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