_CUI:C0476271 UMLS_ICD9CM_2005_AUI:A0284200 symptoms SYMP:0000514 respiratory system and chest symptom Hiccough is a respiratory system and chest symptom characterized by a spasmodic inhalation with closure of the glottis accompanied by a peculiar sound. https://www.ncbi.nlm.nih.gov/pubmed/28139515 ICD9CM_2005:786.8 SyOID:15071 UMLS_CUI:C0019521 UMLS_ICD9CM_2005_AUI:A0421293 symptoms SYMP:0000515 hiccough true ICD9CM_2005:785 SyOID:2147 UMLS_CUI:C0159049 UMLS_ICD9CM_2005_AUI:A0284192 symptoms SYMP:0000528 cardiovascular system symptom Tachycardia is a cardiovascular system symptom consisting of a relatively rapid heart action whether physiological (as after exercise) or pathological. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC531654/ ICD9CM_2005:785.0 SyOID:16496 UMLS_CUI:C0039231 UMLS_ICD9CM_2005_AUI:A0804597 symptoms SYMP:0000529 tachycardia true true 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. ICD9CM_2005:785.1 SyOID:16497 UMLS_CUI:C0030252 UMLS_ICD9CM_2005_AUI:A0004066 Palpitations abnormal heart beats symptoms SYMP:0000530 palpitation true 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. ICD9CM_2005:782.5 SyOID:17346 UMLS_CUI:C0010520 UMLS_ICD9CM_2005_AUI:A0044296 symptoms SYMP:0000537 cyanosis https://www.epilepsy.com/connect/forums/living-epilepsy-adults/cyanosis true true Nocturia is a urinary system symptom characterized by urination at night especially when excessive. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3481949/ ICD9CM_2005:788.43 SyOID:3049 UMLS_CUI:C0028734 UMLS_ICD9CM_2005_AUI:A0011475 nycturia symptoms SYMP:0000564 nocturia http://www.case.edu/EpSO.owl#Nocturia true ICD9CM_2005:780.5 SyOID:3247 UMLS_CUI:C0037317 UMLS_ICD9CM_2005_AUI:A0246756 symptoms SYMP:0000566 sleep disturbance ICD9CM_2005:780 SyOID:777 UMLS_CUI:C0159028 UMLS_ICD9CM_2005_AUI:A0284119 symptoms SYMP:0000567 general symptom Insomnia is a sleep disturbance characterized by prolonged and usually abnormal inability to obtain adequate sleep. ICD9CM_2005:780.52 SyOID:3766 UMLS_CUI:C0029645 UMLS_ICD9CM_2005_AUI:A0243733 agrypnia symptoms SYMP:0000571 insomnia http://www.case.edu/EpSO.owl#Insomnia https://www.epilepsysociety.org.uk/7-top-tips-better-sleep-epilepsy-and-insomnia true Hypersomnia is a sleep disturbance characterized by sleeping for excessive periods at intervals with intervening periods of normal duration of sleeping and waking. ICD9CM_2005:780.54 SyOID:5380 UMLS_CUI:C0029637 UMLS_ICD9CM_2005_AUI:A0243739 symptoms SYMP:0000582 hypersomnia http://www.case.edu/EpSO.owl#Hypersomnia https://www.ajmc.com/conferences/sleep-2013/epilepsy-and-sleep-defining-the-relationship true ICD9CM_2005:780.58 SyOID:5383 UMLS_CUI:C1455873 UMLS_ICD9CM_2005_AUI:A6995224 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. Sleep related rhythmic movement disorders symptoms SYMP:0000585 sleep related movement disorder true 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. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#sleep-disorder ICD9CM_2005:784 SyOID:7123 UMLS_CUI:C0476247 UMLS_ICD9CM_2005_AUI:A0284173 symptoms SYMP:0000597 head and neck symptom ICD9CM_2005:786.0 SyOID:7239 UMLS_CUI:C0159053 UMLS_ICD9CM_2005_AUI:A0284202 symptoms SYMP:0000598 respiratory abnormality 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). ICD9CM_2005:786.03 SyOID:7243 UMLS_CUI:C0003578 UMLS_ICD9CM_2005_AUI:A0025648 symptoms SYMP:0000600 apnea true Dizziness is a neurological and physiological symptom characterized by a sensation of unsteadiness accompanied by a feeling of movement within the head. https://www.ncbi.nlm.nih.gov/books/NBK2609/ ICD9CM_2005:780.4 SyOID:7637 UMLS_CUI:C0476206 UMLS_ICD9CM_2005_AUI:A0243727 dizzy symptoms SYMP:0000610 dizziness true true https://www.ncbi.nlm.nih.gov/pubmed/27638925 Memory deficits symptoms SYMP:0000719 memory impairment true 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. 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. apoplexy brain attack cerebral accident cerebrovascular accident symptoms SYMP:0000734 stroke true 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. https://www.epilepsydiagnosis.org/aetiology/stroke-overview.html Hypoesthesia is a general symptom where there is a diminished sensitivity to stimulation. numbness symptoms SYMP:0000834 hypoesthesia true Chronic pain is a pain that can range from mild to severe, and continues beyond the expected healing phase. https://www.ncbi.nlm.nih.gov/pubmed/20161538 symptoms SYMP:0000837 chronic pain true 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. symptoms SYMP:0000874 hematoma lschriml 2010-10-15T11:48:05Z symptoms SYMP:0000891 musculoskeletal system symptom Sensation perception is a nervous system symptom where the information perceived by sensory receptors are interpreted. lschriml 2010-10-15T11:54:30Z symptoms SYMP:0000892 sensation perception An arrhythmia characterized by rapid, irregular, and unsynchronized contraction of muscle fibers within the heart. symptoms SYMP:0000898 cardiac fibrillation Diaphoresis is a sweat characterized as excessive sweating commonly associated with shock and other medical emergency conditions. https://www.ncbi.nlm.nih.gov/pubmed/29763181 profuse perspiration symptoms SYMP:0019152 diaphoresis https://www.healthline.com/health/diaphoresis#sweat true true symptoms SYMP:0019163 eye symptom Meningitis is a nervous system symptom characterized as an inflammation of the meninges and especially of the pia mater and the arachnoid. https://www.ncbi.nlm.nih.gov/pubmed/18754955 symptoms SYMP:0019173 meningitis http://www.case.edu/EpSO.owl#Meningitis true A skin and integumentary tissue symptom characterized as the excretion of moisture in visible quantities through the opening of the sweat glands. https://www.ncbi.nlm.nih.gov/pubmed/15562299 Sweating perspire symptoms SYMP:0019175 sweaty true 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. symptoms SYMP:0019176 malaise https://www.epilepsy.com/learn/professionals/co-existing-disorders/metabolic-disorders/electrolyte-abnormalities/hyponatremia true true Fatigue is a neurological and physiological symptom characterized by a weariness or exhaustion from labor, exertion, or stress. symptoms SYMP:0019177 fatigue true A nervous system symptom that involves, is related to, or emphasizes behavior. behavioral symptom A behavioral symptom that is characterized by a restricted rate of information processing by the brain. Decreased attention Impaired Attention limited attention https://www.epilepsy.com/learn/challenges-epilepsy/moods-and-behavior/mood-and-behavior-advanced/impaired-attention true 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). fornix https://www.ncbi.nlm.nih.gov/pubmed/23613463 BAMS:f BIRNLEX:705 DHBA:10576 DMBA:17767 EMAPA:35352 FMA:61965 FMA:83865 HBA:9249 MA:0002747 NCIT:C32289 UMLS:C0152334 UMLS:C0458370 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=268 brain fornix cerebral fornix forebrain fornix fornix of neuraxis neuraxis fornix uberon fornix (column and body of fornix) fornix cerebri fornix hippocampus hippocampus fornix UBERON:0000052 fornix of brain true true A tubular structure that contains, conveys body fluid, such as blood or lymph. uberon UBERON:0000055 vessel Material anatomical entity that is a single connected structure with inherent 3D shape generated by coordinated expression of the organism's own genome. AAO:0010825 AEO:0000003 BILA:0000003 CARO:0000003 EHDAA2:0003003 EMAPA:0 FBbt:00007001 FMA:305751 FMA:67135 GAID:781 HAO:0000003 MA:0003000 MESH:D000825 TAO:0000037 TGMA:0001823 VHOG:0001759 XAO:0003000 ZFA:0000037 biological structure connected biological structure uberon UBERON:0000061 anatomical structure Anatomical structure that performs a specific function or group of functions [WP]. 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. 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 BIRNLEX:4 CARO:0020004 EFO:0000634 EMAPA:35949 ENVO:01000162 FMA:67498 MA:0003001 NCIT:C13018 OpenCyc:Mx4rv5XMb5wpEbGdrcN5Y29ycA OpenCyc:Mx4rwP3iWpwpEbGdrcN5Y29ycA UMLS:C0178784 WBbt:0003760 uberon anatomical unit body organ element UBERON:0000062 organ A multicellular structure that is a part of an organ. currently defined in a very broad sense, may be replaced by more specific classes in the future AAO:0011124 BIRNLEX:16 EFO:0000635 FMA:82472 cardinal organ part uberon regional part of organ UBERON:0000064 organ part Any part or collection of parts of the central or peripheral nervous system. Parts may span both CNS and PNS. Melissa Haendel 2009-06-18T09:00:04Z BIRNLEX:1157 NCIT:C13040 UMLS:C1518256 part of nervous system uberon UBERON:0000073 regional part of nervous system A depression or fissure in the surface of an organ. cjm 2009-04-09T06:23:22Z uberon UBERON:0000093 sulcus Portion of tissue, that consists of single layer of cells connected to each other by cell junctions. Examples: layer of glial cells; epithelium. consider adding to caro layer NCIT:C66831 layer of cells uberon cell sheath sheath of cells UBERON:0000119 cell layer A fasciculated bundle of neuron projections (GO:0043005), largely or completely lacking synapses. UBERON:0005163 CARO:0001001 FBbt:00005099 NLX:147821 funiculus nerve fiber bundle neural fiber bundle uberon UBERON:0000122 neuron projection bundle 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) Anatomical structure consisting of a discrete aggregate of neuronal soma[GO][GO_REF:0000021]. 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. nucleus AEO:0000136 FMA:83686 NCIT:C13197 NLX:28443 nervous system nucleus neuraxis nucleus neuronal nucleus nucleus of CNS uberon nucleus of neuraxis UBERON:0000125 neural nucleus A ridge on the cerebral cortex. It is generally surrounded by one or more sulci . BTO:0002495 FMA:83874 NCIT:C32290 UMLS:C0458308 cerebral gyrus gyrus of neuraxis neuraxis gyrus uberon folia folium folium of brain gyri gyri of cerebrum gyrus of cerebral hemisphere gyrus of cerebrum UBERON:0000200 gyrus 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] mucosal 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 AEO:0000199 BTO:0000886 CALOHA:TS-2031 EHDAA2_RETIRED:0003234 EV:0100382 FMA:85355 FMA:85358 GAID:297 MESH:D009092 NCIT:C13166 OpenCyc:Mx4rvmKNOpwpEbGdrcN5Y29ycA UMLS:C0026724 galen:Mucosa mucosa of organ mucosa of organ part mucosal region mucous membrane organ mucosa uberon region of mucosa tunica mucosa UBERON:0000344 mucosa Gray matter structure located on the midline of the forebrain consisting of the septum pellucidum (in some species) and the septal nuclei (Heimer, 1996). Subdivision of the telencephalon on the midline between the lateral ventricles which contains the septum pellucidum and the septal nuclei[FMA][FMA:61842]. Se septum BAMS:SA BAMS:SEP BAMS:Sep BAMS:Spt BIRNLEX:963 BM:Tel-Spt BTO:0002705 EMAPA:32837 FMA:61842 MA:0000924 MESH:A08.186.211.577.750 UMLS:C0752060 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=255 area septalis septal area septum (NN) telencephalon septum uberon massa praecommissuralis septal region septum pellucidum (BNA,PNA) septum telencephali UBERON:0000446 septum of telencephalon true 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 TODO - check MA BAMS:FrA BTO:0002807 DHBA:10172 EFO:0001384 EMAPA:35356 FMA:224850 GAID:676 MA:0000906 MESH:A08.186.211.730.885.213.270.700 NLXANAT:090801 prefrontal association cortex uberon frontal association cortex prefrontal association complex UBERON:0000451 prefrontal cortex true The layer located below the cerebral cortex that includes the forebrain, midbrain and hindbrain. https://www.ncbi.nlm.nih.gov/pubmed/23671345 BTO:0002858 FMA:242188 NCIT:C98712 UMLS:C0815008 cerebral medulla uberon subcortex UBERON:0000454 cerebral subcortex http://www.case.edu/EpSO.owl#SubcorticalTelecephalonSegment true 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. lumen space AAO:0010110 AEO:0000005 BILA:0000005 CARO:0000005 EHDAA2:0003005 FBbt:00007017 FMA:5897 HAO:0000005 NCIT:C94478 TAO:0001668 TGMA:0001825 UMLS:C0524461 VHOG:0001728 XAO:0003190 ZFA:0001643 lumen space uberon anatomical spaces UBERON:0000464 anatomical space Anatomical entity that has mass. AAO:0010264 AEO:0000006 BILA:0000006 CARO:0000006 EHDAA2:0003006 FBbt:00007016 FMA:67165 HAO:0000006 TAO:0001836 TGMA:0001826 VHOG:0001721 uberon UBERON:0000465 material anatomical entity Anatomical entity that has no mass. AAO:0010265 AEO:0000007 BILA:0000007 CARO:0000007 EHDAA2:0003007 FBbt:00007015 FMA:67112 HAO:0000007 TAO:0001835 TGMA:0001827 VHOG:0001727 immaterial physical anatomical entity uberon UBERON:0000466 immaterial anatomical entity Anatomical group that has its parts adjacent to one another. Will be obsoleted in CARO v2 [https://github.com/obophenotype/caro/issues/3] AAO:0010009 AEO:0000041 BILA:0000041 CARO:0000041 EHDAA2:0003041 FBbt:00007277 FMA:49443 HAO:0000041 TADS:0000605 TAO:0001478 TGMA:0001842 VHOG:0001737 XAO:0003160 ZFA:0001478 uberon UBERON:0000477 anatomical cluster 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. changed label and definition to reflect CARO2 AAO:0000607 AAO:0010054 AEO:0000043 BILA:0000043 BIRNLEX:19 CALOHA:TS-2090 CARO:0000043 EHDAA2:0003043 EMAPA:35868 FBbt:00007003 FMA:9637 HAO:0000043 MA:0003002 MESH:D014024 NCIT:C12801 TAO:0001477 TGMA:0001844 UMLS:C0040300 VHOG:0001757 WBbt:0005729 XAO:0003040 ZFA:0001477 galen:Tissue portion of tissue tissue portion simple tissue uberon UBERON:0000479 tissue 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. AAO:0010048 AEO:0000055 BILA:0000055 CARO:0000055 EHDAA2:0003055 FBbt:00007010 HAO:0000055 TAO:0001488 TGMA:0001847 VHOG:0001762 XAO:0003037 ZFA:0001488 uberon multi-tissue structures UBERON:0000481 multi-tissue structure 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]. requires review for applicability to invertebrate structures, e.g. synganglion Cavitated compound organ which is comprised of gray and white matter and surrounds the cerebral ventricular system.[TAO] Part of the central nervous system situated within the cranium and composed of both nerve cell bodies and nerve fibers.[AAO] 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) (...) 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] https://www.ncbi.nlm.nih.gov/pubmed/23622192 AAO:0010478 ABA:Brain BAMS:Br BAMS:Brain BILA:0000135 BIRNLEX:796 BTO:0000142 CALOHA:TS-0095 DHBA:10155 EFO:0000302 EHDAA2:0000183 EHDAA:2641 EHDAA:6485 EMAPA:16894 EV:0100164 FBbt:00005095 FMA:50801 GAID:571 HBA:4005 MA:0000168 MAT:0000098 MBA:8 MBA:997 MESH:D001921 MIAA:0000098 NCIT:C12439 OpenCyc:Mx4rvVjT65wpEbGdrcN5Y29ycA PBA:3999 TAO:0000008 UMLS:C0006104 UMLS:C1269537 VHOG:0000157 XAO:0000010 ZFA:0000008 galen:Brain http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=21 uberon encephalon suprasegmental levels of nervous system suprasegmental structures synganglion the brain UBERON:0000955 brain true 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. We follow NIFSTD in defining cerebral cortex and including both neocortex and hippocampal formation (DG+hippocampus). 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]. 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] 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] https://www.ncbi.nlm.nih.gov/pubmed/5096551 BAMS:C BAMS:CTX BAMS:Cerebral_cortex BAMS:Cx BIRNLEX:1494 BM:Tel-Cx BTO:0000233 CALOHA:TS-0091 DHBA:10159 EFO:0000328 EHDAA2:0000234 EHDAA:5464 EMAPA:17544 EV:0100166 FMA:61830 GAID:629 HBA:4008 MA:0000185 MAT:0000108 MBA:688 MESH:A08.186.211.730.885.213 MIAA:0000108 NCIT:C12443 PBA:128011354 UMLS:C0007776 VHOG:0000722 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=39 cortex of cerebral hemisphere uberon brain cortex cortex cerebralis cortex cerebri cortical plate (CTXpl) cortical plate (areas) pallium of the brain UBERON:0000956 cerebral cortex http://www.case.edu/EpSO.owl#CerebralCortexRegion true Any thin layer or plate. TODO - merge with cell layer? laminar laminar tissue uberon UBERON:0000957 lamina The part of the central nervous system lying between the medulla oblongata and the midbrain, ventral to the cerebellum. 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 The part of the central nervous system lying between the medulla oblongata and the midbrain, ventral to the cerebellum. [TFD][VHOG] 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] BAMS:PONS BAMS:Pons BIRNLEX:733 BM:Pons BTO:0001101 CALOHA:TS-0813 DHBA:10661 EFO:0001394 EHDAA2:0004394 EMAPA:17563 EV:0100253 FMA:67943 GAID:578 HBA:9131 MA:0000204 MAT:0000115 MBA:771 MESH:D011149 MIAA:0000115 NCIT:C12511 UMLS:C0032639 UMLS:C1280999 VHOG:0001176 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=547 pons Varolii pons of Varolius uberon pons cerebri UBERON:0000988 pons true A group of axons linking two or more neuropils and having a common origin, termination[FBbt]. 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) BIRNLEX:1649 EV:0100304 FBbt:00005100 FMA:83847 NLX:147822 axonal tract neuraxis tract tract of neuraxis nerve tract uberon nerve tract tract UBERON:0001018 WP says this is the analog of peripheral nerves in CNS. axon tract 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]. 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) commissural commissure FBbt:00005103 FMA:83906 NCIT:C32349 NLX:110 NLXANAT:20090513 OpenCyc:Mx4rdBrmE6gOEdudWQACs5b6Bw TADS:0000201 UMLS:C1185742 commissure of neuraxis neuraxis commissure white matter commissure uberon UBERON:0001020 *not* the same as FMA:76741 Commissure nervous system commissure 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. AAO:0010841 AEO:0000000 BILA:0000000 BIRNLEX:6 CARO:0000000 EHDAA2:0002229 FBbt:10000000 FBbt_root:00000000 FMA:62955 HAO:0000000 MA:0000001 NCIT:C12219 TAO:0100000 TGMA:0001822 UMLS:C1515976 WBbt:0000100 XAO:0000000 ZFA:0100000 uberon UBERON:0001062 anatomical entity 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 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 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 the area of the frontal lobe that is involved with integration of voluntary movements and with speech.[MP] BAMS:M1 BAMS:MO BAMS:MOp BM:Tel-Cx-M1 BTO:0004348 DHBA:10162 EFO:0002472 EMAPA:35704 FMA:224854 MA:0000907 MBA:985 MESH:A08.186.211.730.885.213.270.548 NCIT:C97339 NLX:143555 UMLS:C0026607 motor cortex uberon Rolando's area excitable area gyrus precentralis motor area prefrontal gyrus primary motor area somatic motor areas somatomotor areas UBERON:0001384 primary motor cortex true Lower lateral part of the cerebral hemisphere. (MSH) BAMS:TL BAMS:Temporal_lobe BIRNLEX:1160 BTO:0001355 CALOHA:TS-1020 DHBA:12139 EFO:0000917 EMAPA:18797 EV:0100169 FMA:61825 GAID:635 HBA:4132 MAT:0000508 MESH:A08.186.211.730.885.213.863 NCIT:C12353 OpenCyc:Mx4rwQLi-ZwpEbGdrcN5Y29ycA UMLS:C0039485 UMLS:C1268978 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=125 lobus temporalis temporal cortex uberon UBERON:0001871 Boundary notes: It is bounded dorsally by the lateral fissure and posteriorly by an arbitrary border shared with the occipital lobe. [Wikipedia:Temporal_lobe] temporal lobe true Upper central part of the cerebral hemisphere. (MSH) parietal region BAMS:Parietal_lobe BIRNLEX:1148 BTO:0001001 CALOHA:TS-0747 DHBA:12131 EFO:0000914 EV:0100168 FMA:61826 GAID:680 HBA:4084 MAT:0000506 MESH:A08.186.211.730.885.213.670 NCIT:C12354 OpenCyc:Mx4rvg-typwpEbGdrcN5Y29ycA UMLS:C0030560 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=95 regio parietalis uberon lobus parietalis UBERON:0001872 parietal lobe true 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). Subdivision of basal ganglion of telencephalon which is an almond-shaped gray mass in the dorsomedial part of the temporal lobe[FMA:61841] 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] amygdalar MA and FMA differ on relationship to basal ganglion. The FMA text def suggests a subdivision, but it is classified as a subtype https://www.ncbi.nlm.nih.gov/pubmed/23671345 BAMS:AMY BAMS:Amg BAMS:Amy BAMS:Amygdala BAMS:Amygdaloid_complex BIRNLEX:1241 BM:Tel-Am BTO:0001042 CALOHA:TS-0037 DHBA:10361 EFO:0000252 EMAPA:32672 EMAPA:36051 EV:0100189 EV:0100190 FMA:61841 GAID:616 HBA:4327 MA:0000887 MAT:0000289 MESH:A08.186.211.577.090 MIAA:0000289 NCIT:C12440 OpenCyc:Mx4rwJC_2ZwpEbGdrcN5Y29ycA PBA:4002 UMLS:C0002708 VHOG:0001277 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=237 amygdaloid body amygdaloid complex amygdaloid nuclear complex amygdaloid nuclear groups archistriatum uberon amygdaloid area amygdaloid nuclear group amygdaloid nucleus corpus amygdalae corpus amygdaloideum nucleus amygdalae UBERON:0001876 amygdala http://www.case.edu/EpSO.owl#Amygdala true The most anterior region the brain including both the telencephalon and diencephalon. Most anterior of the three regions of the brain consisting of the telencephalon and diencephalon.[AAO] The most anterior region the brain including both the telencephalon and diencephalon. Kimmel et al, 1995.[TAO] relationship loss: develops_from forebrain neural tube (TAO:0007041)[TAO] 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] prosencephalic FB AAO:0010147 BAMS:FB BAMS:Forebrain BIRNLEX:1509 BTO:0000478 CALOHA:TS-0380 DHBA:10156 DMBA:15566 EFO:0000909 EHDAA2:0000556 EHDAA:3470 EMAPA:16895 FMA:61992 MA:0000170 MAT:0000105 MESH:D016548 MIAA:0000105 NCIT:C40185 TAO:0000109 UMLS:C0085140 VHOG:0000383 XAO:0000011 ZFA:0000109 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=27 uberon prosencephalon UBERON:0001890 forebrain http://www.case.edu/EpSO.owl#Forebrain 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]. developmental relationships need revised Middle part of the brain composed of the optic tectum and penducular region.[AAO] 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] 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] mesencephalic part of brainstem in ABA - we reject this in favor of ISBN:0471888893 which has an implicit overlaps relationships MB AAO:0010149 BAMS:MES BIRNLEX:1667 BM:MB BTO:0000138 CALOHA:TS-0630 DHBA:10648 DMBA:16649 EFO:0000919 EHDAA2:0001162 EHDAA:3694 EMAPA:16974 EV:0100242 FMA:61993 HBA:9001 MA:0000207 MAT:0000106 MBA:313 MESH:D008636 MIAA:0000106 NCIT:C12510 OpenCyc:Mx4rvsBUqpwpEbGdrcN5Y29ycA RETIRED_EHDAA2:0001104 TAO:0000128 UMLS:C0025462 VHOG:0000069 XAO:0000014 ZFA:0000128 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=462 uberon mesencephalon UBERON:0001891 midbrain true Part of the forebrain consisting of paired olfactory bulbs and cerebral hemispheres. 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]. Part of the forebrain consisting of paired olfactory bulbs and cerebral hemispheres.[AAO] The anterior and dorsal forebrain neuromere, includes the olfactory bulb. Kimmel et al, 1995.[TAO] relationship loss: develops_from presumptive telencephalon (TAO:0000571)[TAO] 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] cerebral telenencephalic In mammals the cortex covers almost the whole of the cerebral hemispheres. 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] In ray-finned fishes the inner surfaces of the lateral and ventral regions of the cerebrum bulge up into the ventricles. 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. In the most primitive living vertebrates, the hagfishes and lampreys, the cerebrum is a relatively simple structure receiving nerve impulses from the olfactory bulb. 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. dolphins are the only species (other than humans) to have cerebra accounting for as much as 2 percent of their body weight. supratentorial region AAO:0010479 BAMS:CB BAMS:CH BAMS:IV BAMS:Tel BIRNLEX:1115 BM:Tel BTO:0000239 CALOHA:TS-1018 DHBA:10158 EFO:0000912 EHDAA2:0001982 EMAPA:16910 EV:0100165 FMA:62000 GAID:621 HBA:4007 MA:0000183 MAT:0000421 MBA:567 MESH:D013687 MIAA:0000421 PBA:128011350 TAO:0000079 UMLS:C0039452 VHOG:0000283 XAO:0000012 ZFA:0000079 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=31 cerebrum endbrain uberon UBERON:0001893 telencephalon true The division of the forebrain that develops from the foremost primary cerebral vesicle. 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] Unpaired part of the forebrain comprised of three major parts; the epithalamus, thalamus, and hypothalamus.[AAO] 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] diencephalic in ABA, this is part of the brain stem DiE AAO:0010481 BAMS:DI BAMS:Di BAMS:DiE BAMS:IB BAMS:Zh. BIRNLEX:1503 BM:Die BTO:0000342 CALOHA:TS-0199 DHBA:10389 DMBA:16308 EFO:0000911 EHDAA2:0000385 EHDAA:1969 EHDAA:2645 EHDAA:3472 EMAPA:16896 EV:0100194 FMA:62001 GAID:618 HBA:4391 MA:0000171 MAT:0000420 MBA:1129 MESH:A08.186.211.730.385 MIAA:0000420 NCIT:C12456 OpenCyc:Mx4rwC-V0JwpEbGdrcN5Y29ycA PBA:128013010 TAO:0000101 UMLS:C0012144 VHOG:0000318 XAO:0000013 ZFA:0000101 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=288 between brain interbrain mature diencephalon thalamencephalon uberon betweenbrain diencephalon UBERON:0001894 diencephalon http://www.case.edu/EpSO.owl#Diencephalon true 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]. Posterior portion of the hindbrain which controls respiration, heartbeat, digestion, and swallowing as well as some locomotor responses.[AAO] 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] 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] bulb medulla AAO:0010486 BAMS:MY BAMS:Md BIRNLEX:957 BM:Me BTO:0000041 CALOHA:TS-0607 DMBA:17352 EFO:0000924 EHDAA2:0001088 EHDAA:7588 EMAPA:17550 EV:0100275 FMA:62004 GAID:590 MA:0000206 MAT:0000111 MAT:0000367 MBA:354 MESH:D008526 MIAA:0000111 NCIT:C12442 OpenCyc:Mx4rvVjxSJwpEbGdrcN5Y29ycA OpenCyc:Mx4rwCqnXJwpEbGdrcN5Y29ycA TAO:0000545 UMLS:C0025148 UMLS:C1269575 VHOG:0000181 XAO:0003100 ZFA:0000545 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=698 bulbus uberon medulla oblonzata metepencephalon UBERON:0001896 medulla oblongata true 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). 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] Part of the diencephalon consisting of a mass of connecting fibers which relay sensory information to the cerebral cortex.[AAO] (...) the brain regions of tetrapods, the structures they contain, and their basic organizational features are the same as in fishes.[well established][VHOG] thalamic Th thalamus AAO:0010483 BAMS:TH BAMS:Th BIRNLEX:954 BTO:0001365 CALOHA:TS-1031 DHBA:10390 DMBA:16376 EFO:0000910 EMAPA:17540 EV:0100195 GAID:656 HBA:4392 MA:0000179 MAT:0000109 MBA:549 MESH:A08.186.211.730.385.826 MIAA:0000109 NCIT:C12459 OpenCyc:Mx4rwMPQ65wpEbGdrcN5Y29ycA PBA:128013014 TAO:0001215 UMLS:C0039729 VHOG:0000657 ZFA:0001215 galen:Thalamus http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=300 wider thalamus uberon thalamencephalon thalami thalamus opticus UBERON:0001897 dorsal plus ventral thalamus http://www.case.edu/EpSO.owl#ThalamusSegment 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]. 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] Part of the diencephalon ventral to the thalamus consisting of connecting fibers and is a center for control of the autonomous nervous system.[AAO] 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] hypothalamic all vertebrates contain a hypothalamus Hy AAO:0010484 BAMS:HY BAMS:Hy BIRNLEX:734 BM:Die-Hy BTO:0000614 CALOHA:TS-0469 DHBA:10467 EFO:0000107 EHDAA2:0000802 EHDAA:5446 EMAPA:17536 EV:0100225 FMA:62008 GAID:460 HBA:4540 MA:0000173 MAT:0000112 MBA:1097 MESH:A08.186.211.577.482 MIAA:0000112 NCIT:C12458 OpenCyc:Mx4rwEgr9JwpEbGdrcN5Y29ycA TAO:0000032 UMLS:C0020663 VHOG:0000179 XAO:0004070 ZFA:0000032 galen:Hypothalamus http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=292 preoptico-hypothalamic area preoptico-hypothalamic region uberon hypothalamus UBERON:0001898 hypothalamus http://www.case.edu/EpSO.owl#HypothalamusZone true 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). The brain structure where the two separate inputs from the two eyes are combined into a single, integrated map.[AAO] The roof of the midbrain, morphologically visible by the end of the segmentation period. Kimmel et al, 1995.[TAO] 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] The term SC is used when discussing mammals, and OT for other vertebrates[WP] https://www.ncbi.nlm.nih.gov/pubmed/3987648 AAO:0010609 BAMS:SC BIRNLEX:1040 BM:MB-Tec-SC BTO:0000965 DHBA:12292 DMBA:16678 EFO:0002474 EMAPA:32869 EV:0100245 FMA:62403 GAID:576 HBA:9114 MA:0001068 MESH:A08.186.211.132.659.237.816 TAO:0000445 UMLS:C0228405 XAO:0003226 ZFA:0000445 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=473 anterior colliculus anterior corpus quadrigeminum cranial colliculus optic tectum uberon colliculus bigeminalis oralis colliculus cranialis colliculus rostralis colliculus superior corpora bigemina corpus quadrigeminum superius dorsal midbrain layers of the superior colliculus lobus opticus nates optic lobe optic tectum strata (grisea et alba) colliculi cranialis strata (grisea et alba) colliculi superioris tectal lobe tectum tectum opticum UBERON:0001945 ). 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. superior colliculus true 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). https://www.ncbi.nlm.nih.gov/pubmed/3987648 BAMS:IC BIRNLEX:806 DHBA:12305 DMBA:16692 EFO:0002465 EMAPA:32870 EV:0100246 FMA:62404 GAID:575 HBA:9102 MA:0001067 MBA:4 MESH:A08.186.211.132.659.237.364 UMLS:C0228411 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=476 caudal colliculus inferior colliculi posterior colliculus posterior corpus quadrigeminum uberon colliculus caudalis colliculus inferior corpus bigeminalis caudalis corpus bigeminum posterioris corpus quadrigeminum inferius UBERON:0001946 inferior colliculus true A nervous system structure composed primarily of nerve cell bodies (somas). May also include dendrites and the initial unmyelinated portion of axons. Multi-tissue comprised of neurons, dendrites, axon terminals, glial cells, and capillaries.[TAO] AEO:0001012 EHDAA2:0003136 EHDAA2_RETIRED:0004658 EMAPA:37596 FMA:67242 HBA:4006 MA:0001112 NCIT:C32695 OpenCyc:Mx4rwDdKMpwpEbGdrcN5Y29ycA TAO:0002197 UMLS:C0018220 VHOG:0001768 ZFA:0001681 gray matter gray matter of neuraxis grey matter grey matter of neuraxis grey substance neuronal grey matter substantia grisea uberon gray mater grisea UBERON:0002020 gray matter Posterior part of the cerebral hemisphere (MSH) BAMS:OL BAMS:Occipital_lobe BIRNLEX:1136 BTO:0000293 CALOHA:TS-0693 DHBA:12148 EFO:0000915 EV:0100170 FMA:67325 GAID:678 HBA:4180 MAT:0000507 MESH:A08.186.211.730.885.213.571 NCIT:C12355 OpenCyc:Mx4rv9OFy5wpEbGdrcN5Y29ycA UMLS:C0028785 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=140 regio occipitalis uberon lobus occipitalis UBERON:0002021 occipital lobe true 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]. Posterior part of the brain consisting of the cerebellum and medulla oblongata.[AAO] 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] relationship loss: develops_from hindbrain neural tube (TAO:0007043)[TAO] 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] rhombencephalic 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 https://www.ncbi.nlm.nih.gov/pubmed/23810707 AAO:0010150 BAMS:HB BIRNLEX:942 BTO:0000672 CALOHA:TS-0457 DHBA:10653 DMBA:16808 EFO:0000923 EHDAA2:0000746 EHDAA:3514 EHDAA:6487 EMAPA:16916 FMA:67687 MA:0000195 MAT:0000107 MBA:1065 MESH:D012249 MIAA:0000107 NCIT:C40336 TAO:0000029 UMLS:C0035507 UMLS:C1522180 VHOG:0000070 XAO:0000015 ZFA:0000029 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=540 uberon rhombencephalon UBERON:0002028 hindbrain true 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]. Dorsal part of the hindbrain that coordinates muscle movement, posture, and balance.[AAO] 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] 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] cerebellar 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] 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 infratentorial region AAO:0010485 BAMS:CB BAMS:Cb BIRNLEX:1489 BM:CB BTO:0000232 CALOHA:TS-0125 DHBA:10656 EFO:0000327 EHDAA2:0000232 EMAPA:17787 EV:0100293 FMA:67944 GAID:595 HBA:4696 MA:0000198 MAT:0000110 MBA:512 MESH:D002531 MIAA:0000110 NCIT:C12445 OpenCyc:Mx4rvl1eipwpEbGdrcN5Y29ycA TAO:0000100 UMLS:C0007765 UMLS:C1268981 VHOG:0000024 XAO:0003098 ZFA:0000100 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=643 epencephalon-1 uberon corpus cerebelli parencephalon UBERON:0002037 cerebellum true 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]. 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 Part of the telencephalon comprised of anterior outgrowths of either of the cerebral hemispheres in which the olfactory nerve exits.[AAO] Segment of neural tree organ which is continuous with a set of olfactory nerves and an olfactory tract[FMA:77624]. 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] 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] 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 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) 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). https://www.ncbi.nlm.nih.gov/pubmed/26368332 AAO:0010165 BAMS:DLB BAMS:OB BAMS:Olf BIRNLEX:1137 BM:Tel-OB BTO:0000961 CALOHA:TS-0702 DHBA:10307 EHDAA2:0004705 EMAPA:32809 EV:0100173 FMA:77624 GAID:633 HBA:9303 MA:0000194 MESH:A08.186.211.577.699.573 NCIT:C28401 TAO:0000402 UMLS:C0028936 VHOG:0000033 XAO:0004180 ZFA:0000402 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=279 bulbus olfactorius uberon bulbus olfactorius bulbus olfactorius (Morgagni) olfactory lobe olfactory lobe (Barr & Kiernan) UBERON:0002264 olfactory bulb true 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) consider adding class for secondary vesicle precursor Fluid-filled brain cavity. Kimmel et al, 1995.[TAO] relationship loss: develops_from forebrain ventricle (TAO:0001259)[TAO] 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] https://www.ncbi.nlm.nih.gov/pubmed/22091816 BAMS:3V BAMS:V3 BIRNLEX:714 BM:Die-3V CALOHA:TS-2058 DHBA:10602 EHDAA2:0000084 EMAPA:16900 EV:0100308 FMA:78454 GAID:614 HBA:9420 MA:0000182 MBA:129 MESH:D020542 NCIT:C12827 OpenCyc:Mx4rvakhcJwpEbGdrcN5Y29ycA TAO:0000161 UMLS:C0149555 VHOG:0000007 ZFA:0000161 3rd ventricle ventriculus diencephali diencephalic vesicle uberon diencephalic ventricle ventriculus tertius cerebri UBERON:0002286 third ventricle true 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]. Multi-tissue structure that has as its parts the medulla oblongata of the hindbrain and the tegmentum of the midbrain.[TAO] Multi-tissue structure that has as its parts the medulla oblongata of the hindbrain and the tegmentum of the midbrain[ZFA,adopted][ZFA:0001707]. 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] BAMS:BS BIRNLEX:1565 BTO:0000146 CALOHA:TS-0093 EFO:0001962 EMAPA:32678 EV:0100241 FMA:79876 MA:0000169 MBA:343 MESH:D001933 NCIT:C12441 TAO:0002156 UMLS:C0006121 VHOG:0001457 ZFA:0001707 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=236 brain stem truncus encephali uberon accessory medullary lamina of pallidum lamella pallidi incompleta lamina medullaris accessoria lamina medullaris incompleta pallidi lamina pallidi incompleta truncus encephalicus UBERON:0002298 '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). brainstem true A neural nucleus that is part of the brain. EMAPA:35185 FMA:83840 MA:0000811 NCIT:C49346 UMLS:C1706993 ZFA:0005575 brain nucleus uberon brain nuclei UBERON:0002308 nucleus of brain Dorsal part of the midbrain, consisting of the superior and inferior colliculi and the pretectal nuclei (MM). 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] In adult humans it is present only in the mesencephalon as the inferior and the superior colliculi https://www.ncbi.nlm.nih.gov/pubmed/3987648 BAMS:MTec BAMS:Tec BIRNLEX:1032 BM:MB-Tec BTO:0001793 DHBA:12291 EFO:0000920 EHDAA2:0004474 EMAPA:19051 FMA:83902 HBA:9101 MA:0000211 MAT:0000451 NCIT:C12460 TAO:0001353 UMLS:C0039433 VHOG:0001388 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=465 mesencephalic tectum neuraxis tectum tectum tectum mesencephali uberon t. mesencephali tectum mesencephalicum tectum of midbrain UBERON:0002314 midbrain tectum true Neural tissue consisting of myelinated axons connecting grey matter areas of the central nervous system. Cell part cluster consisting predominantly of neurites in the brain and the spinal cord[FMA:83929]. Multi-tissue structure comprised largely of myelinated axons.[TAO] 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] nlx_anat_101177 seems to have been lost in the transition from NIFGA to Neurolex AEO:0000139 AEO:0001011 EMAPA:35927 FMA:83929 HBA:9218 MA:0001135 NCIT:C33892 NLX:412 NLXANAT:101177 OpenCyc:Mx4rwOAsDZwpEbGdrcN5Y29ycA PBA:294022044 TAO:0000145 TAO:0002142 TAO:0002143 UMLS:C0682708 VHOG:0001764 ZFA:0001682 CNS tract/commissure neuronal white matter white matter of neuraxis white substance uberon CNS tracts and commissures CNS white matter substantia alba white mater UBERON:0002316 white matter 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) The largest commissure of the brain connecting the cerebral hemispheres. [TFD][VHOG] 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] 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. https://www.ncbi.nlm.nih.gov/pubmed/28912749 BAMS:CC BAMS:cc BIRNLEX:1087 BM:Tel-CC BTO:0000615 CALOHA:TS-0180 DHBA:10561 EFO:0001390 EMAPA:35253 EV:0100305 FMA:86464 GAID:683 HBA:9222 MA:0000188 MAT:0000286 MBA:776 MESH:A08.186.211.730.885.362 MIAA:0000286 NCIT:C12446 OpenCyc:Mx4rvbNzdZwpEbGdrcN5Y29ycA UMLS:C0010090 VHOG:0001608 uberon UBERON:0002336 corpus callosum https://www.epilepsy.com/learn/professionals/diagnosis-treatment/surgery/corpus-callosotomy https://www.webmd.com/epilepsy/guide/corpus-callosotomy#1 true true true 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]. 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. https://www.ncbi.nlm.nih.gov/pubmed/23671345 BTO:0000235 CALOHA:TS-1149 DHBA:10332 EFO:0000904 FMA:62514 basal ganglion of telencephalon uberon basal ganglia basal nucleus nuclei basales UBERON:0002420 basal ganglion http://www.case.edu/EpSO.owl#TelencephalonBasalGanglion true 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. Fluid-filled brain cavity. Kimmel et al, 1995.[TAO] 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] 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]. 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] https://www.ncbi.nlm.nih.gov/pubmed/22091816 AAO:0011043 BAMS:4V BAMS:V4 BIRNLEX:1256 BM:Pons-4V BTO:0003426 CALOHA:TS-2015 DHBA:10669 DHBA:12805 DMBA:126651782 EHDAA2:0000100 EHDAA:896 EMAPA:16917 EV:0100310 FMA:78469 GAID:610 HBA:9421 MA:0000196 MBA:145 MESH:D020546 NCIT:C12828 OpenCyc:Mx4rv-7Q6pwpEbGdrcN5Y29ycA TAO:0000110 UMLS:C0149556 VHOG:0000006 XAO:0003099 ZFA:0000110 ventricle IV rhombencephalic vesicle uberon 4th ventricle IVth ventricle fourth ventricle proper hindbrain ventricle rhombencephalic ventricle ventricle of hindbrain ventricle of rhombencephalon ventriculus quartus UBERON:0002422 fourth ventricle true 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]. 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 B09-17 BAMS:17 BAMS:V1 BAMS:VISp BIRNLEX:1748 BM:Tel-Cx-V1 BTO:0004703 EMAPA:35708 FMA:236871 FMA:68614 MA:0000914 MBA:385 NCIT:C97340 NLX:143552 PBA:10026 UMLS:C0038446 UMLS:C1272535 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=702 BA17 Brodmann (1909) area 17 Brodmann area 17 Brodmann area 17, striate area 17 of Brodmann-1909 b09-17 striate cortex uberon BA17 Brodmann area 17 V1 area 17 of Brodmann area striata calcarine cortex nerve X occipital visual neocortex primary visual area striate area visual area V1 visual area one visual association area visual association cortex UBERON:0002436 primary visual cortex true A commissure that connects the two cerebral hemispheres. Examples: anterior commissure, corpus callosum. EMAPA:35435 FMA:67930 MA:0002721 uberon commissure of cerebrum inter-hemispheric commissure interhemispheric commissure UBERON:0002473 intercerebral commissure The superior frontal sulcus is a sulcus between the superior frontal gyrus and the middle frontal gyrus. [WP,unvetted]. SFRS https://www.ncbi.nlm.nih.gov/pubmed/31920906 BAMS:sfrs BAMS:sfs BIRNLEX:1030 DHBA:10639 FMA:83755 HBA:9356 NCIT:C33676 UMLS:C0228198 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=61 sulcus f1 sulcus frontalis primus sulcus frontalis superior superior frontal fissure uberon sulcus frontalis superior UBERON:0002562 superior frontal sulcus true true 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). BAMS:PoG BIRNLEX:1070 BTO:0004354 DHBA:12132 EFO:0001383 FMA:61896 HBA:4085 NCIT:C33346 UMLS:C0152302 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=105 gyrus postcentralis postcentral convolution posterior central gyrus postrolandic gyrus uberon gyrus centralis posterior post central gyrus somatosensory cortex UBERON:0002581 postcentral gyrus true The calcarine fissure is an anatomical landmark located at the caudal end of the medial surface of the brain. [WP,unvetted]. CCS https://www.ncbi.nlm.nih.gov/pubmed/26063964 BIRNLEX:1086 BM:Tel-Cx-CAS DHBA:10612 FMA:83749 HBA:9391 NCIT:C32252 UMLS:C0228224 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=44 calcarine fissure sulcus calcarinus uberon fissura calcarina UBERON:0002586 calcarine sulcus true true 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. BIRNLEX:1167 FMA:55676 NCIT:C13031 UMLS:C0445620 anatomical structure of brain biological structure of brain brain anatomical structure brain biological structure brain part neuraxis segment neuroanatomical region segment of brain uberon UBERON:0002616 regional part of brain 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). BAMS:SFG BIRNLEX:1303 BTO:0004836 DHBA:12115 EFO:0001991 FMA:61857 HBA:4021 NCIT:C33674 UMLS:C0152296 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=83 marginal gyrus superior frontal convolution uberon gyrus F1 gyrus frontalis primus gyrus frontalis superior UBERON:0002661 superior frontal gyrus true 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) BAMS:AnG BIRNLEX:1376 DHBA:12136 FMA:61898 HBA:4111 NCIT:C32077 UMLS:C0152305 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=109 middle part of inferior parietal lobule preoccipital gyrus uberon gyrus angularis gyrus parietalis inferior prelunate gyrus UBERON:0002686 angular gyrus true 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). BAMS:SMG BIRNLEX:1381 DHBA:12135 FMA:61897 HBA:4104 NCIT:C33706 UMLS:C0228214 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=108 anterior part of inferior parietal lobule inferior parietal lobule (krieg) uberon BA40 Brodmann area 40 gyrus supramarginalis UBERON:0002688 supramarginal gyrus true 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]. two classes in ncit (in general ncit distinguishes between fissue and sulcus, whereas FMA treats these as exact synonyms) POS https://www.ncbi.nlm.nih.gov/pubmed/26063964 BAMS:pocs BAMS:pos BIRNLEX:1428 BM:Tel-Cx-POS DHBA:10626 FMA:83754 HBA:9392 NCIT:C33275 OpenCyc:Mx4rv7l_DJwpEbGdrcN5Y29ycA UMLS:C0228191 UMLS:C1744592 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=52 ncithesaurus:Parieto-occipital_Sulcus fissura parieto-occipitalis parieto-occipital fissure parieto-occipital incisure parietooccipital sulcus sulcus parieto-occipitalis sulcus parieto-occipitalis medialis sulcus parietoccipitalis sulcus parietooccipitalis uberon fissura parietooccipitalis posterior orbital sulcus sulcus parietooccipitalis UBERON:0002695 parieto-occipital sulcus true true Component of the frontal lobe, lateral aspect (Christine Fennema-Notestine). BAMS:MFG BIRNLEX:1451 BTO:0004834 DHBA:12116 FMA:61859 HBA:4028 NCIT:C33118 UMLS:C0152297 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=84 ncithesaurus:Middle_Frontal_Gyrus gyrus frontalis medialis intermediate frontal gyrus medial frontal gyrus uberon gyrus F2 gyrus frontalis medialis (Winters) gyrus frontalis medius gyrus frontalis secundus medial frontal gyrus (Mai) middle (medial) frontal gyrus UBERON:0002702 middle frontal gyrus true 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]. CGS BAMS:cgs BAMS:cms BIRNLEX:1468 BM:Tel-Cx-CGS DHBA:10615 FMA:83748 HBA:9364 UMLS:C0228189 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=43 calloso-marginal sulcus callosomarginal fissure callosomarginal sulcus cingulate fissure sulcus callosomarginalis sulcus cingulatus sulcus cinguli uberon sulcus cinguli UBERON:0002710 cingulate sulcus true 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]. LS BAMS:lf BAMS:ls BIRNLEX:1487 BM:Tel-Cx-LS DHBA:10621 DHBA:12110 FMA:77801 HBA:9402 NCIT:C32615 UMLS:C0228187 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=49 Sylvian fissure Sylvian sulcus fissura lateralis fissura lateralis cerebri fissura lateralis cerebri (sylvii) fissura transversa cerebri fissure of Sylvius lateral cerebral fissure lateral cerebral sulcus lateral fissure lateral fissure of Sylvius sulcus lateralis sulcus lateralis cerebri transverse cerebral fissure uberon sulcus cerebri lateralis (Sylvii) UBERON:0002721 lateral sulcus true 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). TODO - check area vs complex. MBA:909 this is part of the hippocampal formation via retrohippocampal region 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 ) https://www.ncbi.nlm.nih.gov/pubmed/15857433 BAMS:ENT BAMS:Ent BIRNLEX:1508 BM:Tel-Cx-ENT BTO:0002650 DHBA:10317 DMBA:16102 EFO:0001920 EMAPA:35313 FMA:72356 GAID:636 MA:0003117 MBA:909 MESH:A08.186.211.577.710.225 NCIT:C97338 PBA:294022158 UMLS:C0175196 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=168 entorhinal area uberon Brodmann's area 28 area entorhinalis (28,34) area entorhinalis ventralis et dorsalis cortex entorhinalis entorhinal cortex UBERON:0002728 entorhinal cortex true 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). BAMS:ITG BIRNLEX:1577 BM:Tel-ITG DHBA:12142 FMA:61907 HBA:4147 NCIT:C32791 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=138 ncithesaurus:Inferior_Temporal_Gyrus gyrus temporalis inferior lateral occipitotemporal gyrus (heimer-83) uberon IT cortex gyrus temporalis inferior inferotemporal cortex UBERON:0002751 inferior temporal gyrus true 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). BAMS:STG BIRNLEX:1648 BM:Tel-STG DHBA:12140 EFO:0001944 FMA:61905 HBA:4133 NCIT:C33698 UMLS:C0152309 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=136 ncithesaurus:Superior_Temporal_Gyrus gyrus temporalis superior uberon gyrus temporalis superior UBERON:0002769 superior temporal gyrus true 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). BAMS:MTG BIRNLEX:1653 DHBA:12141 EFO:0002466 FMA:61906 HBA:4140 NCIT:C33125 UMLS:C0152310 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=137 ncithesaurus:Middle_Temporal_Gyrus gyrus temporalis medius intermediate temporal gyrus uberon inferior temporal gyrus (Seltzer) medial temporal gyrus middle (medial) temporal gyrus UBERON:0002771 middle temporal gyrus true 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]. PAO https://www.ncbi.nlm.nih.gov/pubmed/30269938 BAMS:PaOp BAMS:pao BIRNLEX:4029 DHBA:13230 FMA:74889 UMLS:C0228265 UMLS:C1284612 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=96 operculum parietale uberon UBERON:0002911 parietal operculum true 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]. MS BIRNLEX:4030 FMA:83773 UMLS:C0259792 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=98 marginal branch of cingulate sulcus marginal ramus of cingulate sulcus ramus marginalis sulci cingulati ramus marginalis sulci cinguli sulcus marginalis uberon pars marginalis sulci cinguli ramus marginalis; sulcus marginalis UBERON:0002912 marginal sulcus true 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]. ITPS BAMS:ips BAMS:itps BIRNLEX:4031 BM:Tel-Cx-IPS BTO:0003787 DHBA:10620 FMA:83772 HBA:9372 NCIT:C32879 UMLS:C0228213 UMLS:C1281069 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=97 interparietal fissure intraparietal fissure sulcus interparietalis uberon Turner sulcus intraparietal sulcus of Turner sulcus intraparietalis UBERON:0002913 intraparietal sulcus https://link.springer.com/article/10.1186/s42494-019-0005-7 true true 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]. POCS BAMS:pocs BIRNLEX:4033 BM:Tel-Cx-PoCS DHBA:10627 FMA:83774 HBA:9371 NCIT:C33347 UMLS:C0228212 UMLS:C1281070 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=99 postcentral fissure of cerebral hemisphere postcentral fissure-1 postcentral sulcus structure of postcentral sulcus sulcus postcentralis uberon sulcus postcentralis UBERON:0002915 postcentral sulcus of parietal lobe true Portion of frontal lobe that overlaps the insular cortex (adapted from Wikipedia) BAMS:FOp BAMS:fro BIRNLEX:751 DHBA:12127 FMA:74886 HBA:4078 UMLS:C0149547 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2205 uberon nucleus ventralis oralis, pars medialis (Dewulf) opercular region operculum frontale UBERON:0002947 frontal operculum http://www.case.edu/EpSO.owl#FrontalOperculum true 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]. https://www.ncbi.nlm.nih.gov/pubmed/21403025 https://www.ncbi.nlm.nih.gov/pubmed/30100562 BIRNLEX:934 BM:Tel-Cx-Cg BTO:0003975 DHBA:10277 DMBA:16072 EFO:0000343 EMAPA:35242 MA:0000904 NCIT:C52713 UMLS:C0598179 cingulate neocortex uberon gyrus cingulatus gyrus cinguli UBERON:0003027 cingulate cortex http://www.case.edu/EpSO.owl#CingulateSegment true A gray matter that is part of a brain [Automatically generated definition]. EMAPA:35184 MA:0000810 NCIT:C49333 UMLS:C1707348 brain grey matter brain grey substance gray matter of brain grey matter of brain grey substance of brain uberon UBERON:0003528 brain gray matter a part or parts of the hippocampus that have a particular function do not include ABA:HIP BAMS:HIP BAMS:Hi/CA EMAPA:32772 FMA:74041 MA:0002428 hippocampus subdivision subdivision of hippocampus uberon hippocampal region hippocampus region UBERON:0003876 hippocampal field The brain ventricles or their associated choroid plexuses TODO - check relationship between CP and BV. If this is part of then this class should be obsoleted TODO merge into BV uberon UBERON:0003947 brain ventricle/choroid plexus 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 it is not clear if the FMA class refers to CNS or heart ventricles BAMS:IVF BAMS:ivf DHBA:10608 EMAPA:36067 FMA:75351 MBA:124 NCIT:C32627 UMLS:C0016520 foramen Monroi foramen interventriculare interventricular foramen interventricular foramina uberon UBERON:0003993 interventricular foramen of CNS true 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 Organ cavity of the brain which consists of the lateral ventricles, the third and fourth ventricles and the cerebral aqueduct[BIRNLEX:1356]. 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. BIRNLEX:1356 BTO:0001442 EFO:0001914 EMAPA:32674 FMA:78447 HBA:9418 MA:0000818 MESH:D002552 NCIT:C12356 OpenCyc:Mx4rvmTY65wpEbGdrcN5Y29ycA UMLS:C0007799 brain ventricles cerebral ventricle region of ventricular system of brain uberon UBERON:0004086 brain ventricle Any tube, opening or passage that connects two distinct anatomical spaces. FMA has both conduit and conduit space. In EHDAA2 this is a surface feature AEO:0000080 EHDAA2:0003080 FMA:242873 foramen foramina uberon opening ostia ostium UBERON:0004111 anatomical conduit The region of the cerebral cortex covering the basal surface of the frontal lobes; this region normally controls emotion and decision making this is a gyrus in FMA https://www.ncbi.nlm.nih.gov/pubmed/28928072 BIRNLEX:1049 DHBA:10194 EFO:0001990 FMA:242003 UMLS:C0152301 fronto-orbital cortex orbital frontal cortex orbito-frontal cortex uberon Orbitofrontal Region segment of cortex of frontal lobe UBERON:0004167 orbitofrontal cortex true true 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. BAMS:SptP BAMS:spt BIRNLEX:1315 BTO:0003448 DHBA:12098 FMA:61844 MA:0002979 MESH:D012688 NCIT:C33536 UMLS:C0036700 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=256 septal pellucidum septum pellucidum of telencephalic ventricle supracommissural septum uberon lateral septum pellucidum septum gliosum septum lucidum UBERON:0004714 septum pellucidum true 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). 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]. B09-29 BIRNLEX:1763 BTO:0003978 FMA:68626 UMLS:C1272490 B09-29 Brodmann (1909) area 29 Brodmann area 29 Brodmann area 29, granular retrolimbic Brodmann's area 29 area 29 of Brodmann area 29 of Brodmann-1909 area retrolimbica granularis uberon BA29 granular retrolimbic area 29 UBERON:0004717 Brodmann (1909) area 29 true . 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]. B09-26 BIRNLEX:1757 BTO:0003979 FMA:68623 UMLS:C1272489 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1031 B09-26 Brodmann (1909) area 26 Brodmann area 26 Brodmann area 26, ectosplenial area 26 of Brodmann area 26 of Brodmann-1909 area ectosplenialis ectosplenial area uberon BA26 area 26 of Brodmann (guenon) brodmann's area 26 ectosplenial area 26 UBERON:0004718 Brodmann (1909) area 26 true A part of a wall of an organ that forms a layer. FMA:82485 uberon UBERON:0004923 organ component layer A structure consisting of multiple cell components but which is not itself a cell and does not have (complete) cells as a part. 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.' AAO:0011000 CARO:0001000 FBbt:00007060 FMA:83115 multi-cell-component structure multi-cell-part structure uberon cell part cluster UBERON:0005162 multi cell part structure 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]. EMAPA:37844 NLX:147892 dorsal commissure uberon UBERON:0005340 dorsal telencephalic commissure A layer in the central nervous system that lines system of communicating cavities in the brain and spinal cord. EMAPA:35209 FMA:242770 ventricular layer uberon region of wall of ventricular system of neuraxis UBERON:0005358 ventricle of nervous system A gray matter that is part of a cerebral hemisphere. BTO may actually be a more generic structure; FMA may represent a more specific structure. Consider merging with gray matter of telencephalon BTO:0000823 CALOHA:TS-2361 EMAPA:37477 FMA:61821 MA:0000944 cerebral gray matter cerebral grey matter cerebral hemisphere grey matter uberon UBERON:0005401 cerebral hemisphere gray matter FMA:10483 bone organ zone uberon UBERON:0005913 zone of bone organ any of the nerve fiber tracts that span the longitudinal fissure between the cerebral and/or cerebellar hemispheres of the brain any of the nerve fiber tracts that span the longitudinal fissure between the cerebral and/or cerebellar hemispheres of the brain[MP] EMAPA:37446 uberon UBERON:0005970 brain commissure 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). https://www.ncbi.nlm.nih.gov/pubmed/21925841 BIRNLEX:1194 DHBA:12134 EFO:0001951 FMA:77536 HBA:4103 UMLS:C0152304 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=107 inferior parietal cortex inferior parietal lobule uberon inferior parietal gyrus inferior portion of parietal gyrus lobulus parietalis inferior subparietal district subparietal lobule UBERON:0006088 inferior parietal cortex true 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). BAMS:Cun BIRNLEX:1396 DHBA:12150 FMA:61903 HBA:4184 UMLS:C0152307 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=157 cuneate lobule cuneus cuneus cortex cuneus gyrus cuneus of hemisphere uberon gyrus cuneus UBERON:0006092 cuneus cortex true 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). BAMS:PCu BAMS:PCun BIRNLEX:1446 DHBA:12137 FMA:61900 HBA:4118 NCIT:C112399 UMLS:C0152306 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=110 precuneate lobule precuneus precuneus cortex quadrate lobule uberon medial area of the superior parietal cortex praecuneus UBERON:0006093 precuneus cortex true 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 UBERON:0013574 B09-41 BIRNLEX:1582 BIRNLEX:1774 FMA:68638 UMLS:C1272502 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=95 B09-41 BA41 Brodmann (1909) area 41 Brodmann area 41 Brodmann area 41, anterior transverse temporal Brodmann's area 41 anterior transverse temporal area 41 anterior transverse termporal area 41 area 41 of Brodmann area 41 of Brodmann-1909 area temporalis transversa anterior principle auditory receptive areas uberon UBERON:0006095 anterior transverse temporal area 41 true 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 UBERON:0013575 B09-42 BIRNLEX:1589 BIRNLEX:1775 FMA:236867 FMA:68639 UMLS:C1272506 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=96 B09-42 BA42 Brodmann (1909) area 42 Brodmann area 42 Brodmann area 42, posterior transverse temporal Brodmann's area 42 area 42 of Brodmann area 42 of Brodmann-1909 area temporalis transversa posterior auditory association area posterior transverse temporal area 42 posterior transverse termporal area 42 uberon auditory association cortex UBERON:0006096 posterior transverse temporal area 42 true . B09-1 BIRNLEX:1732 FMA:68597 UMLS:C1272523 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1022 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 ). B09-1 BA1 Brodmann (1909) area 1 Brodmann area 1 Brodmann's area 1 area 1 of Brodmann area 1 of Brodmann-1909 area postcentralis intermedia intermediate postcentral intermediate postcentral area uberon area 1 of Brodmann (guenon) UBERON:0006099 Brodmann (1909) area 1 true 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 ). http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2391 . B09-3 BIRNLEX:1734 FMA:68599 UMLS:C1272525 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1006 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 ). B09-3 BA3 Brodmann (1909) area 3 Brodmann area 3 Brodmann's area 3 area 3 of Brodmann area 3 of Brodmann-1909 area postcentralis oralis rostral postcentral rostral postcentral area uberon area 3 of Brodmann (guenon) UBERON:0006100 Brodmann (1909) area 3 true 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 ). http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2393 . B09-24 BAMS:ACA BIRNLEX:1755 FMA:68621 MBA:31 UMLS:C1272542 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1007 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 ). B09-24 BA24 Brodmann (1909) area 24 Brodmann area 24 area 24 of Brodmann area 24 of Brodmann-1909 area cingularis anterior ventralis ventral anterior cingulate uberon agranular cingulate area anterior cingulate area area 24 of Brodmann-1905 (guenon) brodmann's area 24 gyrus limbicus anterior UBERON:0006101 Brodmann (1909) area 24 true 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 ). http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2113 Brodmann area 35, together with Brodmann area 36, is most frequently referred to as perirhinal cortex. 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). B09-35 BIRNLEX:1768 BTO:0004356 FMA:68632 UMLS:C1272496 B09-35 BA35 Brodmann (1909) area 35 Brodmann area 35 Brodmann area 35, perirhinal Brodmann's area 35 area 35 of Brodmann area 35 of Brodmann-1909 area perirhinalis perirhinal area 35 uberon UBERON:0006102 Brodmann (1909) area 35 true 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. B09-36 BIRNLEX:1769 BTO:0004357 DMBA:16086 FMA:68633 UMLS:C1272497 B09-36 BA36 Brodmann (1909) area 36 Brodmann area 36 area 36 of Brodmann area 36 of Brodmann-1909 area ectorhinalis ectorhinal ectorhinal area 36 uberon UBERON:0006104 Brodmann (1909) area 36 true Brodmann area 5 is one of Brodmann's cytologically defined regions of the brain. It is involved in somatosensory processing and association. B09-5 BIRNLEX:1736 FMA:68601 UMLS:C1272527 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1015 B09-5 BA5 Brodmann (1909) area 5 Brodmann area 5 Brodmann area 5, preparietal area 5 of Brodmann-1909 area praeparietalis preparietal area 5 uberon area 5 of Brodmann area 5 of Brodmann (guenon) brodmann's area 5 preparietal area preparietal area 5 secondary somatosensory cortex UBERON:0006471 Brodmann (1909) area 5 true 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). B09-6 BIRNLEX:1737 FMA:68602 UMLS:C1272528 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1020 B09-6 BA6 Brodmann (1909) area 6 Brodmann area 6 Brodmann area 6, agranular frontal agranular frontal area 6 area 6 of Brodmann area 6 of Brodmann-1909 area frontalis agranularis frontal belt uberon agranular frontal area agranular frontal area 6 area 6 of Brodmann (guenon) brodmann's area 6 UBERON:0006472 Brodmann (1909) area 6 true . B09-18 BIRNLEX:1749 DHBA:10271 FMA:68615 PBA:10039 UMLS:C1272536 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1027 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 ). B09-18 BA18 Brodmann (1909) area 18 Brodmann area 18 Brodmann area 18, parastriate Brodmann's area 18 area 18 of Brodmann area 18 of Brodmann-1909 area parastriata parastriate area 18 secondary visual area visual area II uberon V2 area 18 of Brodmann (guenon) area occipitalis occipital area visual area two UBERON:0006473 Brodmann (1909) area 18 true 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 ). http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2109 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). B09-30 BIRNLEX:1764 FMA:68627 UMLS:C1272491 B09-30 BA30 Brodmann (1909) area 30 Brodmann area 30 Brodmann area 30, agranular retrolimbic Brodmann's area 30 agranular retrolimbic area 30 area 30 of Brodmann area 30 of Brodmann-1909 area retrolimbica agranularis area retrosplenialis agranularis uberon UBERON:0006474 Brodmann (1909) area 30 true 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). B09-31 BIRNLEX:1765 FMA:68628 UMLS:C1272492 B09-31 BA31 Brodmann (1909) area 31 Brodmann area 31 Brodmann area 31, dorsal posterior cingulate Brodmann's area 31 area 31 of Brodmann area 31 of Brodmann-1909 area cingularis posterior dorsalis cinguloparietal transition area dorsal posterior cingulate area 31 uberon UBERON:0006475 Brodmann (1909) area 31 true 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). B09-33 BIRNLEX:1766 FMA:68630 UMLS:C1272494 B09-33 BA33 Brodmann (1909) area 33 Brodmann area 33 Brodmann area 33, pregenual Brodmann's area 33 area 33 of Brodmann area 33 of Brodmann-1909 area praegenualis pregenual area 33 uberon UBERON:0006476 Brodmann (1909) area 33 true 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. B09-34 BIRNLEX:1767 FMA:68631 UMLS:C1272495 B09-34 BA34 Brodmann (1909) area 34 Brodmann area 34 Brodmann area 34, dorsal entorhinal area 34 of Brodmann area 34 of Brodmann-1909 area entorhinalis dorsalis dorsal entorhinal area 34 uberon UBERON:0006477 Brodmann (1909) area 34 true 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). B09-37 BIRNLEX:1770 FMA:68634 UMLS:C1272498 B09-37 BA37 Brodmann (1909) area 37 Brodmann area 37 Brodmann area 37, occipitotemporal area 37 0f brodmann area 37 of Brodmann-1909 area occipitotemporalis occipitotemporal area 37 uberon UBERON:0006478 Brodmann (1909) area 37 true 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. [ B09-38 BIRNLEX:1771 FMA:68635 UMLS:C1272499 B09-38 BA38 Brodmann (1909) area 38 Brodmann area 38 Brodmann area 38, temporopolar area 38 of Brodmann area 38 of Brodmann-1909 area temporopolaris temporopolar area 38 uberon UBERON:0006479 Brodmann (1909) area 38 true . B09-39 BIRNLEX:1772 FMA:68636 UMLS:C1272500 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 ). B09-39 BA39 Brodmann (1909) area 39 Brodmann area 39 Brodmann area 39, angular angular area 39 area 39 of Brodmann area 39 of Brodmann-1909 area angularis uberon UBERON:0006480 Brodmann (1909) area 39 true 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 ). http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2409 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). B09-44 BIRNLEX:1776 FMA:68641 UMLS:C1272509 B09-44 BA44 Brodmann (1909) area 44 Brodmann area 44 Brodmann area 44, opercular area 44 of Brodmann area 44 of Brodmann-1909 area opercularis opercular area 44 uberon UBERON:0006481 Brodmann (1909) area 44 true 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) 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]. B09-45 BA45 BIRNLEX:1777 FMA:68642 UMLS:C1272511 B09-45 BA45 Brodmann (1909) area 45 Brodmann area 45 Brodmann area 45, triangular area 45 of Brodmann area 45 of Brodmann-1909 area triangularis triangular area 45 uberon UBERON:0006482 Brodmann (1909) area 45 true 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) B09-46 BIRNLEX:1778 FMA:68643 UMLS:C1272512 B09-46 BA46 Brodmann (1909) area 46 Brodmann area 46 Brodmann area 46, middle frontal area 46 of Brodmann area 46 of Brodmann-1909 area frontalis media middle frontal area 46 uberon area 46 middle frontal area 46 UBERON:0006483 Brodmann (1909) area 46 true 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. B09-47 BIRNLEX:1779 FMA:68644 UMLS:C1272513 B09-47 BA47 Brodmann (1909) area 47 Brodmann area 47 Brodmann area 47, orbital area 47 of Brodmann area 47 of Brodmann-1909 area orbitalis orbital area 47 uberon UBERON:0006484 Brodmann (1909) area 47 true GAID:1233 uberon optic lobe UBERON:0006794 This grouping class is primarily to accommodate GO visual processing part of nervous system 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. BAMS:OrG FMA:256194 orbital gyri uberon gyrus orbitales UBERON:0007193 orbital gyrus true Gray matter of the central nervous system which is a collection of clustered nuclei. FMA:256381 FMA:84059 uberon cluster of neural nuclei neural nuclei nuclear complex UBERON:0007245 nuclear complex of neuraxis An axon tract that is part of a brain. 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 FMA:83848 brain tract uberon landmark tracts UBERON:0007702 tract of brain FMA:75759 uberon UBERON:0008334 subarachnoid sulcus Area of the parietal lobe concerned with receiving general sensations. It lies posterior to the central sulcus. TODO - add layers TODO - add relationship to system (not part of, as sensory systems are peripheral) BAMS:SS BTO:0004353 EFO:0001391 FMA:242642 GAID:681 MBA:453 MESH:A08.186.211.730.885.213.670.675 somatic sensory cortex uberon primary somatic sensory cortex somatic sensory cortex somatosensory area somatosensory areas somesthetic area UBERON:0008930 somatosensory cortex (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). ABA disjointness - Removed relationship: part_of UBERON:0001870 frontal cortex S1 BAMS:S1 BAMS:SSp DHBA:10209 EMAPA:35706 MA:0000908 MBA:322 NLX:143551 primary somatosensory cortex (area S1, areas 3,1,2) somatosensory area 1 uberon S1C postcentral gyrus primary somatosensory area UBERON:0008933 primary somatosensory cortex true the area of the upper bank of the lateral sulcus that is involved in somatic sensation TODO - check brodmann S2 https://www.ncbi.nlm.nih.gov/pubmed/26295917 BAMS:S2 BAMS:SSs EMAPA:35756 MA:0000918 MBA:378 somatosensory area 2 uberon supplemental somatosensory area UBERON:0008934 secondary somatosensory cortex true 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 check dorsolateral prefrontal neocortex DHBA:10173 FMA:276189 uberon UBERON:0009834 dorsolateral prefrontal cortex true An anatomical structure that has more than one cell as a part. CARO:0010000 FBbt:00100313 multicellular structure uberon UBERON:0010000 multicellular anatomical structure A multi cell part structure that is part of a central nervous system. FMA:83143 cell part cluster of neuraxis neuraxis layer uberon UBERON:0011215 central nervous system cell part cluster A subdivision of an anatomical system. FBbt:00007330 FMA:67509 uberon UBERON:0011216 organ system subdivision A portion of gray matter that is part of a telencephalon. UBERON:0024186 BIRNLEX:1067 FMA:83911 predominantly gray regional part of telencephalon uberon UBERON:0011300 gray matter of telencephalon 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. 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 Indentation on the surface of the brain or spinal cord that forms a recognizable landmark, e.g., central sulcus, sulcus limitans (CUMBO) sulci & spaces sulcus DHBA:10610 HBA:9352 NCIT:C32292 cerebral sulci fissure of brain uberon cerebral sulci cerebral sulcus UBERON:0013118 sulcus of brain Brodmann area 11 is one of Brodmann's cytologically defined regions of the brain. It is involved in planning, reasoning, and decision making. B09-11 area praefrontalis BIRNLEX:1742 FMA:68608 UMLS:C1272533 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1036 B09-11 Brodmann (1909) area 11 Brodmann area 11, prefrontal area 11 of Brodmann area 11 of Brodmann-1909 medial orbital area uberon BA11 area 11 of Brodmann area 11 of Brodmann (guenon) area orbitalis interna brodmann's area 11 prefrontal area 11 UBERON:0013528 Brodmann (1909) area 11 true 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) BAMS:VTM BIRNLEX:1731 FMA:68596 NCIT:C94868 WikipediaCategory:Brodmann_areas http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1032 uberon Brodmann parcellation scheme region Brodmann partition scheme region Brodmann's areas UBERON:0013529 Brodmann area B09-2 BIRNLEX:1733 FMA:68598 UMLS:C1272524 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1033 B09-2 Brodmann (1909) area 2 Brodmann area 2 Brodmann area 2, caudal postcentral Brodmann's area 2 area 2 of Brodmann area 2 of Brodmann-1909 area postcentralis caudalis caudal postcentral area uberon BA2 area 2 of Brodmann (guenon) postcentral gyrus UBERON:0013533 Brodmann (1909) area 2 true 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. B09-4 BIRNLEX:1735 FMA:68600 UMLS:C1272526 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1014 B09-4 Brodmann (1909) area 4 Brodmann area 4 Brodmann area 4, gigantopyramidal Brodmann's area 4 area 4 of Brodmann area 4 of Brodmann-1909 area gigantopyramidalis giant pyramidal area uberon BA4 area 4 of Brodmann (guenon) UBERON:0013535 Brodmann (1909) area 4 true 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. B09-7 BIRNLEX:1738 FMA:68604 UMLS:C1272529 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=85 B09-7 Brodmann (1909) area 7 Brodmann area 7 Brodmann area 7, superior parietal area 7 of Brodmann area 7 of Brodmann-1909 area parietalis superior uberon BA7 gyrus F3 gyrus frontalis tertius regio subfrontalis UBERON:0013538 Brodmann (1909) area 7 true Brodmann area 8 is one of Brodmann's cytologically defined regions of the brain. It is involved in planning complex movements. B09-8 BIRNLEX:1739 FMA:68605 UMLS:C1272530 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1034 B09-8 Brodmann (1909) area 8 Brodmann area 8 Brodmann area 8, intermediate frontal area 8 of Brodmann area 8 of Brodmann-1909 area frontalis intermedia intermediate frontal area uberon BA8 area 8 of Brodmann (guenon) brodmann's area 8 UBERON:0013539 Brodmann (1909) area 8 true . B09-9 BIRNLEX:1740 FMA:68606 UMLS:C1272531 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1024 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 ). B09-9 Brodmann (1909) area 9 Brodmann area 9 Brodmann area 9, granular frontal area 9 of Brodmann area 9 of Brodmann-1909 area frontalis granularis granular frontal area uberon BA9 area 9 of Brodmann (guenon) brodmann's area 9 UBERON:0013540 Brodmann (1909) area 9 true 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 ). http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=2398 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. B09-10 BAMS:ros BIRNLEX:1741 DHBA:146034836 FMA:68607 UMLS:C1272532 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=76 B09-10 Brodmann (1909) area 10 Brodmann area 10 Brodmann area 10, frontoplar area 10 of Brodmann area 10 of Brodmann-1909 area frontopolaris lateral orbital area uberon BA10 rostral sulcus sulcus rectus sulcus rectus (Krieg) UBERON:0013541 Brodmann (1909) area 10 true 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). UBERON:0013530 B09-12 area praefrontalis BIRNLEX:1743 FMA:68609 UMLS:C1272534 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=77 B09-12 Brodmann (1909) area 12 Brodmann area 12 Brodmann area 12, prefrontal area 12 of Brodmann area 12 of Brodmann-1909 area praefrontalis frontopolar area uberon BA12 sulcus fronto-orbitalis UBERON:0013543 Brodmann (1909) area 12 true 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). B09-19 BIRNLEX:1750 FMA:68616 UMLS:C1272537 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1028 B09-19 Brodmann (1909) area 19 Brodmann area 19 Brodmann area 19, peristriate Brodmann's area 19 area 19 of Brodmann area 19 of Brodmann-1909 area peristriata preoccipital area uberon BA19 area 19 of Brodmann (guenon) area praeoccipitalis UBERON:0013550 Brodmann (1909) area 19 true 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]. B09-21 BIRNLEX:1752 FMA:68618 UMLS:C1272539 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1016 B09-21 BA21 Brodmann (1909) area 21 Brodmann area 21 Brodmann area 21, middle temporal area 21 of Brodmann area 21 of Brodmann-1909 uberon area 21 of Brodmann (guenon) area temporalis media brodmann's area 21 UBERON:0013552 Brodmann (1909) area 21 true Brodmann area 22 is one of Brodmann's cytologically defined regions of the brain. It is involved in auditory processing. B09-22 BIRNLEX:1753 FMA:68619 UMLS:C1272540 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1017 B09-22 Brodmann (1909) area 22 Brodmann area 22 Brodmann area 22, superior temporal Superior temporal area area 22 of Brodmann area 22 of Brodmann-1909 area temporalis superior uberon BA22 area 22 of Brodmann (guenon) brodmann's area 22 UBERON:0013553 Brodmann (1909) area 22 true 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 B09-23 BIRNLEX:1754 FMA:68620 UMLS:C1272541 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1018 B09-23 Brodmann (1909) area 23 Brodmann area 23 Brodmann area 23, ventral posterior cingulate area 23 of Brodmann area 23 of Brodmann-1909 area cingularis posterior ventralis granular cingulate area posterior cingulate area uberon BA23 area 23 of Brodmann (guenon) area cingularis posterior brodmann's area 23 ventral posterior cingulate area UBERON:0013554 Brodmann (1909) area 23 true 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. B09-25 BIRNLEX:1756 FMA:68622 UMLS:C1272543 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1029 B09-25 Brodmann (1909) area 25 Brodmann area 25 Brodmann area 25, subgenual Brodmann's area 25 area 25 of Brodmann area 25 of Brodmann-1909 area subgenualis uberon BA25 area 25 of Brodmann (guenon) UBERON:0013556 Brodmann (1909) area 25 true 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]. B09-27 BIRNLEX:1758 FMA:68624 UMLS:C0175194 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1039 B09-27 BA27 Brodmann (1909) area 27 Brodmann area 26, presubicular Brodmann area 27 area 27 area 27 of Brodmann area 27 of Brodmann-1909 area praesubicularis presubicular area uberon area 27 of Brodmann (guenon) brodmann's area 27 UBERON:0013558 Brodmann (1909) area 27 true . B09-28 https://www.ncbi.nlm.nih.gov/pubmed/10775518 BIRNLEX:1759 FMA:68625 UMLS:C0598377 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1030 B09-28 BA28 Brodmann (1909) area 28 Brodmann area 28 Brodmann area 28, entorhinal area 28 of Brodmann area 28 of Brodmann (Crosby) area 28 of Brodmann-1909 area entorhinalis area entorhinalis ventralis uberon area 28 of Brodmann (guenon) UBERON:0013559 Brodmann (1909) area 28 true 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. B09-32 BIRNLEX:1760 EMAPA:36447 FMA:68629 MBA:972 UMLS:C1272493 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=1021 B09-32 Brodmann (1909) area 32 Brodmann area 32 Brodmann area 32, dorsal anterior cingulate Prelimbic area area 32 of Brodmann area 32 of Brodmann-1909 area cingularis anterior dorsalis uberon BA32 area 25 of Brodmann-1905 area 32 of Brodmann (guenon) area praelimbica brodmann's area 32 UBERON:0013560 Brodmann (1909) area 32 true 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]. B09-40 BIRNLEX:1773 FMA:68637 UMLS:C1272501 B09-40 Brodmann (1909) area 40 Brodmann area 40 Brodmann area 40, supramarginal Supramarginal area 40 area 40 of Brodmann area 40 of Brodmann-1909 area supramarginalis uberon UBERON:0013573 Brodmann (1909) area 40 true A gyrus that is part of a occipital lobe. BAMS:OG BIRNLEX:747 UMLS:C1110642 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=152 uberon gyrus occipitalis UBERON:0014640 occipital gyrus A gyrus that is part of a frontal cortex. NCIT:C32636 uberon UBERON:0015593 frontal gyrus 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. Many species don't have lobes but they do have frontal cortex. Lobe isn't a really well defined term though frontal region regio frontalis BAMS:Frontal_lobe BIRNLEX:928 BM:Tel-Cx-FR CALOHA:TS-0389 DHBA:12113 EFO:0000913 EV:0100167 FMA:61824 HBA:4009 MAT:0000505 MESH:A08.186.211.730.885.213.270 NCIT:C12352 OpenCyc:Mx4rv3OJ8JwpEbGdrcN5Y29ycA UMLS:C0016733 UMLS:C1268977 http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=56 lobi frontales lobus frontalis frontal cortex uberon UBERON:0016525 frontal lobe http://www.case.edu/EpSO.owl#FrontalLobe true 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]. UBERON:0000322 BIRNLEX:922 BTO:0000445 FMA:61823 cerebral hemisphere lobe cerebral lobe lobe of cerebral cortex lobe parts of cerebral cortex lobi cerebri uberon cerebral cortical segment lobes of the brain regional organ part of cerebral cortex segment of cerebral cortex UBERON:0016526 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. lobe of cerebral hemisphere Grey matter neocortex region of a lobe of the cerebral hemisphere. FMA:242197 cortex of cerebral hemisphere lobe cortex of lobe of cerebral hemisphere uberon gray matter of lobe of cerebral hemisphere neocortical part of cerebral hemisphere UBERON:0016529 cortex of cerebral lobe 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. https://www.ncbi.nlm.nih.gov/pubmed/29519472 DHBA:10208 DMBA:16016 EMAPA:35667 FMA:242203 MA:0000916 NLX:79282 cortex of parietal lobe parietal lobe cortex parietal neocortex uberon gray matter of parietal lobe UBERON:0016530 parietal cortex true A layer of of the central nervous system that is part of gray matter. grey matter layer FMA:83142 CNS gray matter layer CNS grey matter layer gray matter layer of neuraxis grey matter layer of neuraxis uberon UBERON:0016548 central nervous system gray matter layer 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. DHBA:10168 FMA:224852 MBA:993 premotor cortex (area 6) uberon intermediate precentral cortex nonprimary motor cortex premotor premotor area premotor cortex premotor region promotor cortex secondary motor areas secondary motor cortex secondary somatomotor areas UBERON:0016634 premotor cortex true DHBA:10157 FMA:268608 uberon UBERON:0019264 gray matter of forebrain HBA:9220 telencephalic commissures uberon UBERON:0019294 commissure of telencephalon HBA:9386 NCIT:C33196 occipital lobe sulcus uberon UBERON:0019303 occipital sulcus Single layer of a laminar structure, identified by different density, arrangement or size of cells and processes arranged in flattened layers or lamina[CUMBO]. 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 lamina layer NLX:149357 uberon UBERON:0022303 nervous system cell part layer BIRNLEX:1304 composite part spanning multiple base regional parts of brain uberon UBERON:0022776 composite part spanning multiple base regional parts of brain 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.). https://www.ncbi.nlm.nih.gov/pubmed/3987648 BIRNLEX:1031 tegmentum uberon UBERON:0024151 tegmentum true https://www.ncbi.nlm.nih.gov/pubmed/26063964 BIRNLEX:4014 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. superior calcarine sulcus uberon sulcus calcarinus superior superior ramus of calcarine fissure upper calcarine sulcus UBERON:0025096 superior calcarine sulcus true 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. http://braininfo.rprc.washington.edu/centraldirectory.aspx?ID=147 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. DHBA:10236 FMA:272953 primary auditory cortex (core) uberon A1C auditory complex area A1 auditory core region primary auditory area primary auditory cortex UBERON:0034751 primary auditory cortex true The part of the auditory cortex that receive more diffuse input from the belt areas of the medial geniculate complex. https://www.ncbi.nlm.nih.gov/pubmed/11377839 DHBA:10239 FMA:272944 belt auditory area peripheral auditory cortex second auditory area secondary auditory cortex (belt, area 42) uberon A42 belt area of auditory complex second auditory area second auditory cortex UBERON:0034752 secondary auditory cortex true A part of an organism or organ that is continuous with its surroundings and distinguished from its surroundings based on morphology. uberon UBERON:0034768 morphological feature A collection of anatomical structures that are alike in terms of their morphology or developmental origin. resolve if this should be a subclass of disconnected anatomical group. Some collections (e.g. the skeleton or skull) are arguably connected uberon UBERON:0034925 anatomical collection FMA:55268 organ sector organ zonal region organ zone uberon organ region with floating fiat boundary UBERON:0034944 zone of organ A brain region defined by functional criteria, e.g. auditory cortex, rather than by structural or histological criteria. NLX:155513 uberon UBERON:0035014 functional part of brain HBA:9370 parietal lobe sulci parietal lobe sulcus uberon PLs UBERON:0035927 sulcus of parietal lobe 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. BTO:0005601 FMA:77534 RadLex:RID6449 Talairach:1047 lobulus paracentralis uberon UBERON:0035933 paracentral lobule true true Non-invasive methods of visualizing and measuring the CENTRAL NERVOUS SYSTEM, especially the brain, by various imaging modalities e.g. CT scan Dani Welter true brain imaging is about MSH:D059906 neuroimaging measurement quantification of the pattern of links between distinct units within a nervous system through neuroimaging techniques such a MRI Dani Welter true brain connectivity measurement https://www.ncbi.nlm.nih.gov/pubmed/18209276 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. self-rating anxiety scale Zung self-rating anxiety scale true 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. https://www.statisticssolutions.com/zung-self-rating-anxiety-scale-sas/ 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. risk factor TM_BIN 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. diagnosis TM_BIN 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. sign and symptom TM_BIN 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 syndrome TM_BIN 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. epilepsy imitator TM_BIN 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. etiology TM_BIN 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. seizure classification TM_BIN 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. treatment TM_BIN 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. anatomical entity TM_BIN 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. cellular process TM_BIN connectivity functional connectivity Functional connectivity is defined as the temporal dependency of neuronal activation patterns of anatomically separated brain regions. brain functional connectivity brain connectivity seizure event seizure network epileptic seizure network brain functional connectivity network functional connectivity measure global connectivity measure brain functional connectivity measure https://pubmed.ncbi.nlm.nih.gov/21447894/ preictal Preictal psychiatric symptoms usually consist of cluster of symptoms preceding seizures of variable duration, ranging from a few minutes up to three days. pre-ictal https://pubmed.ncbi.nlm.nih.gov/32174810/ stereotactic EEG Stereotactic electroencephalogaphy (sEEG) utilizes localized, penetrating depth electrodes to measure electrophysiological brain activity. stereotactic electroencephalogaphy https://pubmed.ncbi.nlm.nih.gov/21447894/ interictal 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). inter-ictal https://pubmed.ncbi.nlm.nih.gov/22460695/ The intracranial electrode is used for interacranial monitoring: depth electrodes, subdural strip electrodes, and subdural grid electrodes. intracranial electrode 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. automotor seizure multi-contact electrode 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. AMPA receptor antibody true 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. https://www.epilepsydiagnosis.org/aetiology/antibody-mediated-overview.html#ampa https://www.ncbi.nlm.nih.gov/pubmed/29960852 The Atkins diet is a low-carb diet, usually recommended for weight loss. Atkins diet http://purl.bioontology.org/ontology/SNOMEDCT/407667003 true The Atkins diet is a low-carb diet, usually recommended for weight loss. https://www.healthline.com/nutrition/atkins-diet-101 https://www.ncbi.nlm.nih.gov/pubmed/11684349 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. El mice El mouse true 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. https://www.ncbi.nlm.nih.gov/pubmed/2498069 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. GABA-B receptor antibody true 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. https://www.epilepsydiagnosis.org/aetiology/antibody-mediated-overview.html#gabab 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. GAD65 antibody true 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. https://www.epilepsydiagnosis.org/aetiology/antibody-mediated-overview.html#gad65 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. ILAE classification International League Against Epilepsy classification 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. https://www.ilae.org/guidelines/definition-and-classification/operational-classification-2017 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. K complex https://emedicine.medscape.com/article/1139332-overview#a1 true 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. https://bioportal.bioontology.org/ontologies/ESSO/?p=classes&conceptid=http%3A%2F%2Fwww.semanticweb.org%2Frjyy%2Fontologies%2F2015%2F5%2FESSO%23K_Complex&jump_to_nav=true https://www.ncbi.nlm.nih.gov/pubmed/1834893 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. N-methyl-DL-aspartate model Modified definition true 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. Panayiotopoulos syndrome true 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. https://www.epilepsydiagnosis.org/syndrome/panayiotopoulos-overview.html https://www.ncbi.nlm.nih.gov/pubmed/25568300 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. SCN8A-Related Epilepsy syndromes Class SCN8A-related epilepsy with encephalopathy true 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. https://ghr.nlm.nih.gov/condition/scn8a-related-epilepsy-with-encephalopathy 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. SREDA https://www.ncbi.nlm.nih.gov/books/NBK390352/ subclinical rhythmical discharge of adults http://www.case.edu/EpSO.owl#SubclinicalRhythmicElectrographicDischargesinAdult 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. https://bioportal.bioontology.org/ontologies/EPSO/?p=classes&conceptid=http%3A%2F%2Fwww.case.edu%2FEpSO.owl%23SubclinicalRhythmicElectrographicDischargesinAdult&jump_to_nav=true Vertex sharp transient. V wave https://emedicine.medscape.com/article/1139332-overview#a1 true Vertex sharp transient. https://bioportal.bioontology.org/ontologies/ESSO/?p=classes&conceptid=http%3A%2F%2Fwww.semanticweb.org%2Frjyy%2Fontologies%2F2015%2F5%2FESSO%23V_Wave&jump_to_nav=true https://www.ncbi.nlm.nih.gov/pubmed/31044310 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. Intracarotid Amobarbital Procedure Wada test true 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. http://epilepsyontario.org/wada-test/ https://www.ncbi.nlm.nih.gov/pubmed/25228809 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. absence seizure model Modified definition true A rotation of the eyes, head, or trunk about the long axis of the body adversive movement true A rotation of the eyes, head, or trunk about the long axis of the body https://medical-dictionary.thefreedictionary.com/adversive+movement 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 afterdischarges model true 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 https://www.ncbi.nlm.nih.gov/pubmed/25228809 https://www.ncbi.nlm.nih.gov/pubmed/25845493 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. allylglycine model Modified definition true Alpha coma / Alpha stupor (AS) refers to EEG of a comatose/stuporous patient in which alpha activity predominates. alpha stupor alpha coma http://www.case.edu/EpSO.owl#AlphaComa Alpha coma / Alpha stupor (AS) refers to EEG of a comatose/stuporous patient in which alpha activity predominates. https://bioportal.bioontology.org/ontologies/EPSO/?p=classes&conceptid=http%3A%2F%2Fwww.case.edu%2FEpSO.owl%23AlphaComa&jump_to_nav=true https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5603104/ 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 rhythm http://www.case.edu/EpSO.owl#AlphaRhythm https://emedicine.medscape.com/article/1139332-overview#a1 true 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 https://bioportal.bioontology.org/ontologies/EPSO/?p=classes&conceptid=http%3A%2F%2Fwww.case.edu%2FEpSO.owl%23AlphaRhythm&jump_to_nav=true 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. alpha variant http://www.case.edu/EpSO.owl#AlphaVariant https://neurology.mhmedical.com/content.aspx?bookid=1042&sectionid=59078723#1101635347 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. https://bioportal.bioontology.org/ontologies/EPSO/?p=classes&conceptid=http%3A%2F%2Fwww.case.edu%2FEpSO.owl%23AlphaVariant&jump_to_nav=true 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. encephalopathy aluminum aluminum encephalopathy syndrome true 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. https://www.epilepsy.com/learn/professionals/co-existing-disorders/renal-disorders/aluminum-encephalopathy-syndrome 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. Portable EEG ambulatory EEG ambulatory electroencephalography https://www.epilepsysociety.org.uk/eeg-electroencephalogram#.XFE6tFwzbIU true 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. https://www.nhs.uk/conditions/electroencephalogram/ 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. amgdalar epilepsy http://www.case.edu/EpSO.owl#AmgdalarEpilepsy 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. https://www.ncbi.nlm.nih.gov/pubmed/29934574 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. amnestic seizure http://www.case.edu/EpSO.owl#AmnesticSeizure 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. https://www.ncbi.nlm.nih.gov/pubmed/1628200 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. amygdala kindling true 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. https://www.ncbi.nlm.nih.gov/pubmed/27445726 Use of neuroimaging technology to measure the aspect of brain anatomy, including the integrity of brain structures and their interconnections. anatomic neuroimaging https://www.apa.org/action/resources/research-in-action/scan modified definition true 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 cingulate epilepsy http://www.case.edu/EpSO.owl#AnteriorCingulateEpilepsy 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. https://www.ncbi.nlm.nih.gov/pubmed/17514157 https://www.ncbi.nlm.nih.gov/pubmed/21532379 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 frontopolar cortex true true 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. https://www.pnas.org/content/112/9/E1020 https://www.ncbi.nlm.nih.gov/pubmed/9932952 Epilepsy characterized by seizures arising from abnormalities in anterior temporal lobe of brain anterior temporal epilepsy http://www.case.edu/EpSO.owl#AnteriorTemporalEpilepsy modified definition Anteromesial temporal lobectomy (AMTL) is the most commonly performed surgical procedure for the treatment of patients with medically refractory epilepsy anteromesial temporal lobectomy Anteromesial temporal lobectomy (AMTL) is the most commonly performed surgical procedure for the treatment of patients with medically refractory epilepsy http://www.thieme.com/media/samples/pubid1193255185.pdf Artifact-obscured EEG refers to an ictal record that is obscured by artifacts, thereby making its interpretation difficult or impossible. artifact obscured EEG http://www.case.edu/EpSO.owl#ArtifactObscuredEEG Artifact-obscured EEG refers to an ictal record that is obscured by artifacts, thereby making its interpretation difficult or impossible. https://bioportal.bioontology.org/ontologies/EPSO/?p=classes&conceptid=http%3A%2F%2Fwww.case.edu%2FEpSO.owl%23ArtifactObscuredEEG&jump_to_nav=true Asymmetry refers exclusively to amplitude differences of physiological EEG activity between the two hemispheres. asymmetry pattern http://www.case.edu/EpSO.owl#AsymmetryPattern Asymmetry refers exclusively to amplitude differences of physiological EEG activity between the two hemispheres. https://bioportal.bioontology.org/ontologies/EPSO/?p=classes&conceptid=http%3A%2F%2Fwww.case.edu%2FEpSO.owl%23AsymmetryPattern&jump_to_nav=true Audiogenic models of epilepsy have been used not only for reflex epilepsy and TLE studies but also to characterize comorbidities associated with the epilepsies. audiogenic model true Audiogenic models of epilepsy have been used not only for reflex epilepsy and TLE studies but also to characterize comorbidities associated with the epilepsies. https://www.ncbi.nlm.nih.gov/pubmed/25228809 Auditory illusions are false perceptions of a real external stimulus, for example a change in intensity or a duplication of the stimulus auditory illusion true Auditory illusions are false perceptions of a real external stimulus, for example a change in intensity or a duplication of the stimulus https://www.sciencedirect.com/topics/medicine-and-dentistry/auditory-illusion 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 epilepsy true 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 https://www.ncbi.nlm.nih.gov/pubmed/27112680 https://www.ncbi.nlm.nih.gov/pubmed/30714986 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. autoimmune seizure true 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. https://www.mayoclinic.org/medical-professionals/neurology-neurosurgery/news/new-approach-to-autoimmune-epilepsy/mac-20430556 https://www.ncbi.nlm.nih.gov/pubmed/30139784 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 imbalance true 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. https://www.ncbi.nlm.nih.gov/pubmed/7173131 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. autonomic status epilepsy true 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. https://www.ncbi.nlm.nih.gov/pubmed/17442005 https://www.ncbi.nlm.nih.gov/pubmed/28324947 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. autoregressive model true 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. https://www.ncbi.nlm.nih.gov/pubmed/22995680 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). ADLTE autosomal-dominant lateral temporal lobe epilepsy model true 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). https://www.ncbi.nlm.nih.gov/pubmed/25312505 The frequency of the background rhythm is below the normal value. background slow activity true The frequency of the background rhythm is below the normal value. https://bioportal.bioontology.org/ontologies/ESSO/?p=classes&conceptid=http%3A%2F%2Fwww.semanticweb.org%2Frjyy%2Fontologies%2F2015%2F5%2FESSO%23Background_Slow_Activity&jump_to_nav=true Background suppression refers to activity which is less than 10µV. background suppression http://www.case.edu/EpSO.owl#BackgroundSuppression Background suppression refers to activity which is less than 10µV. https://bioportal.bioontology.org/ontologies/EPSO/?p=classes&conceptid=http%3A%2F%2Fwww.case.edu%2FEpSO.owl%23BackgroundSuppression&jump_to_nav=true https://www.ncbi.nlm.nih.gov/pubmed/2345619 basal temporal epilepsy http://www.case.edu/EpSO.owl#BasalTemporalEpilepsy true https://www.ncbi.nlm.nih.gov/books/NBK390347/ https://www.ncbi.nlm.nih.gov/books/NBK390352/ benign electroencephalographic (EEG) patterns which are morphologically epileptiform but are non-epileptic. benign EEG pattern http://www.case.edu/EpSO.owl#BenignEEGPattern true benign electroencephalographic (EEG) patterns which are morphologically epileptiform but are non-epileptic. https://www.ncbi.nlm.nih.gov/pubmed/20231918 https://www.ncbi.nlm.nih.gov/books/NBK390347/ https://www.ncbi.nlm.nih.gov/books/NBK390352/ https://www.ncbi.nlm.nih.gov/pubmed/20231918 EEG patterns which are morphologically epileptiform but are non-epileptic. benign EEG pattern benign electroencephalographic pattern http://www.case.edu/EpSO.owl#BenignEEGPattern 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. BFEDC benign focal epileptiform discharge of childhood http://www.case.edu/EpSO.owl#BenignFocalEpileptiformDischargeofChildhood 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. https://bioportal.bioontology.org/ontologies/EPSO/?p=classes&conceptid=http%3A%2F%2Fwww.case.edu%2FEpSO.owl%23BenignFocalEpileptiformDischargeofChildhood&jump_to_nav=true https://www.ncbi.nlm.nih.gov/pubmed/11292215 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 myoclonus of infancy and shuddering attack true 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. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#shud-attacks https://www.ncbi.nlm.nih.gov/pubmed/15032388 https://www.ncbi.nlm.nih.gov/pubmed/16302879 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. BNSM Benign neonatal sleep myoclonus benign neonatal sleep myoclonus true 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. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#bnsm 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). benign paroxysmal vertigo true 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). https://www.epilepsydiagnosis.org/epilepsy-imitators.html#benign-vertigo https://www.ncbi.nlm.nih.gov/pubmed/1396544 In this model, beta-carbolines induce clonic and tonic-clonic seizures follwing intrapritoneal or subcutaneous administration. beta-carboline model true https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5603104/ Beta activity refers to activity with frequency range 13 to 30 Hz. beta activity http://www.case.edu/EpSO.owl#BetaActivity https://emedicine.medscape.com/article/1139332-overview#a1 true Beta activity refers to activity with frequency range 13 to 30 Hz. https://bioportal.bioontology.org/ontologies/EPSO/?p=classes&conceptid=http%3A%2F%2Fwww.case.edu%2FEpSO.owl%23BetaActivity&jump_to_nav=true Beta coma (BC) / Beta stupor (BS) refers to predominance of beta activity with amplitudes higher than 30µV in a comatose/stuporous patient. beta stupor beta coma http://www.case.edu/EpSO.owl#BetaComa Beta coma (BC) / Beta stupor (BS) refers to predominance of beta activity with amplitudes higher than 30µV in a comatose/stuporous patient. https://bioportal.bioontology.org/ontologies/EPSO/?p=classes&conceptid=http%3A%2F%2Fwww.case.edu%2FEpSO.owl%23BetaComa&jump_to_nav=true 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. bicuculline model 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. https://www.ncbi.nlm.nih.gov/pubmed/20868357 bifocal encephalomalacia http://www.case.edu/EpSO.owl#BifocalEncephalomalacia In bi-PLEDs, periodic or semi-periodic sharp waves occur in both hemispheres but do so asynchronously between the two hemispheres Bi-PLED bilateral periodic lateralized epileptiform discharge http://www.case.edu/EpSO.owl#Bi-PeriodicLateralizedEpileptiformDischarge In bi-PLEDs, periodic or semi-periodic sharp waves occur in both hemispheres but do so asynchronously between the two hemispheres https://bioportal.bioontology.org/ontologies/EPSO/?p=classes&conceptid=http%3A%2F%2Fwww.case.edu%2FEpSO.owl%23Bi-PeriodicLateralizedEpileptiformDischarge&jump_to_nav=true 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. biotinidase and holocarboxylase synthase deficiency true 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. https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html#biotinidase a look that shows one does not understand what someone has said or does not know the answer to a question blank stare true a look that shows one does not understand what someone has said or does not know the answer to a question https://www.merriam-webster.com/dictionary/blank%20stare Rumbling sounds caused by gas moving through the intestines borborygmi true Rumbling sounds caused by gas moving through the intestines https://www.medicinenet.com/script/main/art.asp?articlekey=25872 brain junction true https://www.ncbi.nlm.nih.gov/books/NBK390352/ 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. breach rhythm http://www.case.edu/EpSO.owl#BreachRhythm true 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. https://bioportal.bioontology.org/ontologies/EPSO/?p=classes&conceptid=http%3A%2F%2Fwww.case.edu%2FEpSO.owl%23BreachRhythm&jump_to_nav=true https://www.ncbi.nlm.nih.gov/pubmed/29623857 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. calcium-activated potassium channel model modified definition true https://www.ncbi.nlm.nih.gov/pubmed/1283140 Seizures caused due to blockage of voltage dependent channels channel blocker-induced seizure Modified definition true https://www.ncbi.nlm.nih.gov/pubmed/25228809 https://www.ncbi.nlm.nih.gov/pubmed/25312505 Chemical mutagenesis is a powerful strategy to produce genetically modified mutations in many species, in which N-ethyl-N-nitrosourea (ENU) induced the mutations. chemical mutagenesis derived model modified definition true https://www.ncbi.nlm.nih.gov/pubmed/15941650 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. childhood epilepsy with occipital paroxysm http://www.case.edu/EpSO.owl#ChildhoodEpilepsyWithOccipitalParoxysms modified definition https://www.ncbi.nlm.nih.gov/pubmed/9024190 In animal moels of chronic spontaneous limbic epilepsy, the electrographic seizures resemble the seizures recorded in humans with mesial temporal lobe epilepsy. chronic spontaneous limbic seizure model modified definition true 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 cortex seizure true Seizures are characterized by automatisms at onset with impaired awareness, emotion/mood and autonomic features. Focal emotional seizures with laughter (gelastic seizures) may occur. https://www.epilepsydiagnosis.org/seizure/frontal-lobe-overview.html https://www.ncbi.nlm.nih.gov/pubmed/10802766 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. cingulate epilepsy http://www.case.edu/EpSO.owl#CingulateEpilepsy modified 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. cobalt model true 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. https://www.ncbi.nlm.nih.gov/pubmed/20868357 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 cognitive aura true 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 https://www.ncbi.nlm.nih.gov/pubmed/28139515 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. combined generalized and focal epilepsy true 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. https://www.epilepsydiagnosis.org/epilepsy/focal-generalized-epilepsy-groupoverview.html https://www.ncbi.nlm.nih.gov/pubmed/25228809 Models exhibiting seizures longer than 15 minutes with focal onset and possible recurrence within 24 hours. complex febrile model modified definition true 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&apos;s disease, Lewy body dementia without treatment, migraine coma, Charles Bonnet syndrome (visual hallucinations of the blind), schizophrenia, hallucinogen-induced states and epilepsy. complex visual hallucination http://www.case.edu/EpSO.owl#ComplexVisualHallucination 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&apos;s disease, Lewy body dementia without treatment, migraine coma, Charles Bonnet syndrome (visual hallucinations of the blind), schizophrenia, hallucinogen-induced states and epilepsy. https://www.ncbi.nlm.nih.gov/pubmed/9798740 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 compulsive valsalva true 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 https://www.epilepsydiagnosis.org/epilepsy-imitators.html#compvalsalva 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. congenital stroke true 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. https://www.epilepsydiagnosis.org/aetiology/stroke-overview.html https://www.ncbi.nlm.nih.gov/pubmed/30528098 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 Routine EEG conventional EEG conventional electroencephalography true 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 https://www.medscape.com/viewarticle/749602_2 https://www.ncbi.nlm.nih.gov/pubmed/25769270 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. convulsant drug model Modified definition https://www.ncbi.nlm.nih.gov/pubmed/26920416 Convulsive status epilepticus is defined as a convulsive seizure lasting more than 5 min or consecutive seizures without recovery of consciousness. convulsive status epilepticus Modified definition true https://www.ncbi.nlm.nih.gov/pubmed/10510977 Kindling of male mice via transcorneal electrical stimulation corneal kindling Modified definition true 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. callosotomy corpus callosotomy true 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. https://www.ncbi.nlm.nih.gov/pubmed/30806817 Delta Coma (DC) / Delta stupor (DS) refers to irregular, high voltage delta background activity in a comatose/stuporous patient. delta stupor delta coma http://www.case.edu/EpSO.owl#DeltaComa Delta Coma (DC) / Delta stupor (DS) refers to irregular, high voltage delta background activity in a comatose/stuporous patient. https://bioportal.bioontology.org/ontologies/EPSO/?p=classes&conceptid=http%3A%2F%2Fwww.case.edu%2FEpSO.owl%23DeltaComa&jump_to_nav=true https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5603104/ Delta activity refers to activity with a frequency range of 1 to 3 Hz. delta rhythm http://www.case.edu/EpSO.owl#DeltaRhythm https://emedicine.medscape.com/article/1139332-overview#a1 true Delta activity refers to activity with a frequency range of 1 to 3 Hz. https://bioportal.bioontology.org/ontologies/EPSO/?p=classes&conceptid=http%3A%2F%2Fwww.case.edu%2FEpSO.owl%23DeltaRhythm&jump_to_nav=true https://www.ncbi.nlm.nih.gov/pubmed/22995680 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. deterministic model Modified definition true 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 deep respiration diaphragmatic breathing 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 https://www.healthline.com/health/diaphragmatic-breathing Focal cognitive seizures are seen characterized by language impairment with difficulties reading, calculating and writing. dominant parieto-temporal region seizure true Focal cognitive seizures are seen characterized by language impairment with difficulties reading, calculating and writing. https://www.epilepsydiagnosis.org/seizure/occipital-overview.html https://www.ncbi.nlm.nih.gov/pubmed/23027094 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. dorsolateral frontal cortex true 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. https://www.epilepsydiagnosis.org/seizure/frontal-lobe-overview.html 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). dreamy state true true 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). https://academic.oup.com/brain/article/130/1/88/348244 Mouse mutant ducky, a model for absence epilepsy, is characterized by spike-wave seizures and ataxia. ducky mouse true Mouse mutant ducky, a model for absence epilepsy, is characterized by spike-wave seizures and ataxia. https://www.ncbi.nlm.nih.gov/pubmed/11487633 Dysmature EEG pattern. EEGs are considered dysmature if they contain patterns that are at least 2 weeks immature for the conceptional age. dysmature http://www.case.edu/EpSO.owl#Dysmature modified definition Dysmature EEG pattern. https://www.ncbi.nlm.nih.gov/pubmed/9105658 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. Early onset benign childhood occipital epilepsy (Panayiotopoulos type) early-onset benign childhood occipital seizure true 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. https://adc.bmj.com/content/78/1/3 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 electrically kindled cat true 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 https://www.ncbi.nlm.nih.gov/pubmed/22938964 https://www.ncbi.nlm.nih.gov/pubmed/25687591 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. electrocerebral inactivity http://www.case.edu/EpSO.owl#ElectrocerebralInactivity modified definition https://www.ncbi.nlm.nih.gov/pubmed/24405074 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. electrode implantation true 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. https://www.epilepsy.com/learn/professionals/diagnosis-treatment/surgery/implanted-eeg-electrodes A focal or generalized flattening of the EEG due to a sudden desynchronization of brain activity. electrodecrement http://www.case.edu/EpSO.owl#Electrodecrement A focal or generalized flattening of the EEG due to a sudden desynchronization of brain activity. https://bioportal.bioontology.org/ontologies/EPSO/?p=classes&conceptid=http%3A%2F%2Fwww.case.edu%2FEpSO.owl%23Electrodecrement&jump_to_nav=true 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. electrographic seizure true 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. https://www.ncbi.nlm.nih.gov/pubmed/24229615 https://www.ncbi.nlm.nih.gov/pubmed/20492865 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 electroshock stimulation model true 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 https://www.ncbi.nlm.nih.gov/pubmed/20868357 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 elementary partial seizure true 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 https://www.sciencedirect.com/topics/neuroscience/partial-seizures Ictal vomiting or emetic seizure is considered as a localizing sign in patients with partial seizures of temporal origin. EmeticSeizure emetic seizure http://www.case.edu/EpSO.owl#EmeticSeizure Ictal vomiting or emetic seizure is considered as a localizing sign in patients with partial seizures of temporal origin. https://www.ncbi.nlm.nih.gov/pubmed/18054131 epilepsy classification https://www.epilepsydiagnosis.org/epilepsy/epilepsy-classification-groupoverview.html true 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 imitator https://stanfordhealthcare.org/medical-conditions/brain-and-nerves/epilepsy/symptoms/imitators.html true 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. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#overview epilepsy with general tonic clonic seizure on awakening http://www.case.edu/EpSO.owl#EpilepsyWithGeneralTonicClonicSeizureOnAwakening https://www.epilepsy.com/learn/types-epilepsy-syndromes/epilepsy-generalized-tonic-clonic-seizures-alone true 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. epileptic encephalopathy with continous spikes and wave during sleep true 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. https://www.epilepsydiagnosis.org/syndrome/ee-csws-overview.html https://www.ncbi.nlm.nih.gov/books/NBK390352/ Eileptiform benign variant have an epileptiform appearance but are not epileptogenic, that is, they are not associated with seizures. epileptiform benign variant http://www.case.edu/EpSO.owl#EpileptiformBenignVariant true Eileptiform benign variant have an epileptiform appearance but are not epileptogenic, that is, they are not associated with seizures. https://bioportal.bioontology.org/ontologies/EPSO/?p=classes&conceptid=http%3A%2F%2Fwww.case.edu%2FEpSO.owl%23EpileptiformBenignVariant&jump_to_nav=true https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4329510/ Mutation in Kcna1 gene, which encodes for the α subunit of the voltage-gated potassium channel Kv1.1, cause episodic ataxia type 1 (EA1). episodic ataxia type-1 model Modified definition true https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4329510/ 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. episodic ataxia type-2 model Modified definition true 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). excessive fast pattern http://www.case.edu/EpSO.owl#ExcessiveFastPattern 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). https://bioportal.bioontology.org/ontologies/EPSO/?p=classes&conceptid=http%3A%2F%2Fwww.case.edu%2FEpSO.owl%23ExcessiveFastPattern&jump_to_nav=true 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. experiential sensory seizure true 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. http://www.medlink.com/article/focal_sensory_seizures_with_experiential_symptoms 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). Extensor spasticity extensor spasm true 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). https://www.aans.org/Patients/Neurosurgical-Conditions-and-Treatments/Spasticity https://www.ncbi.nlm.nih.gov/pubmed/27093945 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 extra striate cortex seizure true true 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 https://www.epilepsydiagnosis.org/seizure/occipital-overview.html https://www.ncbi.nlm.nih.gov/pubmed/7925156 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. extratemporal cortical resection true true 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. https://www.webmd.com/epilepsy/guide/extratemporal-cortical-resection#1 https://www.ncbi.nlm.nih.gov/pubmed/17162190 eye rotation true true 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+). febrile seizure model true 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+). https://www.ncbi.nlm.nih.gov/pubmed/25312505 https://www.ncbi.nlm.nih.gov/pubmed/30057567 first line immunotherapy true Streaks or specks of light in vision are described as flashes. Flashes of light flash https://www.aao.org/eye-health/symptoms/flashes-of-light https://www.healthline.com/health/seeing-stars-in-vision Modified definition true 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. Flexor spasticity flexor spasm true 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. https://www.aans.org/Patients/Neurosurgical-Conditions-and-Treatments/Spasticity flickering light https://www.epilepsysociety.org.uk/photosensitive-epilepsy#.Xmob-fkzbIU true true 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. fluid percussion injury model true 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. https://www.ncbi.nlm.nih.gov/pubmed/25228809 https://www.ncbi.nlm.nih.gov/pubmed/20868357 In this model, brief exposures to flurothyl gas result in clonic seizures, followed by tonic-clonic convulsions. flurothyl model Modified definition true https://www.ncbi.nlm.nih.gov/pubmed/17525024 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 automatism seizure true true 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. https://www.epilepsydiagnosis.org/seizure/motor-overview.html Seizures accompanied by autonomic symptoms or signs such as sexual arousal, penile erection, and orgasm focal autonomic seizure with erection http://epilepsyontario.org/about-epilepsy/types-of-seizures/simple-partial-seizures/ https://www.epilepsydiagnosis.org/seizure/autonomic-overview.html Modified definition true 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 lacrimation https://emedicine.medscape.com/article/1186872-overview https://www.epilepsydiagnosis.org/seizure/autonomic-overview.html true true true Complex partial seizures characterized by lacrimation or running tears as the initial and most prominent ictal event, with no sign of crying https://www.ncbi.nlm.nih.gov/pubmed/25160772 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 autonomic seizure with piloerection http://epilepsyontario.org/about-epilepsy/types-of-seizures/simple-partial-seizures/ https://www.epilepsydiagnosis.org/seizure/autonomic-overview.html https://www.neurology-asia.org/articles/neuroasia-2018-23(2)-163.pdf true true 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 https://www.ncbi.nlm.nih.gov/pubmed/24890932 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 behaviour arrest seizure true 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. https://www.epilepsydiagnosis.org/seizure/behaviour-arrest-overview.html 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 bilateral motor seizure true 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. https://www.epilepsydiagnosis.org/seizure/motor-overview.html 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. cognitive focal cognitive seizure true 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. https://www.epilepsydiagnosis.org/seizure/cognitive-overview.html https://www.ncbi.nlm.nih.gov/pubmed/16563807 There is a specific difficulty naming everyday objects. focal cognitive seizure with anomia true true There is a specific difficulty naming everyday objects. https://www.epilepsydiagnosis.org/seizure/cognitive-overview.html https://www.ncbi.nlm.nih.gov/books/NBK2605 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 auditory agnosia true true 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. https://www.epilepsydiagnosis.org/seizure/cognitive-overview.html https://www.ncbi.nlm.nih.gov/pubmed/23667393 Characterized by an experience of being disconnected from, though aware of, self or environment. focal cognitive seizure with dissociation true true Characterized by an experience of being disconnected from, though aware of, self or environment. https://www.epilepsydiagnosis.org/seizure/cognitive-overview.html https://www.ncbi.nlm.nih.gov/pubmed/24649451 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 forced thinking https://www.epilepsy.com/connect/forums/living-epilepsy-adults/forced-thinking true true true 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. https://www.epilepsydiagnosis.org/seizure/cognitive-overview.html https://www.ncbi.nlm.nih.gov/pubmed/22832396 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 hallucination true true 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). https://www.epilepsydiagnosis.org/seizure/cognitive-overview.html https://www.ncbi.nlm.nih.gov/books/NBK2605/ 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 illusion true true Characterized by an alteration of actual perception involving visual, auditory, somatosensory, olfactory, and/or gustatory phenomena, often without obvious change in awareness. https://www.epilepsydiagnosis.org/seizure/cognitive-overview.html 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 left-right confusion true 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. https://www.epilepsydiagnosis.org/seizure/cognitive-overview.html https://www.ncbi.nlm.nih.gov/pubmed/29376090 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 memory impairment https://www.epilepsysociety.org.uk/how-epilepsy-can-affect-memory#.XH926ogzbIU true true true The onset of inability to retain memory for events occurring during the seizure, while other cognitive functions and awareness are preserved in the seizure. https://www.epilepsydiagnosis.org/seizure/cognitive-overview.html Characterized by unilateral failure to report or respond/orient to stimuli presented contralaterally. focal cognitive seizure with neglect true Characterized by unilateral failure to report or respond/orient to stimuli presented contralaterally. https://www.epilepsydiagnosis.org/seizure/cognitive-overview.html https://www.ncbi.nlm.nih.gov/pubmed/19846832 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 anger https://www.epilepsy.com/learn/challenges-epilepsy/moods-and-behavior/mood-and-behavior-101/aggression true true true 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. https://www.epilepsydiagnosis.org/seizure/emotional-overview.html https://www.ncbi.nlm.nih.gov/pubmed/26924970 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 emotional seizure with pleasure http://www.medlink.com/article/focal_sensory_seizures_with_experiential_symptoms true true true 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. https://www.epilepsydiagnosis.org/seizure/emotional-overview.html https://www.ncbi.nlm.nih.gov/pubmed/30361137 A sustained contraction of both agonist and antagonist muscles producing athetoid or twisting movements, which produces abnormal postures. focal motor seizure with dystonia true true true A sustained contraction of both agonist and antagonist muscles producing athetoid or twisting movements, which produces abnormal postures. https://www.epilepsydiagnosis.org/seizure/motor-overview.html https://www.ncbi.nlm.nih.gov/pubmed/8848969 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 negative myoclonus true true 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. https://www.epilepsydiagnosis.org/seizure/motor-overview.html 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 motor seizure with version true 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. https://www.epilepsydiagnosis.org/seizure/motor-overview.html 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. non motor onset focal non-motor onset seizure https://www.epilepsydiagnosis.org/seizure/focal-seizure-overview.html https://www.webmd.com/epilepsy/child-focal-seizure-symptoms#1 true true 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. https://epilepsynewengland.org/knowledge-center/types-of-seizures/seizure-onset https://www.ncbi.nlm.nih.gov/pubmed/26336950 focal non convulsive status epilepticus true https://www.ncbi.nlm.nih.gov/pubmed/26336950 focal non convulsive status epilepticus with impairment of consciousness true 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 seizure classification by onset feature true 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. https://www.epilepsydiagnosis.org/seizure/focal-seizure-overview.html https://www.ncbi.nlm.nih.gov/pubmed/15642493 Characterized by a sensation in the head such as light-headedness or headache. focal sensory seizure with cephalic sensation true true Characterized by a sensation in the head such as light-headedness or headache. https://www.epilepsydiagnosis.org/seizure/sensory-overview.html https://www.ncbi.nlm.nih.gov/pubmed/15642493 https://www.ncbi.nlm.nih.gov/pubmed/27857611 Characterized by sensations of feeling hot and then cold. focal sensory seizure with hot-cold sensation true true Characterized by sensations of feeling hot and then cold. https://www.epilepsydiagnosis.org/seizure/sensory-overview.html 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 sensory vestibular seizure https://link.springer.com/chapter/10.1007/978-1-4757-3801-8_14 true true 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. https://www.epilepsydiagnosis.org/seizure/sensory-overview.html 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. focal to bilateral tonic clonic seizure https://epilepsynewengland.org/knowledge-center/types-of-seizures/focal-bilateral-tonic-clonic-seizures https://www.epilepsy.com/learn/types-seizures/focal-bilateral-tonic-clonic-seizures-aka-secondarily-generalized-seizures true true 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. https://www.epilepsydiagnosis.org/seizure/focal-bilateral-tonic-clonic-overview.html https://www.ncbi.nlm.nih.gov/books/NBK2605/ fragmentary behavior true true https://www.ncbi.nlm.nih.gov/books/NBK390352/ 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. FAR frontal arousal rhythm http://www.case.edu/EpSO.owl#FrontalArousalRhythm true 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. https://bioportal.bioontology.org/ontologies/EPSO/?p=classes&conceptid=http%3A%2F%2Fwww.case.edu%2FEpSO.owl%23FrontalArousalRhythm&jump_to_nav=true 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 intermittent rhythmic delta activity true 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. https://bioportal.bioontology.org/ontologies/ESSO/?p=classes&conceptid=http%3A%2F%2Fwww.semanticweb.org%2Frjyy%2Fontologies%2F2015%2F5%2FESSO%23Frontal_Intermittent_Rhythmic_Delta_Activity_FIRDA&jump_to_nav=true 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. frontal lobe seizure https://www.mayoclinic.org/diseases-conditions/frontal-lobe-seizures/symptoms-causes/syc-20353958 true true 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. https://www.epilepsydiagnosis.org/seizure/frontal-lobe-overview.html 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. fronto-parietal operculum seizure true 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. https://www.epilepsydiagnosis.org/seizure/frontal-lobe-overview.html 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 cortex seizure true 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. https://www.epilepsydiagnosis.org/seizure/frontal-lobe-overview.html https://www.ncbi.nlm.nih.gov/pubmed/19679190 frontopolar epilepsy http://www.case.edu/EpSO.owl#FrontopolarEpilepsy true https://www.ncbi.nlm.nih.gov/pubmed/11554899 Seizures induced exclusively by gait disorder (characterized by abnormal posturing and movement of the left leg while walking). gait induced seizure Modified definition true true https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5603104/ An EEG rhythm between 30- 45 Hz. gamma rhythm modified definition true https://www.ncbi.nlm.nih.gov/pubmed/29722352 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. gene panel sequencing true 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. https://www.mgz-muenchen.com/genetic-testing/gene-panel-sequencing-114 Generalized linear models (GLM) are extension of linear regression models and are used to evaluate the prevalence of cognitive co-morbidities in epilepsy generalized linear model true Generalized linear models (GLM) are extension of linear regression models and are used to evaluate the prevalence of cognitive co-morbidities in epilepsy https://www.ncbi.nlm.nih.gov/pubmed/22995680 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 motor onset seizure https://www.epilepsydiagnosis.org/seizure/generalized-seizure-groupoverview.html true 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. https://epilepsynewengland.org/knowledge-center/types-of-seizures/generalized-motor-seizures-tonic-clonic https://www.ncbi.nlm.nih.gov/pubmed/29327337 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-motor onset seizure https://www.epilepsydiagnosis.org/seizure/generalized-seizure-groupoverview.html true true 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. https://epilepsynewengland.org/knowledge-center/types-of-seizures/generalized-non-motor-absence-seizures https://www.ncbi.nlm.nih.gov/pubmed/26336950 generalized non convulsive status epilepticus without coma true 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. Genetic Defect genetic etiology http://www.case.edu/EpSO.owl#GeneticDefect true 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. https://www.epilepsydiagnosis.org/aetiology/genetic-groupoverview.html Genital automatisms (GAs) are uncommon clinical phenomena of focal seizures. They are defined as repeated fondling, grabbing, or scratching of the genitals. genital automatism true Genital automatisms (GAs) are uncommon clinical phenomena of focal seizures. They are defined as repeated fondling, grabbing, or scratching of the genitals. https://www.ncbi.nlm.nih.gov/pubmed/29414563 https://www.ncbi.nlm.nih.gov/pubmed/19423297 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. gustatory illusion true 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. https://hallucinations.enacademic.com/744/gustatory_illusion https://www.ncbi.nlm.nih.gov/pubmed/8021672 A hallucination in which one sees one's own body from a distance heautoscopy true true A hallucination in which one sees one's own body from a distance https://www.yourdictionary.com/heautoscopy Elevated [K+] seizure models are particularly relevant to studies of astrocytes, which play a key role in buffering extracellular K+ affecting neuronal excitability. high potassium slice model true Elevated [K+] seizure models are particularly relevant to studies of astrocytes, which play a key role in buffering extracellular K+ affecting neuronal excitability. https://www.ncbi.nlm.nih.gov/pubmed/24013377 https://www.ncbi.nlm.nih.gov/pubmed/24777136 hippocampal epilepsy http://www.case.edu/EpSO.owl#HippocampalEpilepsy http://www.medlink.com/article/hippocampal_and_parahippocampal_seizures true https://www.ncbi.nlm.nih.gov/pubmed/27070861 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 hippocampal kindling model Modified definition true 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'. hippocampal sclerosis http://www.case.edu/EpSO.owl#MesialTemporalSclerosis true 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'. https://www.epilepsydiagnosis.org/aetiology/hippocampal-sclerosis-overview.html Oscillatory eye movements both in horizontal direction. horizontal occular oscillation https://iovs.arvojournals.org/article.aspx?articleid=2165843 Modified definition true hypehydrotic seizure http://www.case.edu/EpSO.owl#HypehydroticSeizure https://www.ncbi.nlm.nih.gov/pubmed/16302879 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. hyper-cyanotic spell true true 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. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#hypercyanotic Rodent pups have their core temperature increased to 40°C-42°C by hot air stream for 30 minutes, stimulating prolonged convulsions. hyperthermic seizure model true Rodent pups have their core temperature increased to 40°C-42°C by hot air stream for 30 minutes, stimulating prolonged convulsions. https://www.ncbi.nlm.nih.gov/pubmed/25228809 https://www.ncbi.nlm.nih.gov/pubmed/16302879 https://www.ncbi.nlm.nih.gov/pubmed/23190285 Hyperventilation syncope is a transient loss of consciousness with or without an anoxic seizure triggered by hyperventilation. hyperventilation syncope true true Hyperventilation syncope is a transient loss of consciousness with or without an anoxic seizure triggered by hyperventilation. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#hyperventilation https://www.ncbi.nlm.nih.gov/books/NBK2609/ 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. Hypnic jerk Sleep start jerks hypnogogic jerk http://purl.bioontology.org/ontology/SNOMEDCT/443438009 true true true 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. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#hypnogogic 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. hypnogogic seizure http://www.case.edu/EpSO.owl#HypnogogicSeizure http://www.columbianeurology.org/sites/default/files/nocturnal_seizures_SemNeurol_2004.pdf Modified definition https://www.ncbi.nlm.nih.gov/pubmed/21030341 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. hypnopompic seizure http://www.case.edu/EpSO.owl#HypnopompicSeizure Modified definition Hypothalamic hamartomas may be associated with gelastic seizures, focal seizures, and a generalized epileptic encephalopathy, with severe seizures and cognitive and behavior decline. Hypothalamic hamartoma hypothalamic epilepsy http://www.case.edu/EpSO.owl#HypothalamicEpilepsy Hypothalamic hamartomas may be associated with gelastic seizures, focal seizures, and a generalized epileptic encephalopathy, with severe seizures and cognitive and behavior decline. https://www.ncbi.nlm.nih.gov/pubmed/12823582 In this model of global hypoxia, rat pups are exposed to graded global hypoxia (7%–4% oxygen) for 15 minutes in a gas chamber. hypoxia model true In this model of global hypoxia, rat pups are exposed to graded global hypoxia (7%–4% oxygen) for 15 minutes in a gas chamber. https://www.ncbi.nlm.nih.gov/pubmed/25228809 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-ischemic true 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. https://www.epilepsydiagnosis.org/aetiology/hypoxic-ischemic-overview.html 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. Hypoxic Ischemic Injury hypoxic and ischemic injury http://www.case.edu/EpSO.owl#HypoxicIschemicInjury true 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. https://www.epilepsydiagnosis.org/aetiology/hypoxic-ischemic-injury-overview.html https://www.ncbi.nlm.nih.gov/pubmed/26038597 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. Seizure-related cardiac arrhythmias ictal or post-ictal cardiac abnormality Modified definition true 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 Seizure-related respiratory dysfunction ictal or post-ictal respiratory abnormality true 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 https://www.epilepsy.com/article/2015/9/breathing-problems-and-sudep https://www.ncbi.nlm.nih.gov/pubmed/26304794 EEG pattern of an ictal event ictal pattern http://www.case.edu/EpSO.owl#IctalPattern true EEG pattern of an ictal event https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375749/ 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 cerebral insult seizure true 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. https://www.ncbi.nlm.nih.gov/pubmed/12428028 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. immediate and early post traumatic seizure true 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. https://www.ncbi.nlm.nih.gov/pubmed/26015908 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. immune etiology true 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. https://www.epilepsydiagnosis.org/aetiology/immune-groupoverview.html https://www.ncbi.nlm.nih.gov/pubmed/22995680 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. in silico model true 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. https://www.ncbi.nlm.nih.gov/pubmed/22099916 Like, suitable for, or characteristic of an infant; babyish; childish or childlike; immature infantile infantile behavior true Like, suitable for, or characteristic of an infant; babyish; childish or childlike; immature https://www.yourdictionary.com/infantile https://www.ncbi.nlm.nih.gov/pubmed/26423537 infectious cause of seizure true 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. infectious etiology true 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. https://www.epilepsydiagnosis.org/aetiology/immune-groupoverview.html 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. inhibitory motor seizure true 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. http://www.medlink.com/article/inhibitory_motor_seizures 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 epilepsy http://www.case.edu/EpSO.owl#InsularEpilepsy 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. https://www.ncbi.nlm.nih.gov/pubmed/28386920 https://www.ncbi.nlm.nih.gov/pubmed/15329073 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. insular lobe seizure true 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. https://www.sciencedirect.com/science/article/pii/S0035378718308117 https://www.ncbi.nlm.nih.gov/pubmed/20161538 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 Behavior Syndrome interictal behavior disorder true true 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. https://jamanetwork.com/journals/jamapsychiatry/article-abstract/491470 https://www.ncbi.nlm.nih.gov/pubmed/20161538 Interictal dysphoric disorder is a proposed epilepsy-specific psychiatric condition characterized by a conglomerate of symptoms such as depression, irritability, euphoria, and anxiety. interictal dysphoric disorder true Interictal dysphoric disorder is a proposed epilepsy-specific psychiatric condition characterized by a conglomerate of symptoms such as depression, irritability, euphoria, and anxiety. https://www.ncbi.nlm.nih.gov/pubmed/29414382 A slow activity that occurs intermittently and is not caused by drowsiness. Intermittent slow can be irregular or rhythmical. intermittent slow activity true A slow activity that occurs intermittently and is not caused by drowsiness. Intermittent slow can be irregular or rhythmical. https://bioportal.bioontology.org/ontologies/ESSO/?p=classes&conceptid=http%3A%2F%2Fwww.semanticweb.org%2Frjyy%2Fontologies%2F2015%2F5%2FESSO%23Intermittent_Slow_Activity&jump_to_nav=true https://www.ncbi.nlm.nih.gov/pubmed/28637636 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 intracranial infection true 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 https://www.ncbi.nlm.nih.gov/pubmed/17924219 Invasive evaluations play important roles in identifying epileptogenic zones and functional areas in patients with intractable focal epilepsy. invasive preoperative exploration true Invasive evaluations play important roles in identifying epileptogenic zones and functional areas in patients with intractable focal epilepsy. https://www.ncbi.nlm.nih.gov/pubmed/26948700 https://www.ncbi.nlm.nih.gov/pubmed/12744361 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 invasive subdural grid monitoring Modified definition true https://www.ncbi.nlm.nih.gov/pubmed/6149233 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. jitteriness true 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. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#misc 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-induced seizure true 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. https://www.sciencedirect.com/topics/medicine-and-dentistry/kainic-acid-induced-seizure https://www.ncbi.nlm.nih.gov/pubmed/25228809 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. kainic acid model Modified definition true 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. lambda wave http://www.case.edu/EpSO.owl#LambdaWave https://emedicine.medscape.com/article/1139332-overview#a1 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. https://bioportal.bioontology.org/ontologies/EPSO/?p=classes&conceptid=http%3A%2F%2Fwww.case.edu%2FEpSO.owl%23LambdaWave&jump_to_nav=true 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 LTG-resistant kindled model lamotrigine resistant kindled model true 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 https://www.ncbi.nlm.nih.gov/pubmed/24674593 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3420488/ The use of functional magnetic resonance imaging (fMRI), which is a non-invasive mapping method, to investigate patients’ language function. language fMRI language functional magnetic resonance imaging https://www.frontiersin.org/articles/10.3389/fnhum.2019.00183/full Modified definition true true language regression due to other etiology https://www.epilepsydiagnosis.org/syndrome/lks-diffdiagnoses.html true 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 onset childhood occipital epilepsy (Gastaut type) late-onset benign occipital seizure true 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. https://adc.bmj.com/content/78/1/3 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). late post-traumatic seizure true 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). https://msktc.org/tbi/factsheets/seizures-after-traumatic-brain-injury https://www.ncbi.nlm.nih.gov/pubmed/19286474 lateral frontal epilepsy http://www.case.edu/EpSO.owl#LateralFrontalEpilepsy https://www.ncbi.nlm.nih.gov/pubmed/15788545 lateral occipital epilepsy http://www.case.edu/EpSO.owl#LateralOccipitalEpilepsy https://www.ncbi.nlm.nih.gov/pubmed/23872083 lateral parietal epilepsy http://www.case.edu/EpSO.owl#LateralParietalEpilepsy 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. left frontal astrocytoma http://www.case.edu/EpSO.owl#LeftFrontalAstrocytoma https://rarediseases.org/rare-diseases/anaplastic-astrocytoma/ Modified definition https://www.ncbi.nlm.nih.gov/pubmed/26317672 left hemisphere tumor resection http://www.case.edu/EpSO.owl#LeftHemisphereTumorResection https://www.ncbi.nlm.nih.gov/pubmed/21896690 left mesial temporal lesion http://www.case.edu/EpSO.owl#LeftMesialTemporalLesion 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. lethargic mouse true 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. http://www.novapublishers.org/catalog/product_info.php?products_id=33768 https://www.ncbi.nlm.nih.gov/pubmed/31846897 limbic epilepsy true true https://www.ncbi.nlm.nih.gov/pubmed/25667835 displaying or expressing enjoyment or pleasure, esp at the taste of food or drink lip smacking true displaying or expressing enjoyment or pleasure, esp at the taste of food or drink https://www.collinsdictionary.com/dictionary/english/lip-smacking https://www.ncbi.nlm.nih.gov/pubmed/1324090 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. lithium-pilocarpine model Modified definition true loss of awareness https://www.epilepsy.com/learn/types-seizures/focal-onset-impaired-awareness-seizures-aka-complex-partial-seizures true true 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. low magnesium slice model true 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. https://www.ncbi.nlm.nih.gov/pubmed/24013377 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. macro-scale model true 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. https://www.ncbi.nlm.nih.gov/pubmed/22995680 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. malaria-related seizure true 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. http://epilepsygenetics.net/2013/08/19/malaria-seizures-and-genes/ https://www.ncbi.nlm.nih.gov/pubmed/23027093 Mesial frontal lobe epilepsies are epilepsies arising from the anterior cingulate gyrus and those of the supplementary sensorimotor area. mesial frontal epilepsy http://www.case.edu/EpSO.owl#MesialFrontalEpilepsy Modified definition true https://www.ncbi.nlm.nih.gov/pubmed/15788545 mesial occipital epilepsy http://www.case.edu/EpSO.owl#MesialOccipitalEpilepsy https://www.ncbi.nlm.nih.gov/pubmed/23872083 mesial parietal epilepsy http://www.case.edu/EpSO.owl#MesialParietalEpilepsy true https://www.ncbi.nlm.nih.gov/pubmed/23027091 mesial temporal lobe epilepsy by specific etiology true true 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. mesial temporal lobe seizure including hippocampus true 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. https://www.epilepsydiagnosis.org/seizure/temporal-overview.html 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 Cause metabolic etiology http://www.case.edu/EpSO.owl#MetabolicCause https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html true 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. https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html Metabolic imaging is a field of molecular imaging that focuses and targets changes in metabolic pathways for the evaluation of different clinical conditions metabolic imaging true Metabolic imaging is a field of molecular imaging that focuses and targets changes in metabolic pathways for the evaluation of different clinical conditions https://www.ncbi.nlm.nih.gov/pubmed/26687855 Metaldehyde-induced seizures. metaldehyde-induced seizure true Metaldehyde-induced seizures. https://www.ncbi.nlm.nih.gov/pubmed/7143555 Metallic taste perceived in the oral cavity independent of any external stimuli. metallic taste hallucination true Metallic taste perceived in the oral cavity independent of any external stimuli. https://www.sciencedirect.com/topics/neuroscience/gustatory-hallucination https://www.ncbi.nlm.nih.gov/pubmed/6133913 Animal model in which generalized seizures are induced by methoxypyridoxine. methoxypyridoxine model Modified definition true 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. micro-scale model true 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. https://www.ncbi.nlm.nih.gov/pubmed/22995680 https://www.ncbi.nlm.nih.gov/books/NBK390352/ Midline theta rhythm occurs as a focal rhythm over the midline region and usually is most prominant in the central vertex lead. midline theta rhythm http://www.case.edu/EpSO.owl#MidlineThetaRhythm true Midline theta rhythm occurs as a focal rhythm over the midline region and usually is most prominant in the central vertex lead. https://bioportal.bioontology.org/ontologies/EPSO/?p=classes&conceptid=http%3A%2F%2Fwww.case.edu%2FEpSO.owl%23MidlineThetaRhythm&jump_to_nav=true https://www.ncbi.nlm.nih.gov/books/NBK98193/ Migraine associated with other illnesses. migraine associated disorder https://americanmigrainefoundation.org/resource-library/migraine-and-common-co-morbidities/ https://www.epilepsydiagnosis.org/epilepsy-imitators.html#migraine Modified definition true true https://www.ncbi.nlm.nih.gov/pubmed/24632481 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. mini-international neuropsychiatric interview true 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. http://www.ebi.ac.uk/efo/EFO_0004786 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. mixed spasm true 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. https://emedicine.medscape.com/article/1176431-clinical https://www.ncbi.nlm.nih.gov/pubmed/20627816 To make a long, low sound of pain, suffering, or another strong emotion. moan true true To make a long, low sound of pain, suffering, or another strong emotion. https://dictionary.cambridge.org/dictionary/english/moan https://www.ncbi.nlm.nih.gov/pubmed/1915173 Distinct EEG activity appearing to be composed of one dominant activity. monomorphic wave https://www.medicine.mcgill.ca/physio/vlab/biomed_signals/eeg_n.htm Modified definition true 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. mu rhythm http://www.case.edu/EpSO.owl#MuRhythm https://emedicine.medscape.com/article/1139332-overview#a1 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. https://bioportal.bioontology.org/ontologies/EPSO/?p=classes&conceptid=http%3A%2F%2Fwww.case.edu%2FEpSO.owl%23MuRhythm&jump_to_nav=true 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. multifocal epilepsy http://www.case.edu/EpSO.owl#MultiFocalEpilepsy true https://www.ncbi.nlm.nih.gov/pubmed/9757434 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. multilobar resection https://pdfs.semanticscholar.org/1758/8f2f2affb26e5ac437702e13af64499fd522.pdf Modified definition true https://www.ncbi.nlm.nih.gov/pubmed/8194189 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. Daytime nap study multiple sleep latency test true 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. http://sleepeducation.org/disease-detection/multiple-sleep-latency-test/overview-and-facts 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. multiple subpial transection https://www.webmd.com/epilepsy/guide/multiple-subpial-transection-mst true true 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. https://www.ncbi.nlm.nih.gov/pubmed/7897419 Musical hallucination (MH) is the experience of hearing music when none is being played. music hallucination true Musical hallucination (MH) is the experience of hearing music when none is being played. https://www.tinnitus.org.uk/musical-hallucination music tone true 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. myoclonic absence status epilepticus true 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. https://www.medlink.com/article/absence_status_epilepticus 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 motor seizure true 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. https://www.ncbi.nlm.nih.gov/pubmed/19453721 https://www.ncbi.nlm.nih.gov/pubmed/12908748 negative visual illusion true true 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. neocortical epilepsy true 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. https://www.columbianeurosurgery.org/conditions/neocortical-epilepsy/ https://www.ncbi.nlm.nih.gov/pubmed/25228809 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. neonatal hypoxia model Modified definition true 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 disorders depression inventory for epilepsy true 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. https://www.ncbi.nlm.nih.gov/pubmed/26900772 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. neurological syncope true 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. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#neurosyncope https://www.ncbi.nlm.nih.gov/pubmed/22995680 Non-deterministic models comes under the category of computaional model that aims to capture the inherent variability of the recorded brain activity. non-deterministic model Modified definition true https://www.ncbi.nlm.nih.gov/pubmed/23531441 https://www.ncbi.nlm.nih.gov/pubmed/2369876 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 head drop true true 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. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#head-drops 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-epileptic seizure true 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. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#psychogenic https://www.ncbi.nlm.nih.gov/pubmed/9109891 https://www.ncbi.nlm.nih.gov/pubmed/9832214 Non-invasive method to assess the hemispheric dominance for language. non-invasive assessment of language dominance Modified definition true Non-invasive localization of focal epileptogenic discharges in patients considered for surgical treatment. non-invasive epileptic focus localization true Non-invasive localization of focal epileptogenic discharges in patients considered for surgical treatment. https://www.ncbi.nlm.nih.gov/pubmed/9741750 https://www.ncbi.nlm.nih.gov/pubmed/7631075 non-invasive multichannel magnetoencephalography true https://www.ncbi.nlm.nih.gov/pubmed/27627857 Non-invasive pre-surgical evaluation. non-invasive preoperative evaluation Modified definition true 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-pharmacological treatment of epilepsy true 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. https://www.ncbi.nlm.nih.gov/pubmed/22028523 https://www.ncbi.nlm.nih.gov/pubmed/24163755 Non-surgical brain stimulation refers to techniques that use electrical currents or magnetic fields to change brain activity non-surgical stimulation Modified definition true 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. non dominant parietal cortex seizure true true 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. https://www.epilepsydiagnosis.org/seizure/parietal-overview.html https://www.ncbi.nlm.nih.gov/books/NBK390343/ 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. normal EEG pattern http://www.case.edu/EpSO.owl#NormalEEGPattern 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. https://www.medicine.mcgill.ca/physio/vlab/biomed_signals/eeg_n.htm object distortion true object spatial inclination true https://www.ncbi.nlm.nih.gov/pubmed/12684556 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. 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 intermittent rhythmic delta activity http://www.case.edu/EpSO.owl#OccipitalIntermittentRythmicDeltaActivity true true 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. https://bioportal.bioontology.org/ontologies/ESSO/?p=classes&conceptid=http%3A%2F%2Fwww.semanticweb.org%2Frjyy%2Fontologies%2F2015%2F5%2FESSO%23Occipital_Intermittent_Rhythmic_Delta_Activity_OIRDA&jump_to_nav=true 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 http://www.journalagent.com/epilepsi/pdfs/JTES-27146-CASE_REPORT-CABALAR.pdf 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 epilepsy http://www.case.edu/EpSO.owl#LateralFrontalEpilepsy true 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. https://www.ncbi.nlm.nih.gov/pubmed/15489401 https://www.ncbi.nlm.nih.gov/pubmed/15489401 https://www.ncbi.nlm.nih.gov/pubmed/23027097 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 lobe seizure https://www.epilepsy.com/learn/professionals/about-epilepsy-seizures/symptomatic-and-probably-symptomatic-focal-epilepsies-1 true 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. https://www.epilepsydiagnosis.org/seizure/occipital-overview.html https://www.ncbi.nlm.nih.gov/pubmed/9128446 occipital pole epilepsy http://www.case.edu/EpSO.owl#OccipitalPoleEpilepsy true https://www.ncbi.nlm.nih.gov/pubmed/835966 occular oscillation true https://www.ncbi.nlm.nih.gov/pubmed/2909707 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. oligoantigenic diet true 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. https://www.ndhealthfacts.org/wiki/Oligoantigenic_Diet 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. Hypermotor Seizure orbito frontal epilepsy http://www.case.edu/EpSO.owl#HypermotorSeizure http://www.case.edu/EpSO.owl#OrbitoFrontalEpilepsy 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. https://www.ncbi.nlm.nih.gov/pubmed/23027095 Impaired awareness, initial repetitive automatisms, olfactory hallucinations and illusions and autonomic features may be seen. orbitofrontal cortex seizure true Impaired awareness, initial repetitive automatisms, olfactory hallucinations and illusions and autonomic features may be seen. https://www.epilepsydiagnosis.org/seizure/frontal-lobe-overview.html https://www.ncbi.nlm.nih.gov/pubmed/24881594 In vitro models generated to study the toxic effects of various types of organophosphate (OP) neurotoxicants on cell and tissue culture. organophosphates model Modified definition true https://www.ncbi.nlm.nih.gov/pubmed/23384238 Organotypic brain slice cultures (BSCs) represent a physiologically relevant three-dimensional model of the brain. organotypic slice cultures true Organotypic brain slice cultures (BSCs) represent a physiologically relevant three-dimensional model of the brain. https://molecularneurodegeneration.biomedcentral.com/articles/10.1186/s13024-019-0346-0 https://www.ncbi.nlm.nih.gov/pubmed/24592228 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. out of body experience true true 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. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#oob-experiences 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. palinopsia http://www.case.edu/EpSO.owl#Palinopsia 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. https://www.ncbi.nlm.nih.gov/pubmed/22714609 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. paracentral lobule seizure true 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. https://www.epilepsydiagnosis.org/seizure/parietal-overview.html https://www.ncbi.nlm.nih.gov/pubmed/19453720 parahippocampal epilepsy http://www.case.edu/EpSO.owl#ParaHippocampalEpilepsy true https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5321155/ parasitic cyst http://www.case.edu/EpSO.owl#ParasiticCysts true 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 epilepsy http://www.case.edu/EpSO.owl#ParietalLobeEpilepsy true 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. https://www.uwhealth.org/epilepsy-seizures/parietal-lobe-epilepsy/40341 Seizures with onset in the parietal lobe. parietal lobe seizure true Seizures with onset in the parietal lobe. https://www.epilepsydiagnosis.org/seizure/parietal-overview.html 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 junction seizure true 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. https://www.epilepsydiagnosis.org/seizure/occipital-overview.html https://www.ncbi.nlm.nih.gov/pubmed/30909077 Seizures with a parietal and/or occipital onset. parieto occipital epilepsy http://www.case.edu/EpSO.owl#ParietoOccipitalEpilepsy Modified definition https://www.ncbi.nlm.nih.gov/pubmed/2779593 Animal models characterized by abnormal co-contractions of antagonistic muscle groups that produce twisting movements and abnormal postures. paroxysmal dystonia model true Animal models characterized by abnormal co-contractions of antagonistic muscle groups that produce twisting movements and abnormal postures. https://www.ncbi.nlm.nih.gov/pubmed/16389314 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 exercise induced dyskinesia true 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. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#paro-exercise 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 kinesigenic dyskinesia true 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. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#paro-kin 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. paroxysmal nonkinesigenic dyskinesia true 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. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#paro-nonkin Amnesia affecting only certain memories. partial amnesia https://www.verywellhealth.com/amnesia-and-memory-loss-2161855 Modified definition true Pedaling movements of both feet. pedaling true Pedaling movements of both feet. https://www.ncbi.nlm.nih.gov/pubmed/1760211 https://www.ncbi.nlm.nih.gov/pubmed/29151098 A vision perception disorder in which objects appear closer than they actually are. pelopsia http://www.case.edu/EpSO.owl#Pelopsia true A vision perception disorder in which objects appear closer than they actually are. https://www.yourdictionary.com/pelopsia https://www.ncbi.nlm.nih.gov/pubmed/18762233 https://www.ncbi.nlm.nih.gov/pubmed/21939841 Penicillin-induced epilepsy model is an animal model in which penicillin used to induce epilepsy seizure on hippocampal neuron number and hippocampal volume. penicillin-induced epilepsy model penicillin model Modified definition true https://www.ncbi.nlm.nih.gov/pubmed/20868357 https://www.ncbi.nlm.nih.gov/pubmed/25228809 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. pentylenetetrazol model true 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. https://www.meliordiscovery.com/in-vivo-efficacy-models/pentylenetetrazole-induced-seizure-ptz/ https://www.ncbi.nlm.nih.gov/pubmed/29804730 https://www.ncbi.nlm.nih.gov/pubmed/8330586 Perinatal insults are defined as insults which likely occurred between 28 weeks of gestation to 28 days after birth. perinatal insult Modified definition true Periodic pattern (PP) refers to relative stereotypical waveforms which are frequently epileptiform and have a relatively periodic repetition rate. periodic pattern http://www.case.edu/EpSO.owl#PeriodicPattern Periodic pattern (PP) refers to relative stereotypical waveforms which are frequently epileptiform and have a relatively periodic repetition rate. https://bioportal.bioontology.org/ontologies/EPSO/?p=classes&conceptid=http%3A%2F%2Fwww.case.edu%2FEpSO.owl%23PeriodicPattern&jump_to_nav=true https://www.ncbi.nlm.nih.gov/pubmed/19333408 Person hallucination is a form of visual hallucinations ranging from seeing a person in the absence of an external stimulus. person hallucination Modified definition true https://www.ncbi.nlm.nih.gov/pubmed/20618423 https://www.ncbi.nlm.nih.gov/pubmed/24251565 In vitro or in vivo models developed in research of pharmacoresistant epilepsy. pharmacoresistant epilepsy model true https://www.ncbi.nlm.nih.gov/pubmed/2924747 Seizures induced when toxic concentrations of phenytoin an anti-epileptic drug is administered. phenytion-induced seizure Modified definition true https://www.ncbi.nlm.nih.gov/pubmed/11956004 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. picrotoxin-induced seizure Modified definition true https://www.ncbi.nlm.nih.gov/pubmed/11762207 https://www.ncbi.nlm.nih.gov/pubmed/11956004 https://www.ncbi.nlm.nih.gov/pubmed/1396544 Animal models in which administration of picrotoxin, the GABAA receptor antagonist into the medial PFC has been shown to reduce prepulse inhibition. picrotoxin model Modified definition true https://www.ncbi.nlm.nih.gov/pubmed/18550176 Animal models in which injection of pilocarpine inducing status epilepticus that is characterized by tonic–clonic generalized seizures. pilocarpine model true Distinct EEG activity composed of multiple frequencies that combine to form a complex waveform. polymorphic wave true Distinct EEG activity composed of multiple frequencies that combine to form a complex waveform. https://www.medicine.mcgill.ca/physio/vlab/biomed_signals/eeg_n.htm 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 occipital sharp transients of sleep https://emedicine.medscape.com/article/1139332-overview#a1 true 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. https://bioportal.bioontology.org/ontologies/ESSO/?p=classes&conceptid=http%3A%2F%2Fwww.semanticweb.org%2Frjyy%2Fontologies%2F2015%2F5%2FESSO%23Positive_Occipital_Sharp_Transient_of_Sleep_POST&jump_to_nav=true https://www.ncbi.nlm.nih.gov/pubmed/12908748 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. positive visual hallucination Modified definition postictal 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-ictal true 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. https://www.ncbi.nlm.nih.gov/pubmed/30252260 https://www.ncbi.nlm.nih.gov/pubmed/16954451 Seizure after stroke. post stroke seizure true Seizure after stroke. https://svn.bmj.com/content/4/1/48 https://www.ncbi.nlm.nih.gov/pubmed/23926279 Posterior cingulate epilepsy (PCE) is rare form of epilepsy where the seizure onset is located at an anatomically deep and semiologically silent area. http://www.case.edu/EpSO.owl#PosteriorCingulateEpilepsy posterior cingulate epilepsy http://www.case.edu/EpSO.owl#PosteriorCingulateEpilepsy Modified definition true https://www.ncbi.nlm.nih.gov/pubmed/8154869 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. Basal Temporal Epilepsy posterior temporal epilepsy http://www.case.edu/EpSO.owl#BasalTemporalEpilepsy http://www.case.edu/EpSO.owl#PosteriorTemporalEpilepsy Modified definition true https://www.ncbi.nlm.nih.gov/pubmed/25228809 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. posttraumatic epilepsy model true 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. https://www.ncbi.nlm.nih.gov/pubmed/17260063 Prefrontal epilepsy was considered as one variation of frontal-lobar epilepsy with prefrontal location of the focus. prefrontal epilepsy http://www.case.edu/EpSO.owl#PrefrontalEpilepsy Prefrontal epilepsy was considered as one variation of frontal-lobar epilepsy with prefrontal location of the focus. https://www.ncbi.nlm.nih.gov/pubmed/9511207 https://www.ncbi.nlm.nih.gov/pubmed/23027094 Seizures originating from the premotor cortex. premotor epilepsy http://www.case.edu/EpSO.owl#PremotorEpilepsy Modified definition true https://www.ncbi.nlm.nih.gov/pubmed/10908200 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 sensorimotor cortex seizure true true 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. https://www.epilepsydiagnosis.org/seizure/frontal-lobe-overview.html 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. primary visual cortex seizure true 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. https://www.epilepsydiagnosis.org/seizure/occipital-overview.html 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. primitive behavior https://link.springer.com/chapter/10.1385/1-59259-872-2:189 Modified definition true 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. pseudostatus epilepticus true 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. https://www.ncbi.nlm.nih.gov/books/NBK2609/ https://www.ncbi.nlm.nih.gov/pubmed/10924866 The QOLIE-31 is a 31- item self-administered questionnaire for adults (18 years or older) with epilepsy. QUOLIE-31 quality of life in epilepsy inventory - 31 https://www.epilepsy.com/sites/core/files/atoms/files/QOLIE-31%20for%20web-USA.pdf Modified definition true https://www.ncbi.nlm.nih.gov/pubmed/12639061 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. quality of life in epilepsy inventory - 89 true 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. https://www.rand.org/health-care/surveys_tools/qolie.html Muscle atonia during REM sleep. http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#REM_Atonia REM atonia rapid eye movement atonia Muscle atonia during REM sleep. https://www.ncbi.nlm.nih.gov/pubmed/24127148 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. Primary Reading Epilepsy reading epilepsy http://www.case.edu/EpSO.owl#PrimaryReadingEpilepsy true 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. https://www.epilepsydiagnosis.org/syndrome/reflex-epilepsies-overview.html https://www.ncbi.nlm.nih.gov/pubmed/30215021 Responsive neurostimulation (RNS) is a breakthrough surgical approach to treating seizures that are not controlled by medication. responsive neurostimulation true Responsive neurostimulation (RNS) is a breakthrough surgical approach to treating seizures that are not controlled by medication. https://www.neurosurgery.pitt.edu/centers/epilepsy/responsive-neurostimulation https://www.ncbi.nlm.nih.gov/books/NBK390352/ Rhythmic benign variants consist of rhythmic activity that may be in the theta, alpha, or beta frequency ranges. rhythmic benign variant http://www.case.edu/EpSO.owl#RhythmicBenignVariant true Rhythmic benign variants consist of rhythmic activity that may be in the theta, alpha, or beta frequency ranges. https://bioportal.bioontology.org/ontologies/EPSO/?p=classes&conceptid=http%3A%2F%2Fwww.case.edu%2FEpSO.owl%23RhythmicBenignVariant&jump_to_nav=true https://www.ncbi.nlm.nih.gov/books/NBK390352/ 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. Rhytmic Temporal Theta Bursts of Drowsiness rhythmic temporal theta of drowsiness http://www.case.edu/EpSO.owl#RhytmicTemporalThetaBurstsofDrowsiness true 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. https://bioportal.bioontology.org/ontologies/EPSO/?p=classes&conceptid=http%3A%2F%2Fwww.case.edu%2FEpSO.owl%23RhytmicTemporalThetaBurstsofDrowsiness Encephalomalacia in the right frontal lobe. right frontal encephalomalacia http://www.case.edu/EpSO.owl#RightFrontalEncephalomalacia Encephalomalacia in the right frontal lobe. https://www.ncbi.nlm.nih.gov/pubmed/22134284 right fronto parietal abscess http://www.case.edu/EpSO.owl#RightFrontoParietalAbcess right fronto temporal glioma http://www.case.edu/EpSO.owl#RightFrontoTemporalGlioma A right hemispheric stroke happens when blood cannot flow to the right hemisphere (half) of your brain. right hemispheric stroke http://www.case.edu/EpSO.owl#RightHemisphericStroke https://mrri.org/right-hemisphere-stroke-center/ A right hemispheric stroke happens when blood cannot flow to the right hemisphere (half) of your brain. https://www.drugs.com/cg/right-hemispheric-stroke.html Lesions in Mesial temporal lobe. Mesial temporal lobe lesion right mesial lesion http://www.case.edu/EpSO.owl#RightMesialLesion Lesions in Mesial temporal lobe. https://www.ncbi.nlm.nih.gov/pubmed/29916782 Rotational horizontal vertigo is defined when the nystagmus is purely horizontal and rotational. rotational horizontal https://www.aafp.org/afp/2006/0115/p244.html Modified definition true Rotational vertical vertigo is defined when the nystagmus is purely vertical and rotational. rotational vertical https://www.aafp.org/afp/2006/0115/p244.html true Prolonged or repetitive cutaneous stimulation in a circumscribed area of the body. rubbing true true Prolonged or repetitive cutaneous stimulation in a circumscribed area of the body. https://www.ncbi.nlm.nih.gov/pubmed/11254785 rushing noise true https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3195159/ scenery hallucination true true https://www.ncbi.nlm.nih.gov/pubmed/12427900 To make an unpleasant, loud, high noise. screeching true To make an unpleasant, loud, high noise. https://dictionary.cambridge.org/dictionary/english/screech second line immunotherapy https://www.j-epilepsy.org/journal/view.php?number=151 true https://www.ncbi.nlm.nih.gov/pubmed/26063964 Occipital seizures arising in this area tend to spread to the temporal lobe producing a focal impaired awareness seizure. inferior to the calcarine fissure seizure arising inferior to the calcarine fissure true Occipital seizures arising in this area tend to spread to the temporal lobe producing a focal impaired awareness seizure. https://www.epilepsydiagnosis.org/seizure/occipital-overview.html https://www.ncbi.nlm.nih.gov/pubmed/26063964 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 arising superior to the calcarine fissure true 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. https://www.epilepsydiagnosis.org/seizure/occipital-overview.html https://www.ncbi.nlm.nih.gov/pubmed/10474720 Seizures occuring during the course of HIV infection. Seizure associated with HIV infection seizure associated with human immunodeficiency virus infection Modified definition true https://www.ncbi.nlm.nih.gov/pubmed/23959883 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 hemispheric lateralization true 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 https://www.epilepsydiagnosis.org/seizure/hemispheric-localization-overview.html 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 based on lobar localization https://www.epilepsydiagnosis.org/seizure/focal-seizure-overview.html# true true 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. https://www.sciencedirect.com/topics/medicine-and-dentistry/localization-related-epilepsy 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 classification true 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. https://www.epilepsydiagnosis.org/seizure/seizure-classification-groupoverview.html Seizures induced by chlorinated hydrocarbon. seizure induced by chlorinated hydrocarbon true Seizures induced by chlorinated hydrocarbon. https://www.ncbi.nlm.nih.gov/pubmed/4104375 seizure not necessarily requiring a diagnosis of epilepsy true https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375749/ https://www.ncbi.nlm.nih.gov/pubmed/25012363 EEG patterns encountered during seizures. seizure pattern http://www.case.edu/EpSO.owl#SeizurePattern Modified definition true https://www.ncbi.nlm.nih.gov/pubmed/22957229 Selective amygdalohippocampectomy is a surgical procedure employed in cases of medically refractory temporal lobe epilepsy of mesial temporal origin. selective amygdalohippocampectomy Modified definition true 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 familial and non-familial infantile epilepsy true 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. https://www.epilepsydiagnosis.org/syndrome/benign-fam-nonfam-infantile-overview.html 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-limited neonatal seizure and self-limited familial neonatal epilepsy true 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. https://www.epilepsydiagnosis.org/syndrome/self-limited-neonatal-overview.html 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. Benign idiopathic infantile dyskinesia Gratification disorder Self Stimulation self gratification true 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. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#infant-gratification self limited seizure true Phenomenon of orgasm being a trigger for reflex seizures. sexual seizure http://www.case.edu/EpSO.owl#SexualSeizure https://www.psychologytoday.com/us/blog/sex-in-the-brain/202001/what-happens-during-sexual-seizure true true Phenomenon of orgasm being a trigger for reflex seizures. https://www.ncbi.nlm.nih.gov/pubmed/27057393 A sequence of a sharp wave and a slow wave. sharp and slow wave complex true A sequence of a sharp wave and a slow wave. https://bioportal.bioontology.org/ontologies/ESSO/?p=classes&conceptid=http%3A%2F%2Fwww.semanticweb.org%2Frjyy%2Fontologies%2F2015%2F5%2FESSO%23Sharp_and_Slow_Wave_Complex&jump_to_nav=true 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. sharp wave http://www.case.edu/EpSO.owl#SharpWave true 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. https://bioportal.bioontology.org/ontologies/EPSO/?p=classes&conceptid=http%3A%2F%2Fwww.case.edu%2FEpSO.owl%23SharpWave&jump_to_nav=true sialorrheic seizure http://www.case.edu/EpSO.owl#SialorrheicSeizure 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. Single Focal Epilepsy simple focal seizure http://www.case.edu/EpSO.owl#SingleFocalEpilepsy true 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. https://stanfordhealthcare.org/medical-conditions/brain-and-nerves/epilepsy/types/focal-partial-seizures.html https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2660156/ 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 hallucination http://www.case.edu/EpSO.owl#SimpleVisualHallucination true 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. http://www.ajnr.org/content/37/5/774 simple visual pattern https://www.mayoclinicproceedings.org/article/S0025-6196(11)63178-9/fulltext true true single seizure or isolated clusters of seizure true Waves resembling sine waves. sinusoidal wave https://www.medicine.mcgill.ca/physio/vlab/biomed_signals/eeg_n.htm true Waves resembling sine waves. https://bioportal.bioontology.org/ontologies/ESSO/?p=classes&conceptid=http%3A%2F%2Fwww.semanticweb.org%2Frjyy%2Fontologies%2F2015%2F5%2FESSO%23Sinusoidal_Wave&jump_to_nav=true situational cicardian rhythm sleep disorder http://www.case.edu/EpSO.owl#SituationalCicardianRhythmSleepDisorder 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 deprived EEG sleep deprived electroencephalography true 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. https://www.verywellhealth.com/sleep-deprived-eeg-for-seizures-4628312 A sleep EEG is a type of EEG carried out while someone is asleep. sleep EEG sleep electroencephalography https://www.nhs.uk/conditions/electroencephalogram/ Modified definition Sleep-onset rapid eye movement (SOR) refers to the occurence of REM sleep less than 15 minutes after falling sleep. sleep onset rapid eye movement http://www.case.edu/EpSO.owl#SleepOnsetRapidEyeMovement Sleep-onset rapid eye movement (SOR) refers to the occurence of REM sleep less than 15 minutes after falling sleep. https://bioportal.bioontology.org/ontologies/EPSO/?p=classes&conceptid=http%3A%2F%2Fwww.case.edu%2FEpSO.owl%23SleepOnsetRapidEyeMovement&jump_to_nav=true 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. sleep spindle https://emedicine.medscape.com/article/1139332-overview#a1 true 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. https://bioportal.bioontology.org/ontologies/ESSO/?p=classes&conceptid=http%3A%2F%2Fwww.semanticweb.org%2Frjyy%2Fontologies%2F2015%2F5%2FESSO%23Sleep_Spindle&jump_to_nav=true https://www.ncbi.nlm.nih.gov/books/NBK390352/ 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. Benign Epileptiform Transients of Sleep SSS small sharp spike http://www.case.edu/EpSO.owl#SmallShartSpike https://emedicine.medscape.com/article/1140563-overview#a1 true 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. https://bioportal.bioontology.org/ontologies/EPSO/?p=classes&conceptid=http%3A%2F%2Fwww.case.edu%2FEpSO.owl%23SmallShartSpike&jump_to_nav=true https://www.ncbi.nlm.nih.gov/pubmed/24861272 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). SDQ-20 somatoform dissociation questionnaire true 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). https://onlinelibrary.wiley.com/doi/pdf/10.1002/9781118093146.app2 spark https://www.scientificamerican.com/article/brains-gilal-cells-spark-seizures/ true true https://www.ncbi.nlm.nih.gov/pubmed/26365965 EEG patterns other than normal ones. special pattern http://www.case.edu/EpSO.owl#SpecialPattern Modified definition special seizure http://www.case.edu/EpSO.owl#SpecialSeizure https://www.ncbi.nlm.nih.gov/books/NBK2605/ https://www.ncbi.nlm.nih.gov/pubmed/6537832 speech arrest true true true speech interrupted https://www.epilepsy.com/article/2014/3/types-language-problems-epilepsy true true A pattern consisting of a spike followed by a slow wave. spike and slow wave complex true A pattern consisting of a spike followed by a slow wave. https://bioportal.bioontology.org/ontologies/ESSO/?p=classes&conceptid=http%3A%2F%2Fwww.semanticweb.org%2Frjyy%2Fontologies%2F2015%2F5%2FESSO%23Spike-and-Slow-Wave_Complex&jump_to_nav=true Spindle stupor (SS) refers to an EEG recording of coma where the record is like that of a typical stage-II sleep pattern. spindle stupor http://www.case.edu/EpSO.owl#SpindleStupor Spindle stupor (SS) refers to an EEG recording of coma where the record is like that of a typical stage-II sleep pattern. https://bioportal.bioontology.org/ontologies/EPSO/?p=classes&conceptid=http%3A%2F%2Fwww.case.edu%2FEpSO.owl%23SpindleStupor&jump_to_nav=true status pattern http://www.case.edu/EpSO.owl#StatusPattern https://www.ncbi.nlm.nih.gov/pubmed/32144451 status semiology http://www.case.edu/EpSO.owl#StatusSemiology true https://www.ncbi.nlm.nih.gov/pubmed/29755904 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. Stereotactic Radiation Therapy stereotactic radiotherapy true 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. https://www.rtanswers.org/How-does-radiation-therapy-work/Stereotactic-Radiation-Therapy 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 equation model true 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. https://www.ncbi.nlm.nih.gov/pubmed/22995680 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. Structural Cause structural etiology http://www.case.edu/EpSO.owl#StructuralCause true 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. https://www.epilepsydiagnosis.org/aetiology/structural-groupoverview.html https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4164293/ A seizure model in which administration of strychine induces generalized tonic-clonic seizures. strychnine model Modified definition https://www.ncbi.nlm.nih.gov/books/NBK2511/ 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. Suck sucking true true 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. https://dictionary.cambridge.org/dictionary/english/suck 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. supplementary motor area seizure http://www.case.edu/EpSO.owl#SupplementaryMotorAreaEpilepsy Modified definition true 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. symptomatic focal epilepsy symptomatic epilepsy true 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. https://emedicine.medscape.com/article/1851206-overview 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. sz mutant hamster true 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. https://www.ncbi.nlm.nih.gov/pubmed/2779593 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. Tantrums rage tantrum and rage reaction true 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. https://www.epilepsydiagnosis.org/epilepsy-imitators.html#tantrums https://www.ncbi.nlm.nih.gov/pubmed/29763181 To hit something gently, and often repeatedly, especially making short, sharp noises. Tap tapping true true To hit something gently, and often repeatedly, especially making short, sharp noises. https://dictionary.cambridge.org/dictionary/english/tap https://www.ncbi.nlm.nih.gov/pubmed/2804800 Occurrs more characteristically as trains of 50-100 µV sinusoidal or saw-toothed 1-4Hz activity, recorded predominantly from anterior temporal regions. 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 TIRDA temporal intermittent rythmic delta activity http://www.case.edu/EpSO.owl#TemporalIntermittentRythmicDeltaActivity Modified 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 https://www.sciencedirect.com/science/article/pii/S1388245718313701 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. temporal lobe seizure true 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. https://www.epilepsydiagnosis.org/seizure/temporal-overview.html https://www.ncbi.nlm.nih.gov/pubmed/21704564 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-parieto-occipital junction true 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. https://www.ncbi.nlm.nih.gov/pubmed/24975421 https://www.ncbi.nlm.nih.gov/pubmed/12615636 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’ temporo occipital epilepsy http://www.case.edu/EpSO.owl#TemporoOccipitalEpilepsy Modified definition https://www.ncbi.nlm.nih.gov/pubmed/15632275 Epilepsy characterized by seizures arising from temporo-parietal junction temporo parietal epilepsy http://www.case.edu/EpSO.owl#TemporoParietalEpilepsy Modified definition https://www.ncbi.nlm.nih.gov/pubmed/21939841 The model involves the stereotactic injection of a minute dose of the toxin (secreted by the bacterium Clostridium tetani) into the brain. tetanus toxin model true Theta activity refers to activity with a frequency range of 4 to 8 Hz. theta activity http://www.case.edu/EpSO.owl#ThetaActivity https://emedicine.medscape.com/article/1139332-overview#a1 Theta activity refers to activity with a frequency range of 4 to 8 Hz. https://bioportal.bioontology.org/ontologies/EPSO/?p=classes&conceptid=http%3A%2F%2Fwww.case.edu%2FEpSO.owl%23ThetaActivity&jump_to_nav=true Theta stuport (TS) / Theta Coma (TC) refers to predominance of theta waves in a comatose/stuporous patient. theta stupor theta coma http://www.case.edu/EpSO.owl#ThetaComa Theta stuport (TS) / Theta Coma (TC) refers to predominance of theta waves in a comatose/stuporous patient. https://bioportal.bioontology.org/ontologies/EPSO/?p=classes&conceptid=http%3A%2F%2Fwww.case.edu%2FEpSO.owl%23ThetaComa&jump_to_nav=true https://www.ncbi.nlm.nih.gov/pubmed/26002462 The tottering mouse is the best characterized of the Cacna1a mutation, encodes a P601L missense mutation. Tottering mice tottering mouse modified definition true Toxins cause seizures by altering the balance of excitation and inhibition in the nervous system or interfering with energy metabolism. toxic cause of seizure true Toxins cause seizures by altering the balance of excitation and inhibition in the nervous system or interfering with energy metabolism. https://www.sciencedirect.com/science/article/pii/S1096286798800376 An isolated wave or pattern that is distinctly different from background activity. transient https://www.medicine.mcgill.ca/physio/vlab/biomed_signals/eeg_n.htm true An isolated wave or pattern that is distinctly different from background activity. https://bioportal.bioontology.org/ontologies/ESSO/?p=classes&conceptid=http%3A%2F%2Fwww.semanticweb.org%2Frjyy%2Fontologies%2F2015%2F5%2FESSO%23Transient&jump_to_nav=true https://www.ncbi.nlm.nih.gov/pubmed/26307329 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. trigeminal nerve stimulation modified definition true 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. Trigger factor for seizure trigger factor for seizure https://www.epilepsy.com/learn/about-epilepsy-basics/what-are-risk-factors true 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. https://www.epilepsysociety.org.uk/seizure-triggers#.XI9qNygzbIU Triphasic waves (TW) refer to high amplitude (>70 µV) positive sharp transients which are preceded and followed by relatively low-amplitude negative waves. triphasic wave http://www.case.edu/EpSO.owl#TriphasicWave true Triphasic waves (TW) refer to high amplitude (>70 µV) positive sharp transients which are preceded and followed by relatively low-amplitude negative waves. https://bioportal.bioontology.org/ontologies/EPSO/?p=classes&conceptid=http%3A%2F%2Fwww.case.edu%2FEpSO.owl%23TriphasicWave&jump_to_nav=true twisting true 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. unclassified seizure onset true 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. https://www.epilepsydiagnosis.org/seizure/unknown-onset-groupoverview.html 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 epilepsy true 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. https://www.epilepsydiagnosis.org/epilepsy/unknown-epilepsy-groupoverview.html '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 etiology true '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. https://www.epilepsydiagnosis.org/aetiology/unknown-groupoverview.html 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. unknown onset seizure true 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. https://www.epilepsydiagnosis.org/seizure/unknown-onset-groupoverview.html Not worthy; lacking worth or excellence. unworthiness http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2011000600009 true true Not worthy; lacking worth or excellence. https://www.dictionary.com/browse/unworthiness 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. uremic encephalopathy https://emedicine.medscape.com/article/239191-overview https://www.epilepsy.com/learn/professionals/co-existing-disorders/renal-disorders/uremic-encephalopathy true true 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. https://www.ncbi.nlm.nih.gov/pubmed/27127003 https://www.ncbi.nlm.nih.gov/pubmed/26167207 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. urine organic acid test true 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. https://www.sciencedirect.com/topics/veterinary-science-and-veterinary-medicine/urine-organic-acids 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 vasomotor seizure http://www.case.edu/EpSO.owl#VasomotorSeizure 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 https://jnnp.bmj.com/content/jnnp/12/1/25.full.pdf https://www.ncbi.nlm.nih.gov/pubmed/?term=%27vertical+occular+oscillation%27+epilepsy vertical occular oscillation true true https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5308014/ 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. vertigo aura modified definition true 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. video telemetry https://www.epilepsysociety.org.uk/eeg-electroencephalogram#.XFE6tFwzbIU true 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. https://www.nhs.uk/conditions/electroencephalogram/ 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 voltage-gated potassium channel antibody true 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 https://www.epilepsydiagnosis.org/aetiology/antibody-mediated-overview.html#voltage-gated https://www.ncbi.nlm.nih.gov/books/NBK390352/ 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. wicket spike wicket wave http://www.case.edu/EpSO.owl#WicketSpike https://emedicine.medscape.com/article/1140563-overview#a1 true 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. https://bioportal.bioontology.org/ontologies/EPSO/?p=classes&conceptid=http%3A%2F%2Fwww.case.edu%2FEpSO.owl%23WicketSpike&jump_to_nav=true Worthiness is a quality of being suitable or having some kind of value. worthiness http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2011000600009 true true Worthiness is a quality of being suitable or having some kind of value. https://www.vocabulary.com/dictionary/worthiness 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 zinc model true 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 https://www.ncbi.nlm.nih.gov/pubmed/20868357 https://www.ncbi.nlm.nih.gov/pubmed/23002376 https://www.ncbi.nlm.nih.gov/pubmed/28324301 MRI scanners built around 1.5 Tesla (T) magnet. 1.5 Tesla (1.5 T) MRI Magnetic Resonance Imaging (1.5 Tesla) 1.5 Tesla magnetic resonance imaging https://jamanetwork.com/journals/jamaneurology/article-abstract/585216 Modified definition true true https://www.ncbi.nlm.nih.gov/books/NBK390352/ 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. Fourteen-SixHertzPositiveBurst 14Hz and 6Hz positive spike http://www.case.edu/EpSO.owl#Fourteen-SixHertzPositiveBurst https://emedicine.medscape.com/article/1140563-overview#a1 true 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. https://bioportal.bioontology.org/ontologies/EPSO/?p=classes&conceptid=http%3A%2F%2Fwww.case.edu%2FEpSO.owl%23Fourteen-SixHertzPositiveBurst&jump_to_nav=true https://www.ncbi.nlm.nih.gov/pubmed/15572277 3-nitropropionic acid evoked seizures. 3-nitropropionic acid-induced seizure true https://www.ncbi.nlm.nih.gov/pubmed/20955719 Epilepsy in-vitro model induced by 4-aminopyridine. 4-aminopyridine-induced seizure Modified definition true https://www.ncbi.nlm.nih.gov/pubmed/24013377 In vivo and in vitro models to evoke epileptiform activity by applying or injecting 4-Aminopyridine in low concentrations. 4-aminopyridine slice model Modified definition true https://www.ncbi.nlm.nih.gov/books/NBK390352/ 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. Phantom spike and wave 6Hz phantom spike and wave http://www.case.edu/EpSO.owl#Six-HertzSpikeWaveBurst https://emedicine.medscape.com/article/1140563-overview#a1 true 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. https://bioportal.bioontology.org/ontologies/EPSO/?p=classes&conceptid=http%3A%2F%2Fwww.case.edu%2FEpSO.owl%23Six-HertzSpikeWaveBurst&jump_to_nav=true https://www.ncbi.nlm.nih.gov/pubmed/20951004 The 6 Hz Seizure Model is categorized as a partial or focal form of seizure (Psychomotor Seizure). 6 Hertz psychomotor true The 6 Hz Seizure Model is categorized as a partial or focal form of seizure (Psychomotor Seizure). https://www.meliordiscovery.com/in-vivo-efficacy-models/6-hz-psychomotor-seizure-model-melior-discovery/ https://www.ncbi.nlm.nih.gov/pubmed/24861272 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. ASQ age and sex questionnaire 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. https://agesandstages.com/products-pricing/asq3/ https://www.ncbi.nlm.nih.gov/pubmed/2395534 C57BL/10Bg mice display behavioral arrest characterized by periods of marked inactivity, similar to generalized absence seizures. C57BL/10Bg mice C57BL/10Bg sps/sps mouse true C57BL/10Bg mice display behavioral arrest characterized by periods of marked inactivity, similar to generalized absence seizures. https://www.sciencedirect.com/science/article/abs/pii/030439409090077M https://www.ncbi.nlm.nih.gov/pubmed/31961886 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. WHO-QOL BREF World Health Organization quality of life instrument, short form true 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. https://www.ncbi.nlm.nih.gov/pubmed/22952508 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. familial (autosomal dominant) focal epilepsy true 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. https://www.ncbi.nlm.nih.gov/books/NBK2595/ Seizures with these features typically arise in the mesial temporal lobe. focal autonomic seizure with epigastric sensation or with nausea / vomiting true Seizures with these features typically arise in the mesial temporal lobe. https://www.epilepsydiagnosis.org/seizure/autonomic-overview.html focal autonomic seizure with hypoventilation/hyperventilation/altered respiration https://www.epilepsydiagnosis.org/seizure/autonomic-overview.html true https://www.ncbi.nlm.nih.gov/pubmed/15562299 Seizures with cutaneous manifestations such as flushing (markedly red in the face) or pallor (pale color of the skin). focal autonomic seizure with pallor/flushing http://epilepsyontario.org/about-epilepsy/types-of-seizures/simple-partial-seizures/ https://www.epilepsydiagnosis.org/seizure/autonomic-overview.html Modified definition true true https://www.ncbi.nlm.nih.gov/pubmed/23862049 https://www.ncbi.nlm.nih.gov/pubmed/25988019 https://www.ncbi.nlm.nih.gov/pubmed/26038597 Seizures with cardiac arrhythmias such as change in heart rate variability, ictal tachycardias, ictal bradycardia, atrioventricular (AV) block and asystole. focal autonomic seizure with palpitation/tachycardia /bradycardia/asystole https://www.epilepsydiagnosis.org/seizure/autonomic-overview.html Modified definition true true https://www.ncbi.nlm.nih.gov/pubmed/22050551 focal autonomic seizure with pupillary dilation/constriction http://epilepsyontario.org/about-epilepsy/types-of-seizures/simple-partial-seizures/ https://www.epilepsydiagnosis.org/seizure/autonomic-overview.html true true true https://www.ncbi.nlm.nih.gov/pubmed/10932282 https://www.ncbi.nlm.nih.gov/pubmed/16060951 https://www.ncbi.nlm.nih.gov/pubmed/29686574 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. focal autonomic seizure with urge to urinate/defecate https://www.epilepsydiagnosis.org/seizure/autonomic-overview.html Modified definition true true https://www.ncbi.nlm.nih.gov/books/NBK2605 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 conduction dysphasia/aphasia true true 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). https://www.epilepsydiagnosis.org/seizure/cognitive-overview.html https://www.ncbi.nlm.nih.gov/pubmed/22957231 Characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu). focal cognitive seizure with de javu / jamais vu true true true Characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu). https://www.epilepsydiagnosis.org/seizure/cognitive-overview.html https://www.ncbi.nlm.nih.gov/pubmed/21478188 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 dyscalculia/acalculia true true Characterized by difficulty completing or understanding mathematical calculation. This seizure type is seen in seizures involving the dominant hemisphere parieto-temporal lobe region. https://www.epilepsydiagnosis.org/seizure/cognitive-overview.html https://www.ncbi.nlm.nih.gov/pubmed/14667072 Characterized by difficulty in writing. This seizure type is seen in seizures involving the dominant hemisphere parieto-temporal lobe region. focal cognitive seizure with dysgraphia/agraphia true true Characterized by difficulty in writing. This seizure type is seen in seizures involving the dominant hemisphere parieto-temporal lobe region. https://www.epilepsydiagnosis.org/seizure/cognitive-overview.html 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 dyslexia/alexia true 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. https://www.epilepsydiagnosis.org/seizure/cognitive-overview.html https://www.ncbi.nlm.nih.gov/pubmed/16563807 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 expressive dysphasia/aphasia https://emedicine.medscape.com/article/1176568-clinical true true true 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). https://www.epilepsydiagnosis.org/seizure/cognitive-overview.html 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 cognitive seizure with receptive dysphasia/aphasia true 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. https://www.epilepsydiagnosis.org/seizure/cognitive-overview.html https://www.ncbi.nlm.nih.gov/pubmed/11039971 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 emotional seizure with fear/anxiety/panic https://www.epilepsy.com/learn/challenges-epilepsy/moods-and-behavior/mood-and-behavior-101/anxiety true true true 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. https://www.epilepsydiagnosis.org/seizure/emotional-overview.html https://www.ncbi.nlm.nih.gov/books/NBK2598 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 dysarthria / anarthria true true 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. https://www.epilepsydiagnosis.org/seizure/motor-overview.html The seizure onset is characterized by weakness or complete paralysis of a muscle or group of muscles. focal motor seizure with paresis/paralysis true true The seizure onset is characterized by weakness or complete paralysis of a muscle or group of muscles. https://www.epilepsydiagnosis.org/seizure/motor-overview.html https://www.ncbi.nlm.nih.gov/pubmed/15562304 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 lateral / neocortical temporal lobe seizure http://www.medlink.com/article/neocortical_temporal_lobe_seizures true true 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 https://www.epilepsydiagnosis.org/seizure/temporal-overview.html https://www.ncbi.nlm.nih.gov/pubmed/24967532 Animal models of seizures evoked by the beta-carboline DMCM (methyl-6,7-dimethoxy-4-ethyl-β-carboline-3-carboxylate). methyl-6,7-dimethoxy-4-ethyl-beta-carboline-3-carboxylate model Modified definition true 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). primary sensory area (post-central gyrus) seizure true 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). https://www.epilepsydiagnosis.org/seizure/occipital-overview.html https://www.ncbi.nlm.nih.gov/pubmed/27657542 A form of epilepsy in which the patient has only a few seizures Oligoepilepsy rarely repeated seizure (oligo-epilepsy) true true A form of epilepsy in which the patient has only a few seizures https://en.wiktionary.org/wiki/oligoepilepsy 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. secondary sensory area (parietal upper bank of the sylvian fissure) seizure true 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. https://www.epilepsydiagnosis.org/seizure/parietal-overview.html Brain connectivity TM_BIN 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. epilepsy classification TM_BIN 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. cognitive symptom https://livingwithschizophreniauk.org/cognitive-symptoms-schizophrenia/ Modified Defintion true 1 1 medicinal plant disposition https://www.ncbi.nlm.nih.gov/pubmed/25856437 The disposition of a plant or its parts to be used to cure disease or relieve pain. 2012-02-24T12:05:43Z idomal_namespace IDOMAL:6000062 true IDOMAL:6000062 louis lead site I